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GTR Home > Laboratories > PreventionGenetics, part of Exact Sciences

PreventionGenetics, part of Exact Sciences

GTR Lab ID: 239772, Last updated:2025-10-15

Personnel

Conditions and tests

  • 2-aminoadipic 2-oxoadipic aciduria1 test
  • 2-hydroxyglutaric aciduria4 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency4 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency4 tests
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency3 tests
  • 3-M syndrome2 tests
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency5 tests
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency5 tests
  • 3-methylglutaconic aciduria type 14 tests
  • 3-Methylglutaconic aciduria type 213 tests
  • 3-Methylglutaconic aciduria type 33 tests
  • 3-methylglutaconic aciduria type 53 tests
  • 3-methylglutaconic aciduria type 82 tests
  • 3-methylglutaconic aciduria type 91 test
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome4 tests
  • 3-methylglutaconic aciduria, type VIIA2 tests
  • 3-methylglutaconic aciduria, type VIIB4 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency5 tests
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 46,XX ovarian dysgenesis-short stature syndrome3 tests
  • 46,XX sex reversal 14 tests
  • 46,XX sex reversal 21 test
  • 46,XX sex reversal 42 tests
  • 46,xx sex reversal 52 tests
  • 46,XX testicular disorder of sex development1 test
  • 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency4 tests
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
  • 46,XY sex reversal 11 test
  • 46,XY sex reversal 101 test
  • 46,XY sex reversal 23 tests
  • 46,XY sex reversal 33 tests
  • 46,XY sex reversal 53 tests
  • 46,XY sex reversal 65 tests
  • 46,XY sex reversal 74 tests
  • 46,XY sex reversal 95 tests
  • 5-Oxoprolinase deficiency1 test
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
  • 8q24.3 microdeletion syndrome1 test
  • Aarskog syndrome1 test
  • ABCD syndrome2 tests
  • Abdominal obesity-metabolic syndrome 33 tests
  • Abetalipoproteinaemia1 test
  • Ablepharon macrostomia syndrome1 test
  • Abnormal activity of mitochondrial respiratory chain1 test
  • Abnormal bleeding1 test
  • Abnormal dental morphology1 test
  • Abnormality of connective tissue1 test
  • Abnormality of metabolism/homeostasis1 test
  • Abnormality of mitochondrial metabolism1 test
  • Abnormality of the immune system1 test
  • Abnormality of the skeletal system2 tests
  • Abnormality of the skin1 test
  • Abortive cerebellar ataxia5 tests
  • ABri amyloidosis3 tests
  • Abruzzo-Erickson syndrome1 test
  • Acatalasia1 test
  • Acheiropodia1 test
  • Achondrogenesis type II10 tests
  • Achondrogenesis, type IA2 tests
  • Achondrogenesis, type IB4 tests
  • Achondroplasia10 tests
  • Achromatopsia1 test
  • Achromatopsia 22 tests
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Acne inversa, familial, 11 test
  • Acne inversa, familial, 21 test
  • Acne inversa, familial, 32 tests
  • Acquired hemoglobin H disease2 tests
  • Acquired partial lipodystrophy1 test
  • Acquired polycythemia vera2 tests
  • Acral peeling skin syndrome2 tests
  • Acrocallosal syndrome4 tests
  • Acrocapitofemoral dysplasia1 test
  • Acrocephalosyndactyly type I8 tests
  • Acrodermatitis continua suppurativa of Hallopeau1 test
  • Acrodysostosis 1 with or without hormone resistance4 tests
  • Acrodysostosis 2 with or without hormone resistance4 tests
  • Acrofacial dysostosis Cincinnati type1 test
  • Acromelic frontonasal dysostosis1 test
  • Acromesomelic dysplasia 1, Maroteaux type3 tests
  • Acromesomelic dysplasia 2B2 tests
  • Acromesomelic dysplasia 2C, Hunter-Thompson type2 tests
  • Acromesomelic dysplasia 31 test
  • Acromicric dysplasia9 tests
  • Acroosteolysis-keloid-like lesions-premature aging syndrome3 tests
  • ACTB-associated syndromic thrombocytopenia3 tests
  • ACTH-independent macronodular adrenal hyperplasia 11 test
  • ACTH-independent macronodular adrenal hyperplasia 21 test
  • ACTH-independent macronodular adrenal hyperplasia 31 test
  • Actin accumulation myopathy2 tests
  • Action myoclonus-renal failure syndrome2 tests
  • Aculeiform cataract1 test
  • Acute encephalopathy1 test
  • Acute febrile neutrophilic dermatosis1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome2 tests
  • Acute intermittent porphyria3 tests
  • Acute lymphoid leukemia4 tests
  • Acute myeloid leukemia16 tests
  • Acyl-CoA dehydrogenase 9 deficiency7 tests
  • Acyl-CoA oxidase deficiency4 tests
  • Adams-Oliver syndrome2 tests
  • Adams-Oliver syndrome 15 tests
  • Adams-Oliver syndrome 25 tests
  • Adams-Oliver syndrome 33 tests
  • Adams-Oliver syndrome 44 tests
  • Adams-Oliver syndrome 56 tests
  • Adams-Oliver syndrome 64 tests
  • ADan amyloidosis3 tests
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenosine kinase deficiency3 tests
  • Adenylosuccinate lyase deficiency3 tests
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
  • ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY2 tests
  • Adrenocortical carcinoma, hereditary8 tests
  • Adrenoleukodystrophy7 tests
  • Adult hypophosphatasia5 tests
  • Adult neuronal ceroid lipofuscinosis1 test
  • Adult polyglucosan body disease3 tests
  • ADULT syndrome4 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy2 tests
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
  • Advanced sleep phase syndrome 21 test
  • Agammaglobulinemia2 tests
  • Agammaglobulinemia 10, autosomal dominant1 test
  • Agammaglobulinemia 2, autosomal recessive1 test
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 5, autosomal dominant1 test
  • Agammaglobulinemia 6, autosomal recessive2 tests
  • Agammaglobulinemia 7, autosomal recessive5 tests
  • Agammaglobulinemia 8, autosomal dominant1 test
  • Agammaglobulinemia 8b, autosomal recessive1 test
  • Agammaglobulinemia 9, autosomal recessive1 test
  • Aganglionic megacolon1 test
  • Age related macular degeneration 11 test
  • Age related macular degeneration 112 tests
  • Age related macular degeneration 131 test
  • Age related macular degeneration 141 test
  • Age related macular degeneration 151 test
  • Age related macular degeneration 43 tests
  • Age related macular degeneration 51 test
  • Age related macular degeneration 71 test
  • Age related macular degeneration 91 test
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome3 tests
  • Agenesis of the corpus callosum with peripheral neuropathy1 test
  • AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2 tests
  • Aicardi-Goutieres syndrome 14 tests
  • Aicardi-Goutieres syndrome 22 tests
  • Aicardi-Goutieres syndrome 32 tests
  • Aicardi-Goutieres syndrome 42 tests
  • Aicardi-Goutieres syndrome 52 tests
  • Aicardi-Goutieres syndrome 62 tests
  • Aicardi-Goutieres syndrome 74 tests
  • Aicardi-Goutieres syndrome 81 test
  • Aicardi-Goutieres syndrome 91 test
  • Al-Gazali syndrome1 test
  • Alacrima, achalasia, and intellectual disability syndrome1 test
  • Alagille syndrome due to a JAG1 point mutation12 tests
  • Alagille syndrome due to a NOTCH2 point mutation11 tests
  • Aland island eye disease2 tests
  • Alazami-Yuan syndrome1 test
  • ALDH18A1-related de Barsy syndrome2 tests
  • Aldosterone-producing adenoma with seizures and neurological abnormalities3 tests
  • Alexander disease3 tests
  • ALG1-congenital disorder of glycosylation2 tests
  • ALG11-congenital disorder of glycosylation1 test
  • ALG12-congenital disorder of glycosylation3 tests
  • ALG2-congenital disorder of glycosylation3 tests
  • ALG3-congenital disorder of glycosylation2 tests
  • ALG6-congenital disorder of glycosylation 1C2 tests
  • ALG8 congenital disorder of glycosylation2 tests
  • ALG9 congenital disorder of glycosylation2 tests
  • Alkuraya-Kucinskas syndrome2 tests
  • Allan-Herndon-Dudley syndrome3 tests
  • alpha Thalassemia4 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome8 tests
  • alpha, alpha-Trehalase deficiency1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alpha-2-plasmin inhibitor deficiency1 test
  • Alpha-methylacyl-CoA racemase deficiency4 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 12 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 22 tests
  • Alport syndrome1 test
  • Alstrom syndrome6 tests
  • Alternating hemiplegia of childhood 12 tests
  • Alternating hemiplegia of childhood 26 tests
  • Alveolar rhabdomyosarcoma2 tests
  • Alzheimer disease6 tests
  • Alzheimer disease 22 tests
  • Alzheimer disease 37 tests
  • Alzheimer disease 47 tests
  • Alzheimer disease type 11 test
  • Amaurosis-hypertrichosis syndrome1 test
  • Amegakaryocytic thrombocytopenia, congenital, 21 test
  • Amelocerebrohypohidrotic syndrome1 test
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta hypomaturation type 2A21 test
  • Amelogenesis imperfecta hypomaturation type 2A31 test
  • Amelogenesis imperfecta hypomaturation type 2A41 test
  • Amelogenesis imperfecta hypomaturation type 2A51 test
  • Amelogenesis imperfecta type 1A1 test
  • Amelogenesis imperfecta type 1C1 test
  • Amelogenesis imperfecta type 1E2 tests
  • Amelogenesis imperfecta type 1F1 test
  • Amelogenesis imperfecta type 1G2 tests
  • Amelogenesis imperfecta type 1H1 test
  • Amelogenesis imperfecta type 2A11 test
  • Amelogenesis imperfecta type 3B1 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amelogenesis imperfecta, hypomaturation type, IIa61 test
  • Amelogenesis imperfecta, IIa 1K1 test
  • Amelogenesis imperfecta, type 1J1 test
  • Amelogenesis imperfecta, type 3C1 test
  • Aminoacylase 1 deficiency1 test
  • Aminoglycoside-induced deafness2 tests
  • Amish lethal microcephaly2 tests
  • Amyloidosis, hereditary systemic 18 tests
  • Amyloidosis, hereditary systemic 61 test
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic lateral sclerosis 27, juvenile2 tests
  • Amyotrophic lateral sclerosis type 14 tests
  • Amyotrophic lateral sclerosis type 104 tests
  • Amyotrophic lateral sclerosis type 113 tests
  • Amyotrophic lateral sclerosis type 123 tests
  • Amyotrophic lateral sclerosis type 153 tests
  • Amyotrophic lateral sclerosis type 163 tests
  • Amyotrophic lateral sclerosis type 182 tests
  • Amyotrophic lateral sclerosis type 2, juvenile3 tests
  • Amyotrophic lateral sclerosis type 201 test
  • Amyotrophic lateral sclerosis type 213 tests
  • Amyotrophic lateral sclerosis type 222 tests
  • Amyotrophic lateral sclerosis type 232 tests
  • Amyotrophic lateral sclerosis type 43 tests
  • Amyotrophic lateral sclerosis type 53 tests
  • Amyotrophic lateral sclerosis type 63 tests
  • Amyotrophic lateral sclerosis type 82 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 244 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 252 tests
  • Amyotrophic neuralgia2 tests
  • Anauxetic dysplasia 12 tests
  • Andersen Tawil syndrome6 tests
  • Androgen resistance syndrome6 tests
  • Anemia, congenital dyserythropoietic, type 1a1 test
  • Anemia, congenital dyserythropoietic, type IVb1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
  • Aneurysm-osteoarthritis syndrome6 tests
  • Angelman syndrome4 tests
  • Aniridia 15 tests
  • Aniridia 24 tests
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome5 tests
  • Annular epidermolytic ichthyosis1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome12 tests
  • Anterior segment dysgenesis3 tests
  • Anterior segment dysgenesis 13 tests
  • Anterior segment dysgenesis 34 tests
  • Anterior segment dysgenesis 46 tests
  • Anterior segment dysgenesis 61 test
  • Anterior segment dysgenesis 74 tests
  • Anterior segment dysgenesis 81 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis3 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis8 tests
  • Aortic aneurysm, familial thoracic 102 tests
  • Aortic aneurysm, familial thoracic 11, susceptibility to4 tests
  • Aortic aneurysm, familial thoracic 45 tests
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 74 tests
  • Aortic aneurysm, familial thoracic 83 tests
  • Aortic aneurysm, familial thoracic 92 tests
  • Aortic valve disease 14 tests
  • Aortic valve disease 22 tests
  • Aortic valve disease 32 tests
  • Aplastic anemia10 tests
  • Arginase deficiency4 tests
  • Arginine:glycine amidinotransferase deficiency2 tests
  • Argininosuccinate lyase deficiency2 tests
  • Ariboflavinosis2 tests
  • Aromatase deficiency2 tests
  • Aromatase excess syndrome4 tests
  • Arrhinia with choanal atresia and microphthalmia syndrome1 test
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma4 tests
  • Arrhythmogenic right ventricular dysplasia 17 tests
  • Arrhythmogenic right ventricular dysplasia 105 tests
  • Arrhythmogenic right ventricular dysplasia 115 tests
  • Arrhythmogenic right ventricular dysplasia 125 tests
  • Arrhythmogenic right ventricular dysplasia 134 tests
  • Arrhythmogenic right ventricular dysplasia 25 tests
  • Arrhythmogenic right ventricular dysplasia 54 tests
  • Arrhythmogenic right ventricular dysplasia 86 tests
  • Arrhythmogenic right ventricular dysplasia 95 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 143 tests
  • Arterial calcification of infancy1 test
  • Arterial calcification, generalized, of infancy, 13 tests
  • Arterial calcification, generalized, of infancy, 24 tests
  • Arterial tortuosity syndrome5 tests
  • Arteriohepatic dysplasia1 test
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect1 test
  • Arthrogryposis, distal, IIa 111 test
  • Arthrogryposis, distal, type 1A2 tests
  • Arthrogryposis, distal, type 1B2 tests
  • Arthrogryposis, distal, type 2B33 tests
  • Arthrogryposis, distal, with impaired proprioception and touch1 test
  • Arthrogryposis, Perthes disease, and upward gaze palsy1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 12 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 22 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome2 tests
  • Arts syndrome1 test
  • Aspartylglucosaminuria2 tests
  • Asperger syndrome, X-linked, susceptibility to, 11 test
  • Asperger syndrome, X-linked, susceptibility to, 21 test
  • Asphyxiating thoracic dystrophy 23 tests
  • Asphyxiating thoracic dystrophy 37 tests
  • Asphyxiating thoracic dystrophy 42 tests
  • Asphyxiating thoracic dystrophy 52 tests
  • Asthma, nasal polyps, and aspirin intolerance1 test
  • Ataxia1 test
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
  • Ataxia - oculomotor apraxia type 41 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2 tests
  • Ataxia-pancytopenia syndrome3 tests
  • Ataxia-telangiectasia syndrome8 tests
  • Ataxia-telangiectasia-like disorder2 tests
  • Ataxia-telangiectasia-like disorder 11 test
  • Ateleiotic dwarfism1 test
  • Atelosteogenesis type I2 tests
  • Atelosteogenesis type II5 tests
  • Atelosteogenesis type III2 tests
  • Atrial conduction disease4 tests
  • Atrial fibrillation, familial, 105 tests
  • Atrial fibrillation, familial, 112 tests
  • Atrial fibrillation, familial, 124 tests
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 142 tests
  • Atrial fibrillation, familial, 152 tests
  • Atrial fibrillation, familial, 182 tests
  • Atrial fibrillation, familial, 33 tests
  • Atrial fibrillation, familial, 42 tests
  • Atrial fibrillation, familial, 63 tests
  • Atrial fibrillation, familial, 73 tests
  • Atrial fibrillation, familial, 94 tests
  • Atrial septal defect 26 tests
  • Atrial septal defect 34 tests
  • Atrial septal defect 44 tests
  • Atrial septal defect 54 tests
  • Atrial septal defect 61 test
  • Atrial septal defect 75 tests
  • Atrial septal defect 81 test
  • Atrial septal defect 94 tests
  • Atrial standstill 21 test
  • Atrioventricular septal defect 46 tests
  • Atrioventricular septal defect 54 tests
  • Atrioventricular septal defect and common atrioventricular junction3 tests
  • Atrioventricular septal defect, susceptibility to, 22 tests
  • Atrophia bulborum hereditaria5 tests
  • Atypical glycine encephalopathy2 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with C3 anomaly1 test
  • Atypical hemolytic-uremic syndrome with I factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly2 tests
  • Au-Kline syndrome1 test
  • Auditory neuropathy-optic atrophy syndrome3 tests
  • Aural atresia, congenital1 test
  • Autism spectrum disorder1 test
  • Autism spectrum disorder due to AUTS2 deficiency2 tests
  • Autism, susceptibility to, 151 test
  • Autism, susceptibility to, 171 test
  • Autism, susceptibility to, 201 test
  • Autism, susceptibility to, X-linked 11 test
  • Autism, susceptibility to, X-linked 21 test
  • Autism, susceptibility to, X-linked 33 tests
  • Autism, susceptibility to, X-linked 41 test
  • Autoimmune disease with susceptibility to mycobacterium tuberculosis1 test
  • Autoimmune disease, multisystem, infantile-onset, 22 tests
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome3 tests
  • Autoimmune interstitial lung disease-arthritis syndrome1 test
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency4 tests
  • Autoimmune lymphoproliferative syndrome type 14 tests
  • Autoimmune lymphoproliferative syndrome type 2A3 tests
  • Autoimmune lymphoproliferative syndrome type 2B3 tests
  • Autoimmune lymphoproliferative syndrome type 410 tests
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2 tests
  • Autoinflammation with arthritis and dyskeratosis1 test
  • Autoinflammation with arthritis and vasculitis2 tests
  • Autoinflammation with episodic fever and lymphadenopathy3 tests
  • Autoinflammation with pulmonary and cutaneous vasculitis1 test
  • Autoinflammation, immune dysregulation, and eosinophilia2 tests
  • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant1 test
  • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive1 test
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
  • Autoinflammatory disease, X-linked2 tests
  • Autoinflammatory syndrome with immunodeficiency1 test
  • Autoinflammatory syndrome, familial, Behcet-like 13 tests
  • Autoinflammatory syndrome, familial, X-linked, Behcet-like 21 test
  • Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency2 tests
  • Autosomal dominant Alport syndrome3 tests
  • Autosomal dominant aplasia and myelodysplasia4 tests
  • Autosomal dominant auditory neuropathy 11 test
  • Autosomal dominant centronuclear myopathy1 test
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W3 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures2 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
  • Autosomal dominant distal renal tubular acidosis3 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome7 tests
  • Autosomal dominant hypocalcemia 13 tests
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant hypophosphatemic rickets1 test
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2 tests
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant Kenny-Caffey syndrome2 tests
  • Autosomal dominant keratitis3 tests
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome3 tests
  • Autosomal dominant lamellar ichthyosis1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1F2 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
  • Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1 test
  • Autosomal dominant mitochondrial myopathy with exercise intolerance2 tests
  • Autosomal dominant nonsyndromic hearing loss 12 tests
  • Autosomal dominant nonsyndromic hearing loss 101 test
  • Autosomal dominant nonsyndromic hearing loss 111 test
  • Autosomal dominant nonsyndromic hearing loss 121 test
  • Autosomal dominant nonsyndromic hearing loss 135 tests
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 172 tests
  • Autosomal dominant nonsyndromic hearing loss 202 tests
  • Autosomal dominant nonsyndromic hearing loss 223 tests
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 272 tests
  • Autosomal dominant nonsyndromic hearing loss 281 test
  • Autosomal dominant nonsyndromic hearing loss 2A1 test
  • Autosomal dominant nonsyndromic hearing loss 2B2 tests
  • Autosomal dominant nonsyndromic hearing loss 361 test
  • Autosomal dominant nonsyndromic hearing loss 3A3 tests
  • Autosomal dominant nonsyndromic hearing loss 3B2 tests
  • Autosomal dominant nonsyndromic hearing loss 401 test
  • Autosomal dominant nonsyndromic hearing loss 411 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 4A2 tests
  • Autosomal dominant nonsyndromic hearing loss 4B1 test
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 501 test
  • Autosomal dominant nonsyndromic hearing loss 561 test
  • Autosomal dominant nonsyndromic hearing loss 65 tests
  • Autosomal dominant nonsyndromic hearing loss 641 test
  • Autosomal dominant nonsyndromic hearing loss 654 tests
  • Autosomal dominant nonsyndromic hearing loss 661 test
  • Autosomal dominant nonsyndromic hearing loss 671 test
  • Autosomal dominant nonsyndromic hearing loss 681 test
  • Autosomal dominant nonsyndromic hearing loss 691 test
  • Autosomal dominant nonsyndromic hearing loss 701 test
  • Autosomal dominant nonsyndromic hearing loss 91 test
  • Autosomal dominant Opitz G/BBB syndrome5 tests
  • Autosomal dominant optic atrophy classic form6 tests
  • Autosomal dominant osteopetrosis 13 tests
  • Autosomal dominant osteopetrosis 22 tests
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia3 tests
  • Autosomal dominant Parkinson disease 11 test
  • Autosomal dominant Parkinson disease 41 test
  • Autosomal dominant Parkinson disease 81 test
  • Autosomal dominant polycystic kidney disease7 tests
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant Robinow syndrome 14 tests
  • Autosomal dominant Robinow syndrome 22 tests
  • Autosomal dominant Robinow syndrome 32 tests
  • Autosomal dominant slowed nerve conduction velocity1 test
  • Autosomal dominant spastic paraplegia type 94 tests
  • Autosomal dominant striatal neurodegeneration type 11 test
  • Autosomal dominant vitreoretinochoroidopathy4 tests
  • Autosomal recessive Alport syndrome3 tests
  • Autosomal recessive amelia1 test
  • Autosomal recessive ataxia due to ubiquinone deficiency3 tests
  • Autosomal recessive axonal neuropathy with neuromyotonia1 test
  • Autosomal recessive bestrophinopathy4 tests
  • Autosomal recessive complex spastic paraplegia type 9B4 tests
  • Autosomal recessive congenital ichthyosis 11 test
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 111 test
  • Autosomal recessive congenital ichthyosis 21 test
  • Autosomal recessive congenital ichthyosis 31 test
  • Autosomal recessive congenital ichthyosis 4A3 tests
  • Autosomal recessive congenital ichthyosis 4B2 tests
  • Autosomal recessive congenital ichthyosis 51 test
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive congenital ichthyosis 81 test
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 12 tests
  • Autosomal recessive cutis laxa type 2B1 test
  • Autosomal recessive cutis laxa type 2C1 test
  • Autosomal recessive cutis laxa type 2D1 test
  • Autosomal recessive distal renal tubular acidosis2 tests
  • Autosomal recessive distal spinal muscular atrophy 11 test
  • Autosomal recessive distal spinal muscular atrophy 21 test
  • Autosomal recessive DOPA responsive dystonia2 tests
  • Autosomal recessive early-onset Parkinson disease 231 test
  • Autosomal recessive early-onset Parkinson disease 61 test
  • Autosomal recessive early-onset Parkinson disease 71 test
  • Autosomal recessive hypophosphatemic bone disease2 tests
  • Autosomal recessive juvenile Parkinson disease 21 test
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive keratitis-ichthyosis-deafness syndrome3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2K3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2R11 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2T3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y1 test
  • Autosomal recessive limb-girdle muscular dystrophy type R181 test
  • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency1 test
  • Autosomal recessive multiple pterygium syndrome2 tests
  • Autosomal recessive nonsyndromic hearing loss 1011 test
  • Autosomal recessive nonsyndromic hearing loss 1021 test
  • Autosomal recessive nonsyndromic hearing loss 1031 test
  • Autosomal recessive nonsyndromic hearing loss 1041 test
  • Autosomal recessive nonsyndromic hearing loss 121 test
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 164 tests
  • Autosomal recessive nonsyndromic hearing loss 18A1 test
  • Autosomal recessive nonsyndromic hearing loss 18B1 test
  • Autosomal recessive nonsyndromic hearing loss 1A3 tests
  • Autosomal recessive nonsyndromic hearing loss 1B2 tests
  • Autosomal recessive nonsyndromic hearing loss 21 test
  • Autosomal recessive nonsyndromic hearing loss 211 test
  • Autosomal recessive nonsyndromic hearing loss 221 test
  • Autosomal recessive nonsyndromic hearing loss 231 test
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 251 test
  • Autosomal recessive nonsyndromic hearing loss 281 test
  • Autosomal recessive nonsyndromic hearing loss 291 test
  • Autosomal recessive nonsyndromic hearing loss 31 test
  • Autosomal recessive nonsyndromic hearing loss 301 test
  • Autosomal recessive nonsyndromic hearing loss 311 test
  • Autosomal recessive nonsyndromic hearing loss 321 test
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 371 test
  • Autosomal recessive nonsyndromic hearing loss 391 test
  • Autosomal recessive nonsyndromic hearing loss 42 tests
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 441 test
  • Autosomal recessive nonsyndromic hearing loss 481 test
  • Autosomal recessive nonsyndromic hearing loss 491 test
  • Autosomal recessive nonsyndromic hearing loss 535 tests
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Autosomal recessive nonsyndromic hearing loss 61 test
  • Autosomal recessive nonsyndromic hearing loss 611 test
  • Autosomal recessive nonsyndromic hearing loss 631 test
  • Autosomal recessive nonsyndromic hearing loss 662 tests
  • Autosomal recessive nonsyndromic hearing loss 672 tests
  • Autosomal recessive nonsyndromic hearing loss 681 test
  • Autosomal recessive nonsyndromic hearing loss 71 test
  • Autosomal recessive nonsyndromic hearing loss 702 tests
  • Autosomal recessive nonsyndromic hearing loss 741 test
  • Autosomal recessive nonsyndromic hearing loss 761 test
  • Autosomal recessive nonsyndromic hearing loss 772 tests
  • Autosomal recessive nonsyndromic hearing loss 791 test
  • Autosomal recessive nonsyndromic hearing loss 81 test
  • Autosomal recessive nonsyndromic hearing loss 84A1 test
  • Autosomal recessive nonsyndromic hearing loss 84B1 test
  • Autosomal recessive nonsyndromic hearing loss 864 tests
  • Autosomal recessive nonsyndromic hearing loss 881 test
  • Autosomal recessive nonsyndromic hearing loss 892 tests
  • Autosomal recessive nonsyndromic hearing loss 91 test
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Autosomal recessive nonsyndromic hearing loss 931 test
  • Autosomal recessive nonsyndromic hearing loss 972 tests
  • Autosomal recessive nonsyndromic hearing loss 981 test
  • Autosomal recessive omodysplasia1 test
  • Autosomal recessive optic atrophy, OPA7 type2 tests
  • Autosomal recessive osteopetrosis 14 tests
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 52 tests
  • Autosomal recessive osteopetrosis 71 test
  • Autosomal recessive osteopetrosis 82 tests
  • Autosomal recessive Parkinson disease 141 test
  • Autosomal recessive polycystic kidney disease5 tests
  • Autosomal recessive proximal renal tubular acidosis2 tests
  • Autosomal recessive Robinow syndrome4 tests
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency3 tests
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency4 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency3 tests
  • Autosomal recessive spastic paraplegia type 761 test
  • Autosomal recessive spastic paraplegia type 783 tests
  • Autosomal recessive spinocerebellar ataxia 121 test
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 71 test
  • Autosomal systemic lupus erythematosus type 161 test
  • Avascular necrosis of femoral head, primary, 18 tests
  • Avascular necrosis of femoral head, primary, 22 tests
  • Avellino corneal dystrophy1 test
  • Axenfeld-Rieger syndrome1 test
  • Axenfeld-Rieger syndrome type 17 tests
  • Axenfeld-Rieger syndrome type 34 tests
  • Axial spondylometaphyseal dysplasia1 test
  • Ayme-Gripp syndrome3 tests
  • Azorean disease1 test
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1 test
  • B4GALT1-congenital disorder of glycosylation1 test
  • Bailey-Bloch congenital myopathy3 tests
  • Baller-Gerold syndrome4 tests
  • Bamforth-Lazarus syndrome2 tests
  • Band heterotopia of brain1 test
  • Bannayan-Riley-Ruvalcaba syndrome7 tests
  • BAP1-related tumor predisposition syndrome4 tests
  • Baraitser-Winter syndrome1 test
  • Baraitser-Winter syndrome 16 tests
  • Baraitser-winter syndrome 22 tests
  • Barber-Say syndrome2 tests
  • Bardet-Biedl syndrome8 tests
  • Bardet-Biedl syndrome 14 tests
  • Bardet-Biedl syndrome 106 tests
  • Bardet-Biedl syndrome 116 tests
  • Bardet-Biedl syndrome 126 tests
  • Bardet-Biedl syndrome 136 tests
  • Bardet-Biedl syndrome 145 tests
  • Bardet-Biedl syndrome 153 tests
  • Bardet-Biedl syndrome 163 tests
  • Bardet-Biedl syndrome 174 tests
  • Bardet-Biedl syndrome 184 tests
  • Bardet-Biedl syndrome 195 tests
  • Bardet-Biedl syndrome 26 tests
  • Bardet-Biedl syndrome 206 tests
  • Bardet-biedl syndrome 214 tests
  • Bardet-Biedl syndrome 221 test
  • Bardet-Biedl syndrome 33 tests
  • Bardet-Biedl syndrome 45 tests
  • Bardet-Biedl syndrome 56 tests
  • Bardet-Biedl syndrome 63 tests
  • Bardet-Biedl syndrome 76 tests
  • Bardet-Biedl syndrome 86 tests
  • Bardet-Biedl syndrome 96 tests
  • Barrett esophagus1 test
  • Bartsocas-Papas syndrome 14 tests
  • Bartsocas-Papas syndrome 21 test
  • Bartter disease type 12 tests
  • Bartter disease type 22 tests
  • Bartter disease type 4A3 tests
  • Basal cell carcinoma, susceptibility to, 17 tests
  • Basal cell carcinoma, susceptibility to, 78 tests
  • Basal cell nevus syndrome 14 tests
  • Basal cell nevus syndrome 24 tests
  • Basal ganglia calcification, idiopathic, 43 tests
  • Basal ganglia calcification, idiopathic, 53 tests
  • Basal ganglia calcification, idiopathic, 62 tests
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive1 test
  • Basal laminar drusen3 tests
  • Beare-Stevenson cutis gyrata syndrome5 tests
  • Becker muscular dystrophy3 tests
  • Becker nevus syndrome2 tests
  • Beckwith-Wiedemann syndrome14 tests
  • Benign familial hematuria2 tests
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis type 12 tests
  • Benign recurrent intrahepatic cholestasis type 22 tests
  • Bent bone dysplasia syndrome 17 tests
  • BENTA disease4 tests
  • Bernard Soulier syndrome4 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant2 tests
  • beta Thalassemia2 tests
  • Beta-D-mannosidosis1 test
  • Beta-thalassemia-X-linked thrombocytopenia syndrome3 tests
  • Bethlem myopathy 1A2 tests
  • Bethlem myopathy 22 tests
  • Bietti crystalline corneoretinal dystrophy2 tests
  • Bifunctional peroxisomal enzyme deficiency5 tests
  • Bilateral frontoparietal polymicrogyria1 test
  • Bilateral microtia-deafness-cleft palate syndrome1 test
  • Bilateral parasagittal parieto-occipital polymicrogyria3 tests
  • Bile acid malabsorption, primary, 12 tests
  • BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 12 tests
  • Biotin-responsive basal ganglia disease3 tests
  • Biotinidase deficiency4 tests
  • Birt-Hogg-Dube syndrome4 tests
  • Birt-Hogg-Dube syndrome 11 test
  • Blau syndrome3 tests
  • Bleeding disorder, platelet-type, 13, susceptibility to2 tests
  • Bleeding disorder, platelet-type, 211 test
  • Bleeding disorder, platelet-type, 222 tests
  • Blepharocheilodontic syndrome 15 tests
  • Blepharocheilodontic syndrome 21 test
  • Blepharophimosis - intellectual disability syndrome, MKB type6 tests
  • Blepharophimosis - intellectual disability syndrome, SBBYS type2 tests
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome5 tests
  • Blepharophimosis-impaired intellectual development syndrome1 test
  • Blood group, ER1 test
  • BLOOD GROUP--LUTHERAN INHIBITOR2 tests
  • BLOOD GROUP--OK1 test
  • Bloom syndrome6 tests
  • BNAR syndrome3 tests
  • Body mass index quantitative trait locus 123 tests
  • Body mass index quantitative trait locus 181 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 41 test
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency2 tests
  • Bohring-Opitz syndrome4 tests
  • Bone fragility with contractures, arterial rupture, and deafness4 tests
  • Bone marrow failure syndrome 34 tests
  • Bone marrow failure syndrome 42 tests
  • Bone marrow failure syndrome 58 tests
  • Bone mineral density quantitative trait locus 11 test
  • Bone mineral density quantitative trait locus 184 tests
  • Bone osteosarcoma6 tests
  • Boomerang dysplasia2 tests
  • Borjeson-Forssman-Lehmann syndrome6 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
  • Bothnia retinal dystrophy2 tests
  • Brachydactyly type A12 tests
  • Brachydactyly type A1C2 tests
  • Brachydactyly type A1D1 test
  • Brachydactyly type B12 tests
  • Brachydactyly type B24 tests
  • Brachydactyly type C3 tests
  • Brachydactyly type D3 tests
  • Brachydactyly type E13 tests
  • Brachydactyly type E22 tests
  • Brachydactyly-arterial hypertension syndrome2 tests
  • Brachydactyly-elbow wrist dysplasia syndrome2 tests
  • Brachydactyly-syndactyly syndrome3 tests
  • Brachyolmia-amelogenesis imperfecta syndrome4 tests
  • Brachyrachia (short spine dysplasia)2 tests
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis1 test
  • Brain malformations with or without urinary tract defects1 test
  • Brain small vessel disease 1 with or without ocular anomalies11 tests
  • Brain small vessel disease 33 tests
  • Brain-lung-thyroid syndrome4 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency1 test
  • Branchiooculofacial syndrome4 tests
  • Branchiootic syndrome 15 tests
  • Branchiootic syndrome 33 tests
  • Branchiootorenal syndrome 15 tests
  • Branchiootorenal syndrome 23 tests
  • Breast-ovarian cancer, familial, susceptibility to, 111 tests
  • Breast-ovarian cancer, familial, susceptibility to, 216 tests
  • Breast-ovarian cancer, familial, susceptibility to, 35 tests
  • Breast-ovarian cancer, familial, susceptibility to, 45 tests
  • Breast-ovarian cancer, familial, susceptibility to, 54 tests
  • Brittle cornea syndrome 13 tests
  • Brittle cornea syndrome 24 tests
  • Brody myopathy2 tests
  • Bronchiectasis with or without elevated sweat chloride 14 tests
  • Brooke-Spiegler syndrome1 test
  • Brown-Vialetto-van Laere syndrome 16 tests
  • Brown-Vialetto-van Laere syndrome 27 tests
  • Bruck syndrome 11 test
  • Bruck syndrome 23 tests
  • Brugada syndrome1 test
  • Brugada syndrome 16 tests
  • Brugada syndrome 23 tests
  • Brugada syndrome 35 tests
  • Brugada syndrome 43 tests
  • Brugada syndrome 53 tests
  • Brugada syndrome 63 tests
  • Brugada syndrome 73 tests
  • Brugada syndrome 83 tests
  • Brugada syndrome 94 tests
  • Brunner syndrome1 test
  • Budd-Chiari syndrome2 tests
  • Bull's eye maculopathy1 test
  • C1 inhibitor deficiency2 tests
  • C1Q deficiency 11 test
  • C1Q deficiency 21 test
  • C1Q deficiency 31 test
  • Café-au-lait macules with pulmonary stenosis12 tests
  • Calvarial doughnut lesions-bone fragility syndrome1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome11 tests
  • Camptomelic dysplasia9 tests
  • Camptosynpolydactyly, complex2 tests
  • Candidiasis, familial, 61 test
  • Candidiasis, familial, 91 test
  • Capillary infantile hemangioma1 test
  • Capillary malformation-arteriovenous malformation 14 tests
  • Capillary malformation-arteriovenous malformation 22 tests
  • CARASIL syndrome5 tests
  • Carcinoid tumor of intestine2 tests
  • Carcinoma of cervix3 tests
  • Carcinoma of colon2 tests
  • Carcinoma of pancreas8 tests
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome3 tests
  • Cardiac arrhythmia, ankyrin-B-related4 tests
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies4 tests
  • Cardiac valvular dysplasia, X-linked9 tests
  • Cardiac, facial, and digital anomalies with developmental delay1 test
  • Cardiac-urogenital syndrome3 tests
  • Cardio-facio-cutaneous syndrome1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 15 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 24 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 31 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
  • Cardiofaciocutaneous syndrome 17 tests
  • Cardiofaciocutaneous syndrome 213 tests
  • Cardiofaciocutaneous syndrome 36 tests
  • Cardiofaciocutaneous syndrome 46 tests
  • Cardiomyopathy1 test
  • Cardiomyopathy, dilated, 2c3 tests
  • Cardiomyopathy, dilated, 2E1 test
  • Cardiomyopathy, dilated, 2F3 tests
  • Cardiomyopathy, dilated, 2G3 tests
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis1 test
  • Cardiomyopathy, familial hypertrophic 274 tests
  • Cardiomyopathy, familial hypertrophic, 283 tests
  • Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies3 tests
  • Cardiomyopathy, familial restrictive, 12 tests
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome3 tests
  • Carey-Fineman-Ziter syndrome 11 test
  • Carney complex - trismus - pseudocamptodactyly syndrome2 tests
  • Carney complex, type 14 tests
  • Carney-Stratakis syndrome9 tests
  • Carnitine acylcarnitine translocase deficiency6 tests
  • Carnitine palmitoyl transferase 1A deficiency5 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form8 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form7 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form8 tests
  • Carpal tunnel syndrome 11 test
  • Carpal tunnel syndrome 21 test
  • Carpenter syndrome1 test
  • Cataract1 test
  • Cataract 1 multiple types4 tests
  • Cataract 10 multiple types2 tests
  • Cataract 11 multiple types4 tests
  • Cataract 12 multiple types2 tests
  • Cataract 13 with adult I phenotype2 tests
  • Cataract 14 multiple types2 tests
  • Cataract 15 multiple types2 tests
  • Cataract 16 multiple types2 tests
  • Cataract 17 multiple types2 tests
  • Cataract 182 tests
  • Cataract 19 multiple types2 tests
  • Cataract 20 multiple types2 tests
  • Cataract 21 multiple types4 tests
  • Cataract 22 multiple types2 tests
  • Cataract 233 tests
  • Cataract 3 multiple types2 tests
  • Cataract 302 tests
  • Cataract 31 multiple types2 tests
  • Cataract 332 tests
  • Cataract 34 multiple types4 tests
  • Cataract 362 tests
  • Cataract 386 tests
  • Cataract 39 multiple types2 tests
  • Cataract 4 multiple types1 test
  • Cataract 404 tests
  • Cataract 415 tests
  • Cataract 421 test
  • Cataract 432 tests
  • Cataract 441 test
  • Cataract 451 test
  • Cataract 46 juvenile-onset1 test
  • Cataract 5 multiple types2 tests
  • Cataract 6 multiple types3 tests
  • Cataract 9 multiple types2 tests
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome2 tests
  • Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 12 tests
  • Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 22 tests
  • Catecholaminergic polymorphic ventricular tachycardia 15 tests
  • Catecholaminergic polymorphic ventricular tachycardia 23 tests
  • Catecholaminergic polymorphic ventricular tachycardia 34 tests
  • Catecholaminergic polymorphic ventricular tachycardia 43 tests
  • Catecholaminergic polymorphic ventricular tachycardia 55 tests
  • Catel-Manzke syndrome1 test
  • Caudal duplication1 test
  • CBL-related disorder8 tests
  • CCDC115-CDG1 test
  • CEDNIK syndrome2 tests
  • Celiac disease, susceptibility to, 33 tests
  • Cenani-Lenz syndactyly syndrome4 tests
  • Central core myopathy4 tests
  • Central diabetes insipidus1 test
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease2 tests
  • Central precocious puberty1 test
  • Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency3 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome5 tests
  • Cerebellar ataxia-hypogonadism syndrome2 tests
  • Cerebellar atrophy, visual impairment, and psychomotor retardation;1 test
  • Cerebellar, ocular, craniofacial, and genital syndrome1 test
  • Cerebral amyloid angiopathy, APP-related2 tests
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy3 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 14 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 24 tests
  • Cerebral arteriovenous malformation9 tests
  • Cerebral cavernous malformation3 tests
  • Cerebral cavernous malformation 23 tests
  • Cerebral cavernous malformation 32 tests
  • Cerebral cavernous malformation 41 test
  • Cerebral folate transport deficiency3 tests
  • Cerebral palsy, spastic quadriplegic, 21 test
  • Cerebrooculofacioskeletal syndrome 11 test
  • Cerebrooculofacioskeletal syndrome 22 tests
  • Cerebrooculofacioskeletal syndrome 32 tests
  • Cerebrooculofacioskeletal syndrome 42 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 15 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 23 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 34 tests
  • Cernunnos-XLF deficiency1 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
  • Ceroid lipofuscinosis, neuronal, 6A1 test
  • Cervical cancer3 tests
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease axonal type 2C5 tests
  • Charcot-Marie-Tooth disease axonal type 2CC2 tests
  • Charcot-Marie-Tooth disease axonal type 2F3 tests
  • Charcot-Marie-Tooth disease axonal type 2K2 tests
  • Charcot-Marie-Tooth disease axonal type 2L3 tests
  • Charcot-Marie-Tooth disease axonal type 2N4 tests
  • Charcot-Marie-Tooth disease axonal type 2O4 tests
  • Charcot-Marie-Tooth disease axonal type 2P2 tests
  • Charcot-Marie-Tooth disease axonal type 2Q3 tests
  • Charcot-Marie-Tooth disease axonal type 2S3 tests
  • Charcot-Marie-Tooth disease axonal type 2T2 tests
  • Charcot-Marie-Tooth disease axonal type 2U2 tests
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease axonal type 2X2 tests
  • Charcot-Marie-Tooth disease axonal type 2Z2 tests
  • Charcot-Marie-Tooth disease dominant intermediate B2 tests
  • Charcot-Marie-Tooth disease dominant intermediate C2 tests
  • Charcot-Marie-Tooth disease dominant intermediate D2 tests
  • Charcot-Marie-Tooth disease dominant intermediate E3 tests
  • Charcot-Marie-Tooth disease dominant intermediate F2 tests
  • Charcot-Marie-Tooth disease recessive intermediate A2 tests
  • Charcot-Marie-Tooth disease recessive intermediate B3 tests
  • Charcot-Marie-Tooth disease recessive intermediate C3 tests
  • Charcot-Marie-Tooth disease recessive intermediate D2 tests
  • Charcot-Marie-Tooth disease type 1B2 tests
  • Charcot-Marie-Tooth disease type 1C2 tests
  • Charcot-Marie-Tooth disease type 1D2 tests
  • Charcot-Marie-Tooth disease type 1E1 test
  • Charcot-Marie-Tooth disease type 1F2 tests
  • Charcot-Marie-Tooth disease type 21 test
  • Charcot-Marie-Tooth disease type 2A13 tests
  • Charcot-Marie-Tooth disease type 2A25 tests
  • Charcot-Marie-Tooth disease type 2B2 tests
  • Charcot-Marie-Tooth disease type 2B14 tests
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2D3 tests
  • Charcot-Marie-Tooth disease type 2E2 tests
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J2 tests
  • Charcot-Marie-Tooth disease type 2R2 tests
  • Charcot-Marie-Tooth disease type 2Y4 tests
  • Charcot-Marie-Tooth disease type 4A2 tests
  • Charcot-Marie-Tooth disease type 4B12 tests
  • Charcot-Marie-Tooth disease type 4B24 tests
  • Charcot-Marie-Tooth disease type 4B33 tests
  • Charcot-Marie-Tooth disease type 4C2 tests
  • Charcot-Marie-Tooth disease type 4D2 tests
  • Charcot-Marie-Tooth disease type 4E1 test
  • Charcot-Marie-Tooth disease type 4F3 tests
  • Charcot-Marie-Tooth disease type 4G2 tests
  • Charcot-Marie-Tooth disease type 4H2 tests
  • Charcot-Marie-Tooth disease type 4J6 tests
  • Charcot-Marie-Tooth disease type 4K3 tests
  • Charcot-Marie-Tooth disease X-linked dominant 13 tests
  • Charcot-Marie-Tooth disease X-linked dominant 62 tests
  • Charcot-Marie-Tooth disease X-linked recessive 43 tests
  • Charcot-Marie-Tooth disease X-linked recessive 53 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2 tests
  • Charcot-Marie-Tooth disease, axonal, IIa 2II1 test
  • Charcot-Marie-tooth disease, axonal, type 2DD2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2EE5 tests
  • Charcot-Marie-Tooth disease, axonal, type 2FF1 test
  • Charcot-Marie-Tooth Disease, axonal, type 2GG1 test
  • Charcot-Marie-Tooth disease, axonal, Type 2HH2 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
  • Charcot-Marie-Tooth disease, demyelinating, IIA 1I1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1G2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1J1 test
  • Charcot-Marie-Tooth disease, type IA3 tests
  • Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome2 tests
  • CHARGE syndrome18 tests
  • Charlevoix-Saguenay spastic ataxia1 test
  • CHEK2-related cancer predisposition7 tests
  • Chilblain lupus 12 tests
  • Chilblain lupus 21 test
  • Child syndrome3 tests
  • Childhood apraxia of speech1 test
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency2 tests
  • Childhood hypophosphatasia5 tests
  • Childhood onset GLUT1 deficiency syndrome 24 tests
  • CHIME syndrome2 tests
  • Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome2 tests
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
  • Cholestanol storage disease9 tests
  • Cholestasis, intrahepatic, of pregnancy, 12 tests
  • Cholestasis, intrahepatic, of pregnancy, 32 tests
  • Cholestasis, progressive familial intrahepatic, 121 test
  • Cholestasis, progressive familial intrahepatic, 43 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Cholesteryl ester storage disease1 test
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type2 tests
  • Chondrodysplasia punctata1 test
  • Chondrodysplasia punctata 2 X-linked dominant5 tests
  • Chondrodysplasia with joint dislocations, gPAPP type1 test
  • Chondrosarcoma2 tests
  • Choroid plexus papilloma11 tests
  • Choroidal dystrophy, central areolar 21 test
  • Choroidal dystrophy, central areolar, 11 test
  • Choroideremia2 tests
  • Christianson syndrome2 tests
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb1 test
  • Chromosome 2p16.3 deletion syndrome2 tests
  • Chromosome 2q32-q33 deletion syndrome2 tests
  • Chronic infantile neurological, cutaneous and articular syndrome3 tests
  • Chronic obstructive pulmonary disease1 test
  • Chronic pancreatitis1 test
  • Chudley-McCullough syndrome3 tests
  • Chuvash polycythemia6 tests
  • Chylomicron retention disease1 test
  • Chédiak-Higashi syndrome8 tests
  • CIDEC-related familial partial lipodystrophy1 test
  • Ciliary dyskinesia, primary, 36, X-linked3 tests
  • Ciliary dyskinesia, primary, 374 tests
  • Ciliary dyskinesia, primary, 384 tests
  • Ciliary dyskinesia, primary, 394 tests
  • Ciliary dyskinesia, primary, 405 tests
  • Ciliary dyskinesia, primary, 414 tests
  • Ciliary dyskinesia, primary, 422 tests
  • Ciliary dyskinesia, primary, 435 tests
  • Ciliary dyskinesia, primary, 454 tests
  • Ciliary dyskinesia, primary, 463 tests
  • Ciliopathy1 test
  • Citrullinemia type I3 tests
  • Citrullinemia type II3 tests
  • Citrullinemia, type II, adult-onset2 tests
  • CK syndrome2 tests
  • CLAPO syndrome2 tests
  • Clark-Baraitser syndrome2 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic Hodgkin lymphoma1 test
  • Classic homocystinuria7 tests
  • Classical phenylketonuria1 test
  • Cleft lip/palate-ectodermal dysplasia syndrome2 tests
  • Cleft palate with or without ankyloglossia, X-linked1 test
  • Cleft palate, proliferative retinopathy, and developmental delay1 test
  • Cleidocranial dysostosis2 tests
  • CLOVES syndrome2 tests
  • Clubfoot1 test
  • COACH syndrome2 tests
  • COACH syndrome 22 tests
  • Coats plus syndrome2 tests
  • Cobalamin C disease4 tests
  • Cockayne syndrome type 12 tests
  • Cockayne syndrome type 21 test
  • Cocoon syndrome1 test
  • CODAS syndrome3 tests
  • Coenzyme Q10 deficiency2 tests
  • Coenzyme Q10 deficiency, primary, 13 tests
  • Coenzyme Q10 deficiency, primary, 33 tests
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome1 test
  • Coffin-Siris syndrome 16 tests
  • Coffin-Siris syndrome 101 test
  • Coffin-Siris syndrome 56 tests
  • Coffin-Siris syndrome 61 test
  • Coffin-Siris syndrome 72 tests
  • Coffin-Siris syndrome 82 tests
  • COG1 congenital disorder of glycosylation1 test
  • COG4-congenital disorder of glycosylation1 test
  • COG5-congenital disorder of glycosylation2 tests
  • COG6-congenital disorder of glycosylation2 tests
  • COG7 congenital disorder of glycosylation2 tests
  • COG8-congenital disorder of glycosylation1 test
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1 test
  • Cognitive impairment with or without cerebellar ataxia2 tests
  • Cohen syndrome8 tests
  • Cohen-Gibson syndrome1 test
  • Cole-Carpenter syndrome 12 tests
  • Cole-Carpenter syndrome 24 tests
  • Coloboma of optic nerve5 tests
  • Coloboma, ocular, autosomal dominant3 tests
  • Coloboma, ocular, autosomal recessive1 test
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness4 tests
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome3 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome3 tests
  • Colorectal cancer9 tests
  • Colorectal cancer, hereditary nonpolyposis, type 216 tests
  • Colorectal cancer, hereditary nonpolyposis, type 64 tests
  • Colorectal cancer, hereditary nonpolyposis, type 73 tests
  • Colorectal cancer, susceptibility to, 12 tests
  • Colorectal cancer, susceptibility to, 107 tests
  • Colorectal cancer, susceptibility to, 127 tests
  • Colorectal carcinoma10 tests
  • Combined deficiency of sialidase AND beta galactosidase5 tests
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia2 tests
  • Combined immunodeficiency due to CD3gamma deficiency2 tests
  • Combined immunodeficiency due to CTPS1 deficiency1 test
  • Combined immunodeficiency due to DOCK8 deficiency3 tests
  • Combined immunodeficiency due to GINS1 deficiency3 tests
  • Combined immunodeficiency due to LRBA deficiency4 tests
  • Combined immunodeficiency due to MALT1 deficiency2 tests
  • Combined immunodeficiency due to moesin deficiency1 test
  • Combined immunodeficiency due to ORAI1 deficiency2 tests
  • Combined immunodeficiency due to OX40 deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency2 tests
  • Combined immunodeficiency due to STIM1 deficiency5 tests
  • Combined immunodeficiency due to STK4 deficiency1 test
  • Combined immunodeficiency due to ZAP70 deficiency2 tests
  • Combined immunodeficiency with faciooculoskeletal anomalies1 test
  • Combined immunodeficiency with skin granulomas2 tests
  • Combined immunodeficiency, X-linked3 tests
  • Combined malonic and methylmalonic acidemia3 tests
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 12 tests
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 22 tests
  • Combined oxidative phosphorylation defect type 111 test
  • Combined oxidative phosphorylation defect type 132 tests
  • Combined oxidative phosphorylation defect type 142 tests
  • Combined oxidative phosphorylation defect type 153 tests
  • Combined oxidative phosphorylation defect type 174 tests
  • Combined oxidative phosphorylation defect type 21 test
  • Combined oxidative phosphorylation defect type 202 tests
  • Combined oxidative phosphorylation defect type 211 test
  • Combined oxidative phosphorylation defect type 231 test
  • Combined oxidative phosphorylation defect type 243 tests
  • Combined oxidative phosphorylation defect type 251 test
  • Combined oxidative phosphorylation defect type 263 tests
  • Combined oxidative phosphorylation defect type 271 test
  • Combined oxidative phosphorylation defect type 302 tests
  • Combined oxidative phosphorylation defect type 42 tests
  • Combined oxidative phosphorylation defect type 73 tests
  • Combined oxidative phosphorylation defect type 82 tests
  • Combined oxidative phosphorylation defect type 91 test
  • Combined oxidative phosphorylation deficiency1 test
  • Combined oxidative phosphorylation deficiency 191 test
  • Combined oxidative phosphorylation deficiency 221 test
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 321 test
  • Combined oxidative phosphorylation deficiency 333 tests
  • Combined oxidative phosphorylation deficiency 342 tests
  • Combined oxidative phosphorylation deficiency 351 test
  • Combined oxidative phosphorylation deficiency 362 tests
  • Combined oxidative phosphorylation deficiency 372 tests
  • Combined oxidative phosphorylation deficiency 381 test
  • Combined oxidative phosphorylation deficiency 391 test
  • Combined oxidative phosphorylation deficiency 401 test
  • Combined oxidative phosphorylation deficiency 412 tests
  • Combined oxidative phosphorylation deficiency 421 test
  • Combined oxidative phosphorylation deficiency 431 test
  • Combined oxidative phosphorylation deficiency 441 test
  • Combined oxidative phosphorylation deficiency 461 test
  • Combined oxidative phosphorylation deficiency 471 test
  • Combined oxidative phosphorylation deficiency 501 test
  • Combined oxidative phosphorylation deficiency 531 test
  • Combined oxidative phosphorylation deficiency 562 tests
  • Combined PSAP deficiency2 tests
  • Common variable immunodeficiency2 tests
  • Complement component 2 deficiency1 test
  • Complement component 3 deficiency1 test
  • Complement component 5 deficiency1 test
  • Complement component 6 deficiency1 test
  • Complement component 7 deficiency1 test
  • Complement component 9 deficiency1 test
  • Complement component C1s deficiency1 test
  • Complement factor b deficiency1 test
  • Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome2 tests
  • Complex cortical dysplasia with other brain malformations1 test
  • Complex cortical dysplasia with other brain malformations 12 tests
  • Complex cortical dysplasia with other brain malformations 72 tests
  • Complex lethal osteochondrodysplasia4 tests
  • Complex V deficiency1 test
  • Compton-North congenital myopathy1 test
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy2 tests
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 132 tests
  • Cone-rod dystrophy 151 test
  • Cone-rod dystrophy 163 tests
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 21 test
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 62 tests
  • Cone-rod dystrophy and hearing loss 11 test
  • Cone-rod dystrophy and hearing loss 21 test
  • Cone-rod synaptic disorder, congenital nonprogressive2 tests
  • Congenital absence of salivary gland3 tests
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency8 tests
  • Congenital adrenal hypoplasia, X-linked7 tests
  • Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency6 tests
  • Congenital afibrinogenemia2 tests
  • Congenital amegakaryocytic thrombocytopenia2 tests
  • Congenital amegakaryocytic thrombocytopenia 11 test
  • Congenital anomalies of kidney and urinary tract 12 tests
  • Congenital anomalies of kidney and urinary tract 21 test
  • Congenital anomalies of kidney and urinary tract 31 test
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3 tests
  • Congenital anomaly of eye1 test
  • Congenital anomaly of kidney and urinary tract2 tests
  • Congenital aphakia1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation7 tests
  • Congenital bile acid synthesis defect 12 tests
  • Congenital bile acid synthesis defect 21 test
  • Congenital bile acid synthesis defect 32 tests
  • Congenital bile acid synthesis defect 44 tests
  • Congenital bile acid synthesis defect 51 test
  • Congenital bile acid synthesis defect 61 test
  • Congenital brain dysgenesis due to glutamine synthetase deficiency2 tests
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome4 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome4 tests
  • Congenital central hypoventilation7 tests
  • Congenital contractural arachnodactyly4 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay4 tests
  • Congenital defect of folate absorption3 tests
  • Congenital diarrhea 5 with tufting enteropathy8 tests
  • Congenital diarrhea 62 tests
  • Congenital diarrhea 7 with exudative enteropathy1 test
  • Congenital disorder of deglycosylation2 tests
  • Congenital disorder of glycosylation1 test
  • Congenital disorder of glycosylation type 1E3 tests
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation, type ICC3 tests
  • Congenital disorder of glycosylation, type IIq1 test
  • Congenital disorder of glycosylation, type IIw2 tests
  • Congenital dyserythropoietic anemia type 43 tests
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type I2 tests
  • Congenital dyserythropoietic anemia, type II3 tests
  • Congenital factor V deficiency2 tests
  • Congenital fibrosis of extraocular muscles1 test
  • Congenital fibrosis of extraocular muscles type 11 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 22 tests
  • Congenital generalized lipodystrophy type 31 test
  • Congenital generalized lipodystrophy type 43 tests
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart defects and skeletal malformations syndrome1 test
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
  • Congenital heart defects, multiple types, 21 test
  • Congenital heart defects, multiple types, 43 tests
  • Congenital heart defects, multiple types, 52 tests
  • Congenital heart defects, multiple types, 62 tests
  • Congenital heart defects, multiple types, 71 test
  • Congenital heart defects, multiple types, 8, with or without heterotaxy1 test
  • Congenital heart disease2 tests
  • Congenital hereditary endothelial dystrophy of cornea1 test
  • Congenital hyperammonemia, type I4 tests
  • Congenital hypomyelinating neuropathy1 test
  • Congenital hypothalamic hamartoma syndrome3 tests
  • Congenital hypothyroidism1 test
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome2 tests
  • Congenital insensitivity to pain-hypohidrosis syndrome1 test
  • Congenital isolated adrenocorticotropic hormone deficiency1 test
  • Congenital lactase deficiency1 test
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type3 tests
  • Congenital lipoid adrenal hyperplasia due to STAR deficency5 tests
  • Congenital macrodactylia3 tests
  • Congenital malabsorptive diarrhea 42 tests
  • Congenital microvillous atrophy3 tests
  • Congenital multicore myopathy with external ophthalmoplegia4 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency2 tests
  • Congenital muscular dystrophy due to LMNA mutation3 tests
  • Congenital muscular dystrophy with cataracts and intellectual disability1 test
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy3 tests
  • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome2 tests
  • Congenital muscular hypertrophy-cerebral syndrome7 tests
  • Congenital myasthenic syndrome 102 tests
  • Congenital myasthenic syndrome 112 tests
  • Congenital myasthenic syndrome 122 tests
  • Congenital myasthenic syndrome 132 tests
  • Congenital myasthenic syndrome 142 tests
  • Congenital myasthenic syndrome 152 tests
  • Congenital myasthenic syndrome 163 tests
  • Congenital myasthenic syndrome 171 test
  • Congenital myasthenic syndrome 181 test
  • Congenital myasthenic syndrome 193 tests
  • Congenital myasthenic syndrome 1A3 tests
  • Congenital myasthenic syndrome 202 tests
  • Congenital myasthenic syndrome 212 tests
  • Congenital myasthenic syndrome 2A2 tests
  • Congenital myasthenic syndrome 2C1 test
  • Congenital myasthenic syndrome 3A2 tests
  • Congenital myasthenic syndrome 3B3 tests
  • Congenital myasthenic syndrome 3C2 tests
  • Congenital myasthenic syndrome 4A2 tests
  • Congenital myasthenic syndrome 4B2 tests
  • Congenital myasthenic syndrome 4C2 tests
  • Congenital myasthenic syndrome 52 tests
  • Congenital myasthenic syndrome 72 tests
  • Congenital myasthenic syndrome 82 tests
  • Congenital myasthenic syndrome 92 tests
  • Congenital myopathy 111 test
  • Congenital myopathy 151 test
  • Congenital myopathy 201 test
  • Congenital myopathy 21 with early respiratory failure1 test
  • Congenital myopathy 22A, classic1 test
  • Congenital myopathy 22B, severe fetal1 test
  • Congenital myopathy 231 test
  • Congenital myopathy 4A, autosomal dominant1 test
  • Congenital myopathy 4B, autosomal recessive1 test
  • Congenital myopathy with internal nuclei and atypical cores1 test
  • Congenital myopathy with reduced type 2 muscle fibers1 test
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome3 tests
  • Congenital nongoitrous hypothyroidism 61 test
  • Congenital ocular coloboma2 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Congenital primary aphakia4 tests
  • Congenital prothrombin deficiency2 tests
  • Congenital reticular ichthyosiform erythroderma1 test
  • Congenital secretory diarrhea, chloride type2 tests
  • Congenital secretory sodium diarrhea 81 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2 tests
  • Congenital smooth muscle hamartoma, with or without hemihypertrophy2 tests
  • Congenital sodium diarrhea2 tests
  • Congenital stationary night blindness1 test
  • Congenital stationary night blindness 1A2 tests
  • Congenital stationary night blindness 1B2 tests
  • Congenital stationary night blindness 1C2 tests
  • Congenital stationary night blindness 1D2 tests
  • Congenital stationary night blindness 1E2 tests
  • Congenital stationary night blindness 1F2 tests
  • Congenital stationary night blindness 1G2 tests
  • Congenital stationary night blindness 1H1 test
  • Congenital stationary night blindness 2A3 tests
  • Congenital stationary night blindness autosomal dominant 12 tests
  • Congenital stationary night blindness autosomal dominant 22 tests
  • Congenital stationary night blindness autosomal dominant 32 tests
  • Congenital stromal corneal dystrophy2 tests
  • Conotruncal heart malformations9 tests
  • Constitutional megaloblastic anemia with severe neurologic disease1 test
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A5 tests
  • Contractures, pterygia, and variable skeletal fusions syndrome 1B2 tests
  • Cornea plana 22 tests
  • Corneal dystrophy, Fuchs endothelial, 13 tests
  • Corneal dystrophy, Fuchs endothelial, 34 tests
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 62 tests
  • Corneal dystrophy, Fuchs endothelial, 82 tests
  • Corneal dystrophy, lattice type 3A1 test
  • Corneal dystrophy, posterior polymorphous, 44 tests
  • Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
  • Cornelia de Lange syndrome 18 tests
  • Cornelia de Lange syndrome 35 tests
  • Cornelia de Lange syndrome 46 tests
  • Cornelia de Lange syndrome 55 tests
  • Corpus callosum agenesis-abnormal genitalia syndrome4 tests
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome1 test
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Costello syndrome13 tests
  • Cowden syndrome3 tests
  • Cowden syndrome 116 tests
  • Cowden syndrome 31 test
  • Cowden syndrome 55 tests
  • Cowden syndrome 61 test
  • Cowden syndrome 72 tests
  • Coxopodopatellar syndrome2 tests
  • Craniodiaphyseal dysplasia, autosomal dominant1 test
  • Cranioectodermal dysplasia 13 tests
  • Cranioectodermal dysplasia 25 tests
  • Cranioectodermal dysplasia 31 test
  • Cranioectodermal dysplasia 42 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome3 tests
  • Craniofacial dysplasia - osteopenia syndrome1 test
  • Craniofacial-deafness-hand syndrome3 tests
  • Craniofrontonasal syndrome5 tests
  • Craniolenticulosutural dysplasia1 test
  • Craniometaphyseal dysplasia, autosomal dominant1 test
  • Craniometaphyseal dysplasia, autosomal recessive6 tests
  • Craniosynostosis 21 test
  • Craniosynostosis syndrome1 test
  • Crigler-Najjar syndrome1 test
  • Crigler-Najjar syndrome type 13 tests
  • Crigler-Najjar syndrome, type II3 tests
  • Cromer blood group system2 tests
  • Crouzon syndrome8 tests
  • Crouzon syndrome-acanthosis nigricans syndrome10 tests
  • Cryohydrocytosis1 test
  • Cryptophthalmos syndrome3 tests
  • Cryptorchidism2 tests
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome1 test
  • CTCF-related neurodevelopmental disorder3 tests
  • Curly hair, ankyloblepharon, nail dysplasia syndrome2 tests
  • Currarino triad3 tests
  • Curry-Hall syndrome5 tests
  • Curry-Jones syndrome1 test
  • Cutaneous mastocytosis4 tests
  • Cutaneous porphyria2 tests
  • Cutis laxa with osteodystrophy3 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
  • Cutis laxa, autosomal dominant 13 tests
  • Cutis laxa, autosomal dominant 22 tests
  • Cutis laxa, autosomal dominant 33 tests
  • Cutis laxa, autosomal recessive, type 1B3 tests
  • Cutis laxa, X-linked5 tests
  • Cyclical neutropenia5 tests
  • Cystic fibrosis10 tests
  • Cystic leukoencephalopathy without megalencephaly1 test
  • Cystinuria2 tests
  • Cytochrome-c oxidase deficiency3 tests
  • D,L-2-hydroxyglutaric aciduria1 test
  • D-2-hydroxyglutaric aciduria 13 tests
  • D-2-hydroxyglutaric aciduria 22 tests
  • Dalmatian hypouricemia2 tests
  • Danon disease9 tests
  • DDX41-related hematologic malignancy predisposition syndrome3 tests
  • de Barsy syndrome1 test
  • De Lange syndrome4 tests
  • Deafness dystonia syndrome3 tests
  • Deafness with labyrinthine aplasia, microtia, and microdontia1 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12 tests
  • Deafness, congenital heart defects, and posterior embryotoxon7 tests
  • Deafness, X-linked 52 tests
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome3 tests
  • Deafness-lymphedema-leukemia syndrome4 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase3 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase6 tests
  • Deficiency of acetyl-CoA acetyltransferase6 tests
  • Deficiency of alpha-mannosidase2 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase2 tests
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of butyryl-CoA dehydrogenase6 tests
  • Deficiency of butyrylcholinesterase1 test
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase4 tests
  • Deficiency of galactokinase4 tests
  • Deficiency of guanidinoacetate methyltransferase2 tests
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase7 tests
  • Deficiency of iodide peroxidase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of malonyl-CoA decarboxylase5 tests
  • Deficiency of steroid 11-beta-monooxygenase3 tests
  • Deficiency of steroid 17-alpha-monooxygenase6 tests
  • Deficiency of transaldolase3 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase5 tests
  • Dehydrated hereditary stomatocytosis 22 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema3 tests
  • Dejerine-Sottas disease2 tests
  • Dent disease type 13 tests
  • Dent disease type 24 tests
  • Dentatorubral-pallidoluysian atrophy1 test
  • Dentin dysplasia type I1 test
  • Dentinogenesis imperfecta type 23 tests
  • Dentinogenesis imperfecta type 33 tests
  • Dermatitis, atopic, 21 test
  • Dermatofibrosarcoma protuberans1 test
  • DeSanto-Shinawi syndrome3 tests
  • Desbuquois dysplasia 14 tests
  • Desbuquois dysplasia 22 tests
  • Desmin-related myofibrillar myopathy2 tests
  • Desmoid disease, hereditary7 tests
  • Desmosterolosis4 tests
  • Developmental and epileptic encephalopathy 931 test
  • Developmental and epileptic encephalopathy 942 tests
  • Developmental and epileptic encephalopathy 991 test
  • Developmental and epileptic encephalopathy, 12 tests
  • Developmental and epileptic encephalopathy, 113 tests
  • Developmental and epileptic encephalopathy, 132 tests
  • Developmental and epileptic encephalopathy, 164 tests
  • Developmental and epileptic encephalopathy, 171 test
  • Developmental and epileptic encephalopathy, 181 test
  • Developmental and epileptic encephalopathy, 191 test
  • Developmental and epileptic encephalopathy, 22 tests
  • Developmental and epileptic encephalopathy, 241 test
  • Developmental and epileptic encephalopathy, 262 tests
  • Developmental and epileptic encephalopathy, 272 tests
  • Developmental and epileptic encephalopathy, 281 test
  • Developmental and epileptic encephalopathy, 292 tests
  • Developmental and epileptic encephalopathy, 321 test
  • Developmental and epileptic encephalopathy, 361 test
  • Developmental and epileptic encephalopathy, 391 test
  • Developmental and epileptic encephalopathy, 42 tests
  • Developmental and epileptic encephalopathy, 423 tests
  • Developmental and epileptic encephalopathy, 433 tests
  • Developmental and epileptic encephalopathy, 52 tests
  • Developmental and epileptic encephalopathy, 501 test
  • Developmental and epileptic encephalopathy, 511 test
  • Developmental and epileptic encephalopathy, 542 tests
  • Developmental and epileptic encephalopathy, 641 test
  • Developmental and epileptic encephalopathy, 71 test
  • Developmental and epileptic encephalopathy, 751 test
  • Developmental and epileptic encephalopathy, 81 test
  • Developmental and epileptic encephalopathy, 811 test
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
  • Developmental and epileptic encephalopathy, 91 test
  • Developmental delay1 test
  • Developmental delay with hypotonia, myopathy, and brain abnormalities1 test
  • Developmental delay with or without dysmorphic facies and autism1 test
  • Developmental delay with or without epilepsy1 test
  • Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
  • Developmental delay, hypotonia, and impaired language1 test
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1 test
  • Developmental malformations-deafness-dystonia syndrome5 tests
  • Dextro-looped transposition of the great arteries3 tests
  • Diabetes insipidus, nephrogenic, autosomal1 test
  • Diabetes insipidus, nephrogenic, X-linked1 test
  • Diabetes mellitus type 12 tests
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, noninsulin-dependent, 52 tests
  • Diabetes mellitus, permanent neonatal 21 test
  • Diabetes mellitus, permanent neonatal 33 tests
  • Diabetes mellitus, permanent neonatal 42 tests
  • Diabetes mellitus, transient neonatal, 12 tests
  • Diabetes mellitus, transient neonatal, 22 tests
  • Diabetes mellitus, transient neonatal, 31 test
  • Diamond-Blackfan anemia1 test
  • Diamond-Blackfan anemia 13 tests
  • Diamond-Blackfan anemia 103 tests
  • Diamond-Blackfan anemia 111 test
  • Diamond-Blackfan anemia 123 tests
  • Diamond-Blackfan anemia 133 tests
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 163 tests
  • Diamond-Blackfan anemia 173 tests
  • Diamond-Blackfan anemia 182 tests
  • Diamond-Blackfan anemia 192 tests
  • Diamond-Blackfan anemia 202 tests
  • Diamond-Blackfan anemia 33 tests
  • Diamond-Blackfan anemia 43 tests
  • Diamond-Blackfan anemia 53 tests
  • Diamond-Blackfan anemia 63 tests
  • Diamond-Blackfan anemia 73 tests
  • Diamond-Blackfan anemia 83 tests
  • Diamond-Blackfan anemia 93 tests
  • Diamond-Blackfan anemia-like1 test
  • Diaphragmatic hernia 32 tests
  • Diaphyseal dysplasia4 tests
  • Diarrhea 10, protein-losing enteropathy type1 test
  • Diarrhea 91 test
  • Dias-Logan syndrome1 test
  • Diastrophic dysplasia5 tests
  • DICER1-related tumor predisposition6 tests
  • Diets-Jongmans syndrome2 tests
  • Diffuse mesangial sclerosis3 tests
  • Diffuse nonepidermolytic palmoplantar keratoderma1 test
  • DiGeorge syndrome7 tests
  • Dihydropteridine reductase deficiency2 tests
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A6 tests
  • Dilated cardiomyopathy 1AA5 tests
  • Dilated cardiomyopathy 1C6 tests
  • Dilated cardiomyopathy 1CC4 tests
  • Dilated cardiomyopathy 1DD5 tests
  • Dilated cardiomyopathy 1E3 tests
  • Dilated cardiomyopathy 1EE2 tests
  • Dilated cardiomyopathy 1FF2 tests
  • Dilated cardiomyopathy 1G2 tests
  • Dilated cardiomyopathy 1GG6 tests
  • Dilated cardiomyopathy 1HH4 tests
  • Dilated cardiomyopathy 1I5 tests
  • Dilated cardiomyopathy 1II3 tests
  • Dilated cardiomyopathy 1J4 tests
  • Dilated cardiomyopathy 1JJ3 tests
  • Dilated cardiomyopathy 1KK5 tests
  • Dilated cardiomyopathy 1L5 tests
  • Dilated cardiomyopathy 1NN5 tests
  • Dilated cardiomyopathy 1P4 tests
  • Dilated cardiomyopathy 1R3 tests
  • Dilated cardiomyopathy 1S4 tests
  • Dilated cardiomyopathy 1U2 tests
  • Dilated cardiomyopathy 1V2 tests
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X3 tests
  • Dilated cardiomyopathy 1Y3 tests
  • Dilated cardiomyopathy 2A4 tests
  • Dilated cardiomyopathy 2B3 tests
  • Dilated cardiomyopathy 3B5 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome6 tests
  • Disorder of amino acid metabolism1 test
  • Disorder of fatty acid metabolism2 tests
  • Disorder of organic acid metabolism1 test
  • Disorder of the urea cycle metabolism1 test
  • Distal arthrogryposis type 2B12 tests
  • Distal arthrogryposis type 5D3 tests
  • Distal myopathy with anterior tibial onset2 tests
  • Distal myopathy with posterior leg and anterior hand involvement2 tests
  • Distal myopathy, Tateyama type1 test
  • Distichiasis-lymphedema syndrome3 tests
  • DK1-congenital disorder of glycosylation7 tests
  • DNA ligase IV deficiency3 tests
  • DOCK2 deficiency1 test
  • Dominant beta-thalassemia1 test
  • Dominant dystrophic epidermolysis bullosa with absence of skin2 tests
  • Donnai-Barrow syndrome4 tests
  • DOORS syndrome4 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency2 tests
  • Dowling-Degos disease 41 test
  • Down syndrome1 test
  • Doyne honeycomb retinal dystrophy2 tests
  • DPAGT1-congenital disorder of glycosylation2 tests
  • DPM3-congenital disorder of glycosylation3 tests
  • Drash syndrome8 tests
  • Duane retraction syndrome 21 test
  • Duane retraction syndrome 3 with or without deafness3 tests
  • Duane-radial ray syndrome6 tests
  • Dubin-Johnson syndrome2 tests
  • Duchenne muscular dystrophy3 tests
  • Dyggve-Melchior-Clausen syndrome2 tests
  • DYRK1A-related intellectual disability syndrome2 tests
  • Dyskeratosis congenita, autosomal dominant 15 tests
  • Dyskeratosis congenita, autosomal dominant 27 tests
  • Dyskeratosis congenita, autosomal dominant 34 tests
  • Dyskeratosis congenita, autosomal dominant 63 tests
  • Dyskeratosis congenita, autosomal recessive 13 tests
  • Dyskeratosis congenita, autosomal recessive 23 tests
  • Dyskeratosis congenita, autosomal recessive 33 tests
  • Dyskeratosis congenita, autosomal recessive 55 tests
  • Dyskeratosis congenita, autosomal recessive 64 tests
  • Dyskeratosis congenita, X-linked5 tests
  • Dysmorphic features1 test
  • Dystonia 127 tests
  • Dystonia 162 tests
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 53 tests
  • Dystonia 94 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities3 tests
  • Dystonic disorder1 test
  • Early-onset generalized limb-onset dystonia1 test
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • Early-onset Parkinson disease 201 test
  • Early-onset parkinsonism-intellectual disability syndrome3 tests
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1 test
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome3 tests
  • EAST syndrome3 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant2 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive2 tests
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant2 tests
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive2 tests
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1 test
  • Ectodermal dysplasia 4, hair/nail type1 test
  • Ectodermal dysplasia and immune deficiency1 test
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectodermal dysplasia-syndactyly syndrome 11 test
  • Ectopia lentis 1, isolated, autosomal dominant8 tests
  • Ectopia lentis 2, isolated, autosomal recessive2 tests
  • Ectopia lentis et pupillae2 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 36 tests
  • Eculizumab, poor response to1 test
  • EDICT syndrome1 test
  • EEM syndrome2 tests
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
  • Ehlers-Danlos syndrome, arthrochalasia type6 tests
  • Ehlers-Danlos syndrome, arthrochalasia type, 23 tests
  • Ehlers-Danlos syndrome, cardiac valvular type5 tests
  • Ehlers-Danlos syndrome, classic type2 tests
  • Ehlers-Danlos syndrome, classic type, 11 test
  • Ehlers-Danlos syndrome, classic type, 22 tests
  • Ehlers-Danlos syndrome, classic-like, 22 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 13 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 23 tests
  • Ehlers-Danlos syndrome, musculocontractural type2 tests
  • Ehlers-Danlos syndrome, musculocontractural type 12 tests
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, periodontal type 12 tests
  • Ehlers-Danlos syndrome, periodontal type 22 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
  • Ehlers-Danlos syndrome, spondylodysplastic type, 12 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 22 tests
  • Ehlers-Danlos syndrome, type 44 tests
  • Eichsfeld type congenital muscular dystrophy1 test
  • Eiken syndrome2 tests
  • Elevated circulating creatine kinase concentration1 test
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Elliptocytosis 31 test
  • Ellis-van Creveld syndrome8 tests
  • Elsahy-Waters syndrome1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked3 tests
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant3 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive3 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
  • Encephalitis, acute, infection (viral)-induced, susceptibility to, 111 test
  • Encephalitis/encephalopathy, mild, with reversible myelin vacuolization4 tests
  • Encephalocraniocutaneous lipomatosis3 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 22 tests
  • Encephalopathy due to GLUT1 deficiency4 tests
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 71 test
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 83 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 43 tests
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 15 tests
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities1 test
  • Encephalopathy, porphyria-related2 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 12 tests
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome4 tests
  • Endemic goiter4 tests
  • Endocrine-cerebro-osteodysplasia syndrome4 tests
  • Endometrial carcinoma10 tests
  • Enterokinase deficiency1 test
  • Epidermal nevus15 tests
  • Epidermodysplasia verruciformis, susceptibility to, 31 test
  • Epidermodysplasia verruciformis, susceptibility to, 41 test
  • Epidermolysis bullosa dystrophica1 test
  • Epidermolysis bullosa pruriginosa2 tests
  • Epidermolysis bullosa simplex 1A, generalized severe1 test
  • Epidermolysis bullosa simplex 1C, localized2 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive1 test
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency3 tests
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy3 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia3 tests
  • Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss2 tests
  • Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
  • Epidermolysis bullosa simplex due to plakophilin deficiency1 test
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with nail dystrophy3 tests
  • Epidermolysis bullosa simplex, Koebner type1 test
  • Epidermolysis bullosa simplex, Ogna type3 tests
  • Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome3 tests
  • Epidermolytic hyperkeratosis 11 test
  • Epidermolytic hyperkeratosis 2A, autosomal dominant1 test
  • Epidermolytic hyperkeratosis 2B, autosomal recessive1 test
  • Epidermolytic ichthyosis1 test
  • Epidermolytic palmoplantar keratoderma, 11 test
  • Epilepsy3 tests
  • Epilepsy with myoclonic atonic seizures2 tests
  • Epilepsy, childhood absence, susceptibility to, 53 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 123 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 131 test
  • Epilepsy, idiopathic generalized, susceptibility to, 91 test
  • Epilepsy, juvenile myoclonic, susceptibility to, 103 tests
  • Epiphyseal dysplasia, multiple, 25 tests
  • Epiphyseal dysplasia, multiple, 34 tests
  • Epiphyseal dysplasia, multiple, 65 tests
  • Epiphyseal dysplasia, multiple, 74 tests
  • Episodic ataxia type 13 tests
  • Episodic ataxia type 23 tests
  • Episodic ataxia type 51 test
  • Episodic ataxia type 62 tests
  • Episodic ataxia, type 92 tests
  • Episodic kinesigenic dyskinesia 12 tests
  • Episodic pain syndrome, familial, 22 tests
  • Epithelial basement membrane dystrophy1 test
  • ERCC1-Related Xeroderma Pigmentosum1 test
  • Erythrocytosis, familial, 51 test
  • Erythrocytosis, familial, 61 test
  • Erythrokeratoderma, reticular1 test
  • Erythrokeratodermia variabilis et progressiva 12 tests
  • Erythrokeratodermia variabilis et progressiva 21 test
  • Erythrokeratodermia variabilis et progressiva 33 tests
  • Erythroleukemia, familial, susceptibility to1 test
  • Erythropoietic protoporphyria1 test
  • Essential hypertension2 tests
  • Essential hypertension, genetic1 test
  • Essential thrombocythemia1 test
  • Essential tremor1 test
  • Ethylmalonic encephalopathy2 tests
  • Euthyroid goiter6 tests
  • Exercise intolerance, riboflavin-responsive2 tests
  • Exercise-induced hyperinsulinism3 tests
  • Exostoses, multiple, type 12 tests
  • Exostoses, multiple, type 24 tests
  • Exudative vitreoretinopathy 13 tests
  • Exudative vitreoretinopathy 2, X-linked6 tests
  • Exudative vitreoretinopathy 43 tests
  • Exudative vitreoretinopathy 52 tests
  • Exudative vitreoretinopathy 62 tests
  • Exudative vitreoretinopathy 73 tests
  • Fabry disease12 tests
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome5 tests
  • Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1 test
  • Facial paresis, hereditary congenital, 31 test
  • Facioscapulohumeral muscular dystrophy 21 test
  • Facioscapulohumeral muscular dystrophy 4, digenic1 test
  • Factor 5 and Factor VIII, combined deficiency of, 21 test
  • Factor H deficiency2 tests
  • Factor I deficiency1 test
  • Factor V and factor VIII, combined deficiency of, type 12 tests
  • Factor VII deficiency3 tests
  • Factor X deficiency1 test
  • Factor XII deficiency disease1 test
  • Factor XIII, A subunit, deficiency of2 tests
  • Factor XIII, b subunit, deficiency of2 tests
  • FADD-related immunodeficiency3 tests
  • Failure to thrive1 test
  • Familial acute necrotizing encephalopathy1 test
  • Familial adenomatous polyposis 18 tests
  • Familial adenomatous polyposis 25 tests
  • Familial adenomatous polyposis 34 tests
  • Familial adenomatous polyposis 43 tests
  • Familial amyloid nephropathy with urticaria AND deafness3 tests
  • Familial apolipoprotein C-II deficiency1 test
  • Familial atrial myxoma4 tests
  • Familial benign flecked retina1 test
  • Familial cancer of breast20 tests
  • Familial cold autoinflammatory syndrome1 test
  • Familial cold autoinflammatory syndrome 12 tests
  • Familial cold autoinflammatory syndrome 22 tests
  • Familial cold autoinflammatory syndrome 32 tests
  • Familial cold autoinflammatory syndrome 42 tests
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
  • Familial cylindromatosis1 test
  • Familial digital arthropathy-brachydactyly2 tests
  • Familial dysautonomia3 tests
  • Familial dysfibrinogenemia1 test
  • Familial episodic pain syndrome with predominantly lower limb involvement2 tests
  • Familial expansile osteolysis1 test
  • Familial exudative vitreoretinopathy1 test
  • Familial gestational hyperthyroidism1 test
  • Familial hemophagocytic lymphohistiocytosis 25 tests
  • Familial hemophagocytic lymphohistiocytosis 35 tests
  • Familial hemophagocytic lymphohistiocytosis 43 tests
  • Familial hemophagocytic lymphohistiocytosis 54 tests
  • Familial hyperaldosteronism type II1 test
  • Familial hyperaldosteronism type III1 test
  • Familial hypercholesterolemia1 test
  • Familial hyperinsulinism1 test
  • Familial hyperthyroidism due to mutations in TSH receptor1 test
  • Familial hypobetalipoproteinemia 11 test
  • Familial hypobetalipoproteinemia 21 test
  • Familial hypocalciuric hypercalcemia1 test
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypocalciuric hypercalcemia 31 test
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial hypoparathyroidism1 test
  • Familial idiopathic hypercalciuria1 test
  • Familial infantile myasthenia3 tests
  • Familial infantile myoclonic epilepsy4 tests
  • Familial isolated congenital asplenia1 test
  • Familial juvenile hyperuricemic nephropathy type 12 tests
  • Familial juvenile hyperuricemic nephropathy type 21 test
  • Familial Mediterranean fever4 tests
  • Familial Mediterranean fever, autosomal dominant4 tests
  • Familial medullary thyroid carcinoma7 tests
  • Familial meningioma14 tests
  • Familial pancreatic carcinoma7 tests
  • Familial partial lipodystrophy, Dunnigan type2 tests
  • Familial porphyria cutanea tarda1 test
  • Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome1 test
  • Familial prostate cancer6 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial scaphocephaly syndrome, McGillivray type4 tests
  • Familial spontaneous pneumothorax4 tests
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness3 tests
  • Familial temporal lobe epilepsy 71 test
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type2 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi anemia1 test
  • Fanconi anemia complementation group A8 tests
  • Fanconi anemia complementation group B5 tests
  • Fanconi anemia complementation group C6 tests
  • Fanconi anemia complementation group D110 tests
  • Fanconi anemia complementation group D25 tests
  • Fanconi anemia complementation group E4 tests
  • Fanconi anemia complementation group F4 tests
  • Fanconi anemia complementation group G5 tests
  • Fanconi anemia complementation group I4 tests
  • Fanconi anemia complementation group J7 tests
  • Fanconi anemia complementation group L4 tests
  • Fanconi anemia complementation group N10 tests
  • Fanconi anemia complementation group O5 tests
  • Fanconi anemia complementation group P4 tests
  • Fanconi anemia complementation group Q6 tests
  • Fanconi anemia complementation group R2 tests
  • Fanconi anemia complementation group T3 tests
  • Fanconi anemia complementation group U4 tests
  • Fanconi anemia complementation group V3 tests
  • Fanconi anemia, complementation group M1 test
  • Fanconi anemia, complementation group S5 tests
  • Fanconi anemia, complementation group W3 tests
  • Fanconi renotubular syndrome 12 tests
  • Fanconi renotubular syndrome 21 test
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
  • Fanconi renotubular syndrome 51 test
  • Fanconi-Bickel syndrome6 tests
  • Farber lipogranulomatosis4 tests
  • Fatal infantile hypertonic myofibrillar myopathy2 tests
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 34 tests
  • Fatty acyl-CoA reductase 1 deficiency1 test
  • Febrile seizures, familial, 41 test
  • Feeding difficulties1 test
  • Feingold syndrome1 test
  • Feingold syndrome type 13 tests
  • Feingold syndrome type 23 tests
  • Female infertility due to zona pellucida defect1 test
  • Fetal akinesia deformation sequence 12 tests
  • Fetal akinesia deformation sequence 21 test
  • Fetal akinesia deformation sequence 31 test
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
  • Fetal hemoglobin quantitative trait locus 11 test
  • FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 62 tests
  • FG syndrome7 tests
  • FG syndrome 210 tests
  • FG syndrome 42 tests
  • Fibrochondrogenesis1 test
  • Fibrochondrogenesis 14 tests
  • Fibrochondrogenesis 27 tests
  • Fibromatosis, gingival, 15 tests
  • Fibromatosis, gingival, 53 tests
  • Fibromuscular dysplasia, multifocal1 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement2 tests
  • Fibrosis of extraocular muscles, congenital, 52 tests
  • Fibrous dysplasia of jaw1 test
  • Filippi syndrome1 test
  • Finnish congenital nephrotic syndrome1 test
  • Finnish type amyloidosis3 tests
  • Fish-eye disease1 test
  • Fleck corneal dystrophy2 tests
  • Floating-Harbor syndrome4 tests
  • Focal dermal hypoplasia3 tests
  • Focal facial dermal dysplasia type III1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 22 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to1 test
  • Focal segmental glomerulosclerosis 4, susceptibility to2 tests
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 74 tests
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 92 tests
  • Follicular thyroid carcinoma3 tests
  • Fontaine progeroid syndrome1 test
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome3 tests
  • Foveal hypoplasia 16 tests
  • Fowler syndrome1 test
  • FOXG1 disorder3 tests
  • Fragile X syndrome2 tests
  • Fragile X-associated tremor/ataxia syndrome2 tests
  • Frank-Ter Haar syndrome3 tests
  • Fraser syndrome 17 tests
  • Fraser syndrome 210 tests
  • Fraser syndrome 36 tests
  • Frasier syndrome8 tests
  • Freeman-Sheldon syndrome5 tests
  • Friedreich ataxia 11 test
  • Frontometaphyseal dysplasia1 test
  • Frontometaphyseal dysplasia 17 tests
  • Frontonasal dysplasia1 test
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
  • Frontonasal dysplasia with alopecia and genital anomaly1 test
  • Frontotemporal dementia6 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 26 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 35 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 46 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 63 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 74 tests
  • Frontotemporal dementia with motor neuron disease3 tests
  • Fructose-biphosphatase deficiency2 tests
  • Fucosidosis2 tests
  • Fuhrmann syndrome2 tests
  • Fumarase deficiency9 tests
  • Gabriele de Vries syndrome1 test
  • Galactosylceramide beta-galactosidase deficiency6 tests
  • Gallbladder disease 41 test
  • Galloway-Mowat syndrome1 test
  • Galloway-Mowat syndrome 11 test
  • Galloway-Mowat syndrome 2, X-linked1 test
  • Galloway-Mowat syndrome 32 tests
  • Galloway-Mowat syndrome 41 test
  • Galloway-Mowat syndrome 51 test
  • Galloway-Mowat syndrome 61 test
  • Galloway-Mowat syndrome 71 test
  • Galloway-Mowat syndrome 81 test
  • Gamma-glutamylcysteine synthetase deficiency1 test
  • Gastric adenocarcinoma and proximal polyposis of the stomach7 tests
  • Gastric cancer11 tests
  • Gastrointestinal defect and immunodeficiency syndrome2 tests
  • Gastrointestinal defects and immunodeficiency syndrome 11 test
  • Gastrointestinal stromal tumor7 tests
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis2 tests
  • Gaucher disease due to saposin C deficiency1 test
  • Gaucher disease perinatal lethal4 tests
  • Gaucher disease type I5 tests
  • Gaucher disease type II5 tests
  • Gaucher disease type III5 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome5 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 12 tests
  • Gelatinous droplike corneal dystrophy1 test
  • Geleophysic dysplasia 12 tests
  • Geleophysic dysplasia 29 tests
  • Geleophysic dysplasia 32 tests
  • Generalized dominant dystrophic epidermolysis bullosa2 tests
  • Generalized epilepsy with febrile seizures plus, type 101 test
  • Generalized epilepsy with febrile seizures plus, type 24 tests
  • Generalized juvenile polyposis/juvenile polyposis coli2 tests
  • Generalized neonatal hypotonia1 test
  • Generalized pustular psoriasis1 test
  • Genitopatellar syndrome2 tests
  • Genitourinary and/or brain malformation syndrome1 test
  • Germ cell tumor of testis7 tests
  • Geroderma osteodysplastica1 test
  • Ghosal hematodiaphyseal dysplasia1 test
  • Giant axonal neuropathy 13 tests
  • Giant axonal neuropathy 21 test
  • Gilbert syndrome3 tests
  • Gillespie syndrome2 tests
  • Gillessen-Kaesbach-Nishimura syndrome4 tests
  • Glanzmann thrombasthenia4 tests
  • Glanzmann thrombasthenia 11 test
  • Glaucoma1 test
  • Glaucoma 1, open angle, A3 tests
  • Glaucoma 1, open angle, G2 tests
  • Glaucoma 1, open angle, O1 test
  • Glaucoma 3, primary congenital, D4 tests
  • Glaucoma 3, primary congenital, E1 test
  • Glaucoma 3A2 tests
  • Glaucoma, normal tension, susceptibility to6 tests
  • Glioma susceptibility 19 tests
  • Glioma susceptibility 28 tests
  • Glioma susceptibility 37 tests
  • Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome6 tests
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency 41 test
  • Glucocorticoid deficiency 54 tests
  • Glucocorticoid deficiency with achalasia1 test
  • Glucocorticoid resistance3 tests
  • Glucose-6-phosphate transport defect6 tests
  • Glutamate formiminotransferase deficiency1 test
  • Glutaric aciduria, type 15 tests
  • Glutathione synthetase deficiency with 5-oxoprolinuria2 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria2 tests
  • Gluthathione peroxidase deficiency1 test
  • Glycine encephalopathy2 tests
  • Glycine N-methyltransferase deficiency2 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency4 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency4 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency4 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency6 tests
  • Glycogen storage disease IXa12 tests
  • Glycogen storage disease IXb4 tests
  • Glycogen storage disease IXc2 tests
  • Glycogen storage disease IXd4 tests
  • Glycogen storage disease type III6 tests
  • Glycogen storage disease type X4 tests
  • Glycogen storage disease XV4 tests
  • Glycogen storage disease, type II11 tests
  • Glycogen storage disease, type IV8 tests
  • Glycogen storage disease, type V4 tests
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII5 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
  • Glycosylphosphatidylinositol biosynthesis defect 152 tests
  • GM1 gangliosidosis type 22 tests
  • GM1 gangliosidosis type 32 tests
  • Gnb5-related intellectual disability-cardiac arrhythmia syndrome2 tests
  • GNE myopathy4 tests
  • GNPTG-mucolipidosis2 tests
  • Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy1 test
  • Gonadotropin-independent familial sexual precocity3 tests
  • Gordon syndrome2 tests
  • Gorlin syndrome4 tests
  • GRACILE syndrome2 tests
  • Graft-versus-host disease, susceptibility to2 tests
  • Grange syndrome2 tests
  • Granulocytopenia with immunoglobulin abnormality2 tests
  • Granulomatous disease, chronic, autosomal recessive, 51 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 22 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 32 tests
  • Granulomatous disease, chronic, X-linked3 tests
  • Gray platelet syndrome2 tests
  • Grebe syndrome2 tests
  • Greenberg dysplasia5 tests
  • Greig cephalopolysyndactyly syndrome7 tests
  • Griscelli syndrome type 12 tests
  • Griscelli syndrome type 26 tests
  • Griscelli syndrome type 32 tests
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions5 tests
  • Groenouw corneal dystrophy type I1 test
  • Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1 test
  • Growth delay due to insulin-like growth factor I resistance2 tests
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • GTP cyclohydrolase I deficiency1 test
  • Guttmacher syndrome6 tests
  • H syndrome2 tests
  • Haim-Munk syndrome3 tests
  • Hajdu-Cheney syndrome6 tests
  • Hand-foot-genital syndrome4 tests
  • Hartsfield-Bixler-Demyer syndrome8 tests
  • Hashimoto thyroiditis3 tests
  • Hawkinsinuria1 test
  • Hb SS disease2 tests
  • Hearing loss, autosomal dominant 34, with or without inflammation2 tests
  • Hearing loss, autosomal dominant 372 tests
  • Hearing loss, autosomal dominant 712 tests
  • Hearing loss, autosomal dominant 721 test
  • Hearing loss, autosomal dominant 731 test
  • Hearing loss, autosomal dominant 741 test
  • Hearing loss, autosomal dominant 841 test
  • Hearing loss, autosomal dominant 851 test
  • Hearing loss, autosomal dominant 871 test
  • Hearing loss, autosomal recessive 1061 test
  • Hearing loss, autosomal recessive 1071 test
  • Hearing loss, autosomal recessive 1081 test
  • Hearing loss, autosomal recessive 1101 test
  • Hearing loss, autosomal recessive 1111 test
  • Hearing loss, autosomal recessive 1121 test
  • Hearing loss, autosomal recessive 1151 test
  • Hearing loss, autosomal recessive 1171 test
  • Hearing loss, autosomal recessive 1201 test
  • Hearing loss, autosomal recessive 1211 test
  • Hearing loss, autosomal recessive 1221 test
  • Hearing loss, autosomal recessive 571 test
  • Hearing loss, autosomal recessive 942 tests
  • Hearing loss, X-linked 11 test
  • Hearing loss, X-linked 42 tests
  • Hearing loss, X-linked 63 tests
  • Heart, malformation of2 tests
  • Heart-hand syndrome, Slovenian type2 tests
  • Hecht syndrome1 test
  • Heimler syndrome 17 tests
  • Heimler syndrome 25 tests
  • Heinz body anemia2 tests
  • Helicobacter pylori infection, susceptibility to1 test
  • HELIX syndrome1 test
  • Hematologic neoplasm1 test
  • Heme oxygenase 1 deficiency1 test
  • Hemifacial myohyperplasia1 test
  • Hemochromatosis type 15 tests
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemochromatosis type 51 test
  • Hemoglobin H disease3 tests
  • Hemolytic anemia due to adenylate kinase deficiency1 test
  • Hemolytic anemia due to erythrocyte adenosine deaminase overproduction2 tests
  • Hemolytic anemia due to glucophosphate isomerase deficiency1 test
  • Hemolytic anemia due to glutathione reductase deficiency1 test
  • Hemolytic anemia due to hexokinase deficiency2 tests
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 12 tests
  • Hemorrhage, intracerebral, susceptibility to4 tests
  • Hennekam lymphangiectasia-lymphedema syndrome1 test
  • Hennekam lymphangiectasia-lymphedema syndrome 14 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 24 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 32 tests
  • Heparin cofactor II deficiency1 test
  • Hepatic adenomas, familial1 test
  • Hepatic methionine adenosyltransferase deficiency2 tests
  • Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
  • Hepatitis B virus, susceptibility to3 tests
  • Hepatitis C virus, susceptibility to1 test
  • Hepatocellular carcinoma11 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12 tests
  • Hepatomegaly1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 12 tests
  • Hereditary antithrombin deficiency2 tests
  • Hereditary arterial and articular multiple calcification syndrome1 test
  • Hereditary breast ovarian cancer syndrome1 test
  • Hereditary cancer-predisposing syndrome1 test
  • Hereditary cerebral amyloid angiopathy, Icelandic type2 tests
  • Hereditary coproporphyria1 test
  • Hereditary cryohydrocytosis with reduced stomatin3 tests
  • Hereditary diffuse gastric adenocarcinoma11 tests
  • Hereditary diffuse leukoencephalopathy with spheroids3 tests
  • Hereditary disease9 tests
  • Hereditary factor I deficiency disease1 test
  • Hereditary factor IX deficiency disease2 tests
  • Hereditary factor VIII deficiency disease3 tests
  • Hereditary factor X deficiency disease1 test
  • Hereditary factor XI deficiency disease2 tests
  • Hereditary fructosuria3 tests
  • Hereditary glaucoma, primary closed-angle1 test
  • Hereditary hearing loss and deafness2 tests
  • Hereditary hemorrhagic telangiectasia1 test
  • Hereditary hypercarotenemia and vitamin A deficiency2 tests
  • Hereditary hyperferritinemia with congenital cataracts2 tests
  • Hereditary insensitivity to pain with anhidrosis2 tests
  • Hereditary intrinsic factor deficiency1 test
  • Hereditary leiomyomatosis and renal cell cancer8 tests
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I2 tests
  • Hereditary motor and sensory neuropathy with optic atrophy3 tests
  • Hereditary motor and sensory neuropathy, Okinawa type4 tests
  • Hereditary mucoepithelial dysplasia1 test
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency3 tests
  • Hereditary neutrophilia3 tests
  • Hereditary pancreatitis7 tests
  • Hereditary sensory and autonomic neuropathy type 11 test
  • Hereditary sensory and autonomic neuropathy type 63 tests
  • Hereditary sensory and autonomic neuropathy type 72 tests
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia2 tests
  • Hereditary sensory neuropathy-deafness-dementia syndrome3 tests
  • Hereditary spastic paraplegia 105 tests
  • Hereditary spastic paraplegia 114 tests
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 133 tests
  • Hereditary spastic paraplegia 152 tests
  • Hereditary spastic paraplegia 173 tests
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 22 tests
  • Hereditary spastic paraplegia 232 tests
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 281 test
  • Hereditary spastic paraplegia 302 tests
  • Hereditary spastic paraplegia 312 tests
  • Hereditary spastic paraplegia 331 test
  • Hereditary spastic paraplegia 353 tests
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 3A1 test
  • Hereditary spastic paraplegia 42 tests
  • Hereditary spastic paraplegia 422 tests
  • Hereditary spastic paraplegia 433 tests
  • Hereditary spastic paraplegia 441 test
  • Hereditary spastic paraplegia 451 test
  • Hereditary spastic paraplegia 461 test
  • Hereditary spastic paraplegia 471 test
  • Hereditary spastic paraplegia 481 test
  • Hereditary spastic paraplegia 492 tests
  • Hereditary spastic paraplegia 502 tests
  • Hereditary spastic paraplegia 511 test
  • Hereditary spastic paraplegia 521 test
  • Hereditary spastic paraplegia 531 test
  • Hereditary spastic paraplegia 542 tests
  • Hereditary spastic paraplegia 552 tests
  • Hereditary spastic paraplegia 562 tests
  • Hereditary spastic paraplegia 573 tests
  • Hereditary spastic paraplegia 5A4 tests
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 611 test
  • Hereditary spastic paraplegia 621 test
  • Hereditary spastic paraplegia 631 test
  • Hereditary spastic paraplegia 641 test
  • Hereditary spastic paraplegia 75 tests
  • Hereditary spastic paraplegia 721 test
  • Hereditary spastic paraplegia 731 test
  • Hereditary spastic paraplegia 743 tests
  • Hereditary spastic paraplegia 752 tests
  • Hereditary spastic paraplegia 772 tests
  • Hereditary spastic paraplegia 82 tests
  • Hereditary spherocytosis type 11 test
  • Hereditary spherocytosis type 21 test
  • Hereditary spherocytosis type 31 test
  • Hereditary spherocytosis type 41 test
  • Hereditary spherocytosis type 51 test
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX16 tests
  • Hereditary xanthinuria type 11 test
  • Hermansky-Pudlak syndrome 17 tests
  • Hermansky-Pudlak syndrome 106 tests
  • Hermansky-Pudlak syndrome 111 test
  • Hermansky-Pudlak syndrome 210 tests
  • Hermansky-Pudlak syndrome 36 tests
  • Hermansky-Pudlak syndrome 47 tests
  • Hermansky-Pudlak syndrome 56 tests
  • Hermansky-Pudlak syndrome 67 tests
  • Hermansky-Pudlak syndrome 77 tests
  • Hermansky-Pudlak syndrome 87 tests
  • Hermansky-Pudlak syndrome 98 tests
  • Hernia, anterior diaphragmatic1 test
  • Heterotaxy, visceral, 1, X-linked5 tests
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal3 tests
  • Heterotaxy, visceral, 5, autosomal3 tests
  • Heterotaxy, visceral, 6, autosomal3 tests
  • Heterotaxy, visceral, 7, autosomal2 tests
  • Heterotaxy, visceral, 8, autosomal4 tests
  • Heterotopia, periventricular, X-linked dominant8 tests
  • Heyn-Sproul-Jackson syndrome3 tests
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • High myopia-sensorineural deafness syndrome2 tests
  • Hip dysplasia, Beukes type1 test
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction2 tests
  • Hirschsprung disease, susceptibility to, 17 tests
  • Hirschsprung disease, susceptibility to, 24 tests
  • Hirschsprung disease, susceptibility to, 32 tests
  • Hirschsprung disease, susceptibility to, 45 tests
  • Histiocytic medullary reticulosis2 tests
  • HNSHA due to aldolase A deficiency4 tests
  • Hogue-Janssens syndrome 13 tests
  • Holocarboxylase synthetase deficiency4 tests
  • Holoprosencephaly 112 tests
  • Holoprosencephaly 12 with or without pancreatic agenesis1 test
  • Holoprosencephaly 13, X-linked1 test
  • Holoprosencephaly 22 tests
  • Holoprosencephaly 36 tests
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 52 tests
  • Holoprosencephaly 79 tests
  • Holoprosencephaly 95 tests
  • Holoprosencephaly sequence1 test
  • Holt-Oram syndrome7 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency6 tests
  • Hoyeraal-Hreidarsson syndrome1 test
  • HSD10 mitochondrial disease5 tests
  • Human HOXA1 syndromes2 tests
  • Humerofemoral hypoplasia with radiotibial ray deficiency1 test
  • Huntington disease1 test
  • Huppke-Brendel syndrome3 tests
  • Hurler syndrome2 tests
  • Hurthle cell carcinoma of thyroid1 test
  • Hutchinson-Gilford syndrome2 tests
  • Hydrocephalus, congenital communicating, 11 test
  • Hydrocephalus, congenital, 3, with brain anomalies1 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 11 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 23 tests
  • Hydrolethalus syndrome 22 tests
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2 tests
  • Hydroxykynureninuria2 tests
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant7 tests
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive1 test
  • Hyper-IgE recurrent infection syndrome 4, autosomal recessive1 test
  • Hyper-IgE recurrent infection syndrome 4A, autosomal dominant1 test
  • Hyper-IgE recurrent infection syndrome 5, autosomal recessive1 test
  • Hyper-IgM syndrome type 13 tests
  • Hyper-IgM syndrome type 23 tests
  • Hyper-IgM syndrome type 31 test
  • Hyper-IgM syndrome type 52 tests
  • Hyperaldosteronism, familial, type IV1 test
  • Hyperammonemia2 tests
  • Hyperammonemia, type III2 tests
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency3 tests
  • Hypercalcemia, infantile, 11 test
  • Hypercholanemia, familial2 tests
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B2 tests
  • Hypercholesterolemia, familial, 11 test
  • Hypercholesterolemia, familial, 41 test
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1 test
  • Hyperimmunoglobulin D with periodic fever6 tests
  • Hyperinsulinemic hypoglycemia, familial, 15 tests
  • Hyperinsulinemic hypoglycemia, familial, 24 tests
  • Hyperinsulinemic hypoglycemia, familial, 45 tests
  • Hyperinsulinism due to glucokinase deficiency3 tests
  • Hyperinsulinism due to INSR deficiency2 tests
  • Hyperinsulinism-hyperammonemia syndrome5 tests
  • Hyperkalemic periodic paralysis4 tests
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia type IV1 test
  • Hyperlipoproteinemia, type 1D1 test
  • Hyperlipoproteinemia, type I1 test
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase5 tests
  • Hyperornithinemia2 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome3 tests
  • Hyperparathyroidism 14 tests
  • Hyperparathyroidism 2 with jaw tumors4 tests
  • Hyperphenylalaninemia due to DNAJC12 deficiency2 tests
  • Hyperphosphatasemia tarda1 test
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with intellectual disability syndrome 11 test
  • Hyperpigmentation with or without hypopigmentation, familial progressive1 test
  • Hyperproinsulinemia1 test
  • Hyperprolactinemia1 test
  • Hyperthyroxinemia, dystransthyretinemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertrophic cardiomyopathy 17 tests
  • Hypertrophic cardiomyopathy 104 tests
  • Hypertrophic cardiomyopathy 112 tests
  • Hypertrophic cardiomyopathy 124 tests
  • Hypertrophic cardiomyopathy 134 tests
  • Hypertrophic cardiomyopathy 145 tests
  • Hypertrophic cardiomyopathy 153 tests
  • Hypertrophic cardiomyopathy 163 tests
  • Hypertrophic cardiomyopathy 173 tests
  • Hypertrophic cardiomyopathy 186 tests
  • Hypertrophic cardiomyopathy 191 test
  • Hypertrophic cardiomyopathy 24 tests
  • Hypertrophic cardiomyopathy 203 tests
  • Hypertrophic cardiomyopathy 255 tests
  • Hypertrophic cardiomyopathy 266 tests
  • Hypertrophic cardiomyopathy 32 tests
  • Hypertrophic cardiomyopathy 45 tests
  • Hypertrophic cardiomyopathy 65 tests
  • Hypertrophic cardiomyopathy 75 tests
  • Hypertrophic cardiomyopathy 83 tests
  • Hypertrophic cardiomyopathy 95 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome2 tests
  • Hyperuricemic nephropathy, familial juvenile type 42 tests
  • Hyperzincemia and hypercalprotectinemia1 test
  • Hypoalphalipoproteinemia, primary, 12 tests
  • Hypoalphalipoproteinemia, primary, 22 tests
  • Hypoalphalipoproteinemia, primary, 2, intermediate1 test
  • Hypochondroplasia10 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia8 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 14 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 15 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 16 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 17 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 18 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 19 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 2 with or without anosmia11 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 21 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 22 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 24 without anosmia4 tests
  • Hypogonadotropic hypogonadism 3 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia17 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia10 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia8 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia5 tests
  • Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome1 test
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy4 tests
  • Hypokalemic periodic paralysis, type 12 tests
  • Hypokalemic periodic paralysis, type 23 tests
  • Hypomagnesemia 7, renal, with or without dilated cardiomyopathy1 test
  • Hypomagnesemia, seizures, and intellectual disability 22 tests
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
  • Hypomyelinating leukodystrophy 101 test
  • Hypomyelinating leukodystrophy 112 tests
  • Hypomyelinating leukodystrophy 121 test
  • Hypomyelinating leukodystrophy 131 test
  • Hypomyelinating leukodystrophy 22 tests
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 43 tests
  • Hypomyelinating leukodystrophy 62 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism4 tests
  • Hypomyelinating leukodystrophy 92 tests
  • Hypomyelination and Congenital Cataract2 tests
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity2 tests
  • Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome2 tests
  • Hypoparathyroidism, deafness, renal disease syndrome3 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 12 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 22 tests
  • Hypophosphatemic rickets, autosomal recessive, 11 test
  • Hypophosphatemic rickets, autosomal recessive, 22 tests
  • Hypophosphatemic rickets, X-linked recessive2 tests
  • Hypopigmentation, organomegaly, and delayed myelination and development1 test
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome2 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome2 tests
  • Hypoplastic left heart syndrome 13 tests
  • Hypoplastic left heart syndrome 23 tests
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome5 tests
  • Hypoproteinemia, hypercatabolic1 test
  • Hypospadias 1, X-linked2 tests
  • Hypospadias 2, X-linked4 tests
  • Hypospadias 3, autosomal2 tests
  • Hypothalamic hypothyroidism1 test
  • Hypothyroidism due to TSH receptor mutations1 test
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypothyroidism, congenital, nongoitrous, 52 tests
  • Hypotonia with lactic acidemia and hyperammonemia3 tests
  • Hypotonia, ataxia, and delayed development syndrome2 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
  • Hypotrichosis 21 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
  • Hypouricemia, renal, 22 tests
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis hystrix gravior1 test
  • Ichthyosis hystrix of Curth-Macklin1 test
  • Ichthyosis linearis circumflexa1 test
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis vulgaris1 test
  • Ichthyosis, annular epidermolytic 11 test
  • Ichthyosis, annular epidermolytic, 21 test
  • Ichthyosis, congenital, autosomal recessive 121 test
  • Ichthyosis, congenital, autosomal recessive 131 test
  • Ichthyosis, congenital, autosomal recessive 141 test
  • Ichthyosis, hystrix-like, with hearing loss3 tests
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features1 test
  • Idiopathic basal ganglia calcification 12 tests
  • Idiopathic hypereosinophilic syndrome3 tests
  • Idiopathic Pulmonary Fibrosis2 tests
  • IFAP syndrome2 tests
  • IFAP syndrome 1, with or without BRESHECK syndrome2 tests
  • IFAP syndrome 21 test
  • IL21-related infantile inflammatory bowel disease2 tests
  • Imagawa-Matsumoto syndrome1 test
  • IMAGe syndrome11 tests
  • Imerslund-Grasbeck syndrome2 tests
  • Immunodeficiency 101 (varicella zoster virus-specific)1 test
  • Immunodeficiency 1021 test
  • Immunodeficiency 1041 test
  • Immunodeficiency 1051 test
  • Immunodeficiency 106, susceptibility to viral infections1 test
  • Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection1 test
  • Immunodeficiency 109 with lymphoproliferation1 test
  • Immunodeficiency 1121 test
  • Immunodeficiency 115 with autoinflammation1 test
  • Immunodeficiency 11b with atopic dermatitis4 tests
  • Immunodeficiency 1202 tests
  • Immunodeficiency 143 tests
  • Immunodeficiency 14b, autosomal recessive1 test
  • Immunodeficiency 15a2 tests
  • Immunodeficiency 181 test
  • Immunodeficiency 191 test
  • Immunodeficiency 233 tests
  • Immunodeficiency 251 test
  • Immunodeficiency 27A1 test
  • Immunodeficiency 283 tests
  • Immunodeficiency 31B3 tests
  • Immunodeficiency 32B1 test
  • Immunodeficiency 333 tests
  • Immunodeficiency 36 with lymphoproliferation5 tests
  • Immunodeficiency 372 tests
  • Immunodeficiency 391 test
  • Immunodeficiency 451 test
  • Immunodeficiency 474 tests
  • Immunodeficiency 491 test
  • Immunodeficiency 511 test
  • Immunodeficiency 531 test
  • Immunodeficiency 573 tests
  • Immunodeficiency 601 test
  • Immunodeficiency 611 test
  • Immunodeficiency 621 test
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity1 test
  • Immunodeficiency 641 test
  • Immunodeficiency 65, susceptibility to viral infections1 test
  • Immunodeficiency 663 tests
  • Immunodeficiency 671 test
  • Immunodeficiency 691 test
  • Immunodeficiency 72 with autoinflammation2 tests
  • Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia4 tests
  • Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia4 tests
  • Immunodeficiency 752 tests
  • Immunodeficiency 761 test
  • Immunodeficiency 78 with autoimmunity and developmental delay1 test
  • Immunodeficiency 80 with or without congenital cardiomyopathy1 test
  • Immunodeficiency 82 with systemic inflammation1 test
  • Immunodeficiency 83, susceptibility to viral infections1 test
  • Immunodeficiency 841 test
  • Immunodeficiency 861 test
  • Immunodeficiency 87 and autoimmunity1 test
  • Immunodeficiency 881 test
  • Immunodeficiency 91 and hyperinflammation1 test
  • Immunodeficiency 921 test
  • Immunodeficiency 93 and hypertrophic cardiomyopathy1 test
  • Immunodeficiency 94 with autoinflammation and dysmorphic facies1 test
  • Immunodeficiency 952 tests
  • Immunodeficiency 961 test
  • Immunodeficiency 97 with autoinflammation1 test
  • Immunodeficiency due to CD25 deficiency4 tests
  • Immunodeficiency due to ficolin3 deficiency1 test
  • Immunodeficiency due to MASP-2 deficiency2 tests
  • Immunodeficiency, common variable, 12 tests
  • Immunodeficiency, common variable, 103 tests
  • Immunodeficiency, common variable, 121 test
  • Immunodeficiency, common variable, 141 test
  • Immunodeficiency, common variable, 151 test
  • Immunodeficiency, common variable, 21 test
  • Immunodeficiency, common variable, 32 tests
  • Immunodeficiency, common variable, 42 tests
  • Immunodeficiency, common variable, 52 tests
  • Immunodeficiency, common variable, 62 tests
  • Immunodeficiency, common variable, 72 tests
  • Immunodeficiency, developmental delay, and hypohomocysteinemia1 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 22 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
  • Immunoglobulin A deficiency 21 test
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities1 test
  • Inborn carbohydrate metabolic disorder1 test
  • Inborn disorder of neurotransmitter metabolism and transport1 test
  • Inborn errors of metabolism1 test
  • Inborn glycerol kinase deficiency1 test
  • Inborn mitochondrial myopathy3 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 15 tests
  • Incontinentia pigmenti syndrome4 tests
  • Infantile cerebellar-retinal degeneration2 tests
  • Infantile convulsions and choreoathetosis3 tests
  • Infantile cortical hyperostosis6 tests
  • Infantile GM1 gangliosidosis3 tests
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1 test
  • Infantile hypophosphatasia5 tests
  • Infantile liver failure syndrome 24 tests
  • Infantile myofibromatosis1 test
  • Infantile nephronophthisis3 tests
  • Infantile neuroaxonal dystrophy1 test
  • Infantile onset spinocerebellar ataxia9 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infantile-onset X-linked spinal muscular atrophy2 tests
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Infertility due to oligospermia1 test
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 171 test
  • Inflammatory bowel disease 252 tests
  • Inflammatory bowel disease 282 tests
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy2 tests
  • Inflammatory skin and bowel disease, neonatal, 12 tests
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Inherited obesity1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome4 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder 611 test
  • Intellectual developmental disorder 621 test
  • Intellectual developmental disorder with autism and macrocephaly3 tests
  • Intellectual developmental disorder with autism and speech delay1 test
  • Intellectual developmental disorder with autistic features and language delay, with or without seizures1 test
  • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures2 tests
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies1 test
  • Intellectual developmental disorder with dysmorphic facies and ptosis1 test
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1 test
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies1 test
  • Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism5 tests
  • Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies1 test
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
  • Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1 test
  • Intellectual developmental disorder, autosomal dominant 63, with macrocephaly2 tests
  • Intellectual developmental disorder, autosomal recessive 811 test
  • Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type1 test
  • Intellectual disability2 tests
  • Intellectual disability, autosomal dominant 11 test
  • Intellectual disability, autosomal dominant 132 tests
  • Intellectual disability, autosomal dominant 145 tests
  • Intellectual disability, autosomal dominant 157 tests
  • Intellectual disability, autosomal dominant 1610 tests
  • Intellectual disability, autosomal dominant 221 test
  • Intellectual disability, autosomal dominant 242 tests
  • Intellectual disability, autosomal dominant 294 tests
  • Intellectual disability, autosomal dominant 302 tests
  • Intellectual disability, autosomal dominant 392 tests
  • Intellectual disability, autosomal dominant 402 tests
  • Intellectual disability, autosomal dominant 412 tests
  • Intellectual disability, autosomal dominant 431 test
  • Intellectual disability, autosomal dominant 451 test
  • Intellectual disability, autosomal dominant 471 test
  • Intellectual disability, autosomal dominant 52 tests
  • Intellectual disability, autosomal dominant 502 tests
  • Intellectual disability, autosomal dominant 511 test
  • Intellectual disability, autosomal dominant 522 tests
  • Intellectual disability, autosomal dominant 571 test
  • Intellectual disability, autosomal dominant 62 tests
  • Intellectual disability, autosomal dominant 91 test
  • Intellectual disability, autosomal recessive 31 test
  • Intellectual disability, autosomal recessive 461 test
  • Intellectual disability, autosomal recessive 471 test
  • Intellectual disability, autosomal recessive 571 test
  • Intellectual disability, autosomal recessive 651 test
  • Intellectual disability, autosomal recessive 71 test
  • Intellectual disability, X-linked 12 tests
  • Intellectual disability, X-linked 1023 tests
  • Intellectual disability, X-linked 1061 test
  • Intellectual disability, X-linked 191 test
  • Intellectual disability, X-linked 491 test
  • Intellectual disability, X-linked 611 test
  • Intellectual disability, X-linked 722 tests
  • Intellectual disability, X-linked 931 test
  • Intellectual disability, X-linked 991 test
  • Intellectual disability, X-linked 99, syndromic, female-restricted1 test
  • Intellectual disability, X-linked syndromic, Turner type2 tests
  • Intellectual disability, X-linked, syndromic 331 test
  • Intellectual disability, X-linked, syndromic, Bain type1 test
  • Intellectual disability, X-linked, with or without seizures, ARX-related2 tests
  • Intellectual disability, X-linked, with panhypopituitarism3 tests
  • Intellectual disability-epilepsy-extrapyramidal syndrome2 tests
  • Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency4 tests
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1 test
  • Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome4 tests
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome4 tests
  • Interleukin 6, serum level of, quantitative trait locus1 test
  • Interstitial lung disease due to ABCA3 deficiency3 tests
  • Intervertebral disc disorder4 tests
  • Intestinal hypomagnesemia 12 tests
  • Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency1 test
  • Intestinal pseudo-obstruction1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked6 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency5 tests
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect1 test
  • Irido-corneo-trabecular dysgenesis5 tests
  • Iron-refractory iron deficiency anemia1 test
  • Ischemic stroke1 test
  • Islet cell adenomatosis2 tests
  • Isolated cryptophthalmia4 tests
  • Isolated focal cortical dysplasia type II7 tests
  • Isolated growth hormone deficiency type IB1 test
  • Isolated lutropin deficiency3 tests
  • Isolated microphthalmia 22 tests
  • Isolated microphthalmia 32 tests
  • Isolated microphthalmia 42 tests
  • Isolated microphthalmia 54 tests
  • Isolated microphthalmia 62 tests
  • Isolated microphthalmia 73 tests
  • Isolated microphthalmia 83 tests
  • Isolated neonatal sclerosing cholangitis2 tests
  • Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
  • Isolated optic nerve hypoplasia6 tests
  • Isolated thyroid-stimulating hormone deficiency1 test
  • Isovaleryl-CoA dehydrogenase deficiency4 tests
  • Jaberi-Elahi syndrome1 test
  • Jackson-Weiss syndrome9 tests
  • Jawad syndrome1 test
  • Jervell and Lange-Nielsen syndrome 12 tests
  • Jervell and Lange-Nielsen syndrome 22 tests
  • Johanson-Blizzard syndrome5 tests
  • Joint laxity, short stature, and myopia2 tests
  • Joubert syndrome3 tests
  • Joubert syndrome 11 test
  • Joubert syndrome 105 tests
  • JOUBERT SYNDROME 12/15, DIGENIC1 test
  • Joubert syndrome 132 tests
  • Joubert syndrome 141 test
  • Joubert syndrome 154 tests
  • Joubert syndrome 162 tests
  • Joubert syndrome 172 tests
  • Joubert syndrome 183 tests
  • Joubert syndrome 191 test
  • Joubert syndrome 23 tests
  • Joubert syndrome 201 test
  • Joubert syndrome 212 tests
  • Joubert syndrome 222 tests
  • Joubert syndrome 234 tests
  • Joubert syndrome 241 test
  • Joubert syndrome 252 tests
  • Joubert syndrome 261 test
  • Joubert syndrome 272 tests
  • Joubert syndrome 282 tests
  • Joubert syndrome 32 tests
  • Joubert syndrome 302 tests
  • Joubert syndrome 313 tests
  • Joubert syndrome 326 tests
  • Joubert syndrome 331 test
  • Joubert syndrome 401 test
  • Joubert syndrome 54 tests
  • Joubert syndrome 62 tests
  • Joubert syndrome 75 tests
  • Joubert syndrome 82 tests
  • Joubert syndrome 96 tests
  • Joubert syndrome with renal defect3 tests
  • Juberg-Hayward syndrome1 test
  • Juberg-Marsidi syndrome6 tests
  • Junctional epidermolysis bullosa gravis of Herlitz2 tests
  • Junctional epidermolysis bullosa with pyloric atresia3 tests
  • Junctional epidermolysis bullosa, non-Herlitz type3 tests
  • Juvenile cataract-microcornea-renal glucosuria syndrome2 tests
  • Juvenile hyaline fibromatosis1 test
  • Juvenile myelomonocytic leukemia13 tests
  • Juvenile nephropathic cystinosis2 tests
  • Juvenile onset Parkinson disease 19A1 test
  • Juvenile polyposis syndrome6 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome9 tests
  • Juvenile primary lateral sclerosis1 test
  • Juvenile retinoschisis3 tests
  • Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome3 tests
  • Kabuki syndrome2 tests
  • Kabuki syndrome 115 tests
  • Kabuki syndrome 212 tests
  • Kahrizi syndrome2 tests
  • Kartagener syndrome5 tests
  • Karyomegalic interstitial nephritis1 test
  • KBG syndrome5 tests
  • Kearns-Sayre syndrome1 test
  • Keipert syndrome2 tests
  • Kennedy disease1 test
  • Keppen-Lubinsky syndrome1 test
  • Keratitis fugax hereditaria2 tests
  • Keratoconus 14 tests
  • Keratoderma-ichthyosis-deafness syndrome, autosomal recessive1 test
  • Keratosis follicularis spinulosa decalvans, X-linked2 tests
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome2 tests
  • Keratosis palmoplantaris striata 21 test
  • Keratosis palmoplantaris striata 31 test
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency3 tests
  • Keutel syndrome1 test
  • Kindler syndrome2 tests
  • Kleefstra syndrome 13 tests
  • Kleefstra syndrome 21 test
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome2 tests
  • Klippel-Feil syndrome 1, autosomal dominant2 tests
  • Klippel-Feil syndrome 2, autosomal recessive1 test
  • Klippel-Feil syndrome 3, autosomal dominant3 tests
  • Kniest dysplasia11 tests
  • Knobloch syndrome 13 tests
  • Knobloch syndrome 21 test
  • Knuckle pads, deafness AND leukonychia syndrome3 tests
  • Koolen-de Vries syndrome2 tests
  • Kostmann syndrome3 tests
  • Krabbe disease due to saposin A deficiency2 tests
  • Kufor-Rakeb syndrome3 tests
  • Kugelberg-Welander disease1 test
  • Kury-Isidor syndrome1 test
  • L-2-hydroxyglutaric aciduria3 tests
  • Lacrimoauriculodentodigital syndrome 21 test
  • Lactic acidosis2 tests
  • LADD syndrome 11 test
  • Lamb-Shaffer syndrome1 test
  • LAMB2-related infantile-onset nephrotic syndrome3 tests
  • Langer mesomelic dysplasia syndrome1 test
  • Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia1 test
  • Large congenital melanocytic nevus11 tests
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome2 tests
  • Larsen-like syndrome, B3GAT3 type2 tests
  • Late-onset retinal degeneration2 tests
  • Lateral meningocele syndrome2 tests
  • Lathosterolosis1 test
  • Lattice corneal dystrophy Type I1 test
  • Laurin-Sandrow syndrome1 test
  • Lazy leukocyte syndrome3 tests
  • Leber congenital amaurosis1 test
  • Leber congenital amaurosis 13 tests
  • Leber congenital amaurosis 103 tests
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 122 tests
  • Leber congenital amaurosis 133 tests
  • Leber congenital amaurosis 142 tests
  • Leber congenital amaurosis 152 tests
  • Leber congenital amaurosis 162 tests
  • Leber congenital amaurosis 171 test
  • Leber congenital amaurosis 22 tests
  • Leber congenital amaurosis 32 tests
  • Leber congenital amaurosis 42 tests
  • Leber congenital amaurosis 52 tests
  • Leber congenital amaurosis 62 tests
  • Leber congenital amaurosis 72 tests
  • Leber congenital amaurosis 82 tests
  • Leber congenital amaurosis 91 test
  • Leber congenital amaurosis with early-onset deafness1 test
  • Leber optic atrophy2 tests
  • Leber-like hereditary optic neuropathy, autosomal recessive 11 test
  • Leber-like hereditary optic neuropathy, autosomal recessive 21 test
  • Left ventricular noncompaction 14 tests
  • Left ventricular noncompaction 104 tests
  • Left ventricular noncompaction 73 tests
  • Left ventricular noncompaction 83 tests
  • Legg-Calve-Perthes disease10 tests
  • Legius syndrome6 tests
  • Leigh syndrome4 tests
  • Lenz-Majewski hyperostosis syndrome3 tests
  • LEOPARD syndrome 113 tests
  • LEOPARD syndrome 27 tests
  • LEOPARD syndrome 36 tests
  • Leprechaunism syndrome2 tests
  • Leri-Weill dyschondrosteosis1 test
  • Lesch-Nyhan syndrome1 test
  • Lethal acantholytic epidermolysis bullosa2 tests
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital contracture syndrome 112 tests
  • Lethal congenital contracture syndrome 21 test
  • Lethal congenital contracture syndrome 41 test
  • Lethal congenital glycogen storage disease of heart4 tests
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome2 tests
  • Lethal Kniest-like syndrome2 tests
  • Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1 test
  • Lethal multiple pterygium syndrome3 tests
  • Lethal osteosclerotic bone dysplasia1 test
  • Lethal tight skin contracture syndrome3 tests
  • Lethargy1 test
  • Leucine-induced hypoglycemia3 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukocyte adhesion deficiency 13 tests
  • Leukocyte adhesion deficiency 32 tests
  • Leukocyte adhesion deficiency type II2 tests
  • Leukodystrophy and acquired microcephaly with or without dystonia;1 test
  • Leukodystrophy, hypomyelinating, 141 test
  • Leukodystrophy, hypomyelinating, 152 tests
  • Leukodystrophy, hypomyelinating, 161 test
  • Leukodystrophy, hypomyelinating, 171 test
  • Leukodystrophy, hypomyelinating, 181 test
  • Leukodystrophy, hypomyelinating, 19, transient infantile1 test
  • Leukodystrophy, hypomyelinating, 201 test
  • Leukodystrophy, hypomyelinating, 211 test
  • Leukodystrophy, hypomyelinating, 221 test
  • Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy1 test
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome4 tests
  • Leukoencephalopathy with calcifications and cysts2 tests
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema2 tests
  • Leukoencephalopathy with vanishing white matter 11 test
  • Leukoencephalopathy, diffuse hereditary, with spheroids 11 test
  • Leukoencephalopathy, hereditary diffuse, with spheroids 22 tests
  • Leukoencephalopathy, porphyria-related2 tests
  • Leukoencephalopathy, progressive, with ovarian failure3 tests
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
  • Levy-Hollister syndrome12 tests
  • Lewy body dementia6 tests
  • Leydig cell agenesis1 test
  • Li-Fraumeni syndrome 119 tests
  • Lichtenstein-Knorr syndrome1 test
  • Limb-girdle muscular dystrophy due to POMK deficiency1 test
  • Limb-mammary syndrome4 tests
  • Linear nevus sebaceous syndrome12 tests
  • Linear skin defects with multiple congenital anomalies 15 tests
  • Linear skin defects with multiple congenital anomalies 23 tests
  • Linear skin defects with multiple congenital anomalies 33 tests
  • Lipase deficiency, combined1 test
  • LIPE-related familial partial lipodystrophy1 test
  • Lipoic acid synthetase deficiency2 tests
  • Lipoyl transferase 1 deficiency1 test
  • Lissencephaly1 test
  • Loeys-Dietz syndrome 17 tests
  • Loeys-Dietz syndrome 28 tests
  • Loeys-Dietz syndrome 45 tests
  • Loeys-Dietz syndrome 61 test
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency9 tests
  • Long QT syndrome1 test
  • Long QT syndrome 14 tests
  • Long QT syndrome 103 tests
  • Long QT syndrome 113 tests
  • Long QT syndrome 123 tests
  • Long QT syndrome 133 tests
  • Long QT syndrome 143 tests
  • Long QT syndrome 154 tests
  • Long QT syndrome 163 tests
  • Long QT syndrome 23 tests
  • Long QT syndrome 34 tests
  • Long QT syndrome 54 tests
  • Long QT syndrome 63 tests
  • Long QT syndrome 82 tests
  • Long QT syndrome 96 tests
  • Low density lipoprotein cholesterol level quantitative trait locus 31 test
  • Low phospholipid associated cholelithiasis2 tests
  • Lowe syndrome5 tests
  • Lower motor neuron syndrome with late-adult onset2 tests
  • Lower urinary tract obstruction, congenital1 test
  • Lowry-Wood syndrome1 test
  • Lucey-Driscoll syndrome2 tests
  • Lung cancer10 tests
  • Lung carcinoma3 tests
  • Lung disease, immunodeficiency, and chromosome breakage syndrome;1 test
  • Luscan-Lumish syndrome2 tests
  • Lymphangiomyomatosis5 tests
  • Lymphatic malformation 121 test
  • Lymphatic malformation 31 test
  • Lymphatic malformation 41 test
  • Lymphatic malformation 64 tests
  • Lymphatic malformation 73 tests
  • Lymphedema-posterior choanal atresia syndrome2 tests
  • Lymphoma1 test
  • Lymphoma, non-Hodgkin, familial6 tests
  • Lymphoproliferative syndrome 15 tests
  • Lymphoproliferative syndrome 22 tests
  • Lynch syndrome1 test
  • Lynch syndrome 116 tests
  • Lynch syndrome 417 tests
  • Lynch syndrome 517 tests
  • Lynch syndrome 815 tests
  • Lysinuric protein intolerance5 tests
  • Lysosomal acid lipase deficiency2 tests
  • LZTR1-related schwannomatosis6 tests
  • Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
  • Macrocephaly-autism syndrome12 tests
  • Macrocephaly-developmental delay syndrome1 test
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome4 tests
  • Macrocephaly/megalencephaly syndrome, autosomal recessive1 test
  • Macroglobulinemia, Waldenstrom, 11 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss5 tests
  • Macrothrombocytopenia, isolated, 1, autosomal dominant3 tests
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1 test
  • Macular corneal dystrophy2 tests
  • Macular degeneration, age-related, 33 tests
  • Macular degeneration, early-onset2 tests
  • Macular degeneration, X-linked atrophic2 tests
  • Macular dystrophy with central cone involvement2 tests
  • Majeed syndrome2 tests
  • Malan overgrowth syndrome2 tests
  • Malaria, susceptibility to4 tests
  • Maleylacetoacetate isomerase deficiency1 test
  • Malignant hyperthermia of anesthesia1 test
  • Malignant hyperthermia, susceptibility to, 14 tests
  • Malignant hyperthermia, susceptibility to, 53 tests
  • Malignant tumor of breast2 tests
  • Malignant tumor of esophagus5 tests
  • Malignant tumor of testis3 tests
  • Malignant tumor of urinary bladder16 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome5 tests
  • Mandibuloacral dysplasia with type A lipodystrophy2 tests
  • Mandibuloacral dysplasia with type B lipodystrophy2 tests
  • Mandibulofacial dysostosis-microcephaly syndrome7 tests
  • Mannose-binding lectin deficiency1 test
  • Maple syrup urine disease4 tests
  • Maple syrup urine disease type 1A1 test
  • Marden-Walker syndrome2 tests
  • Marfan syndrome12 tests
  • Marinesco-Sjögren syndrome4 tests
  • Marshall syndrome8 tests
  • Marshall-Smith syndrome2 tests
  • Martsolf syndrome2 tests
  • MASA syndrome3 tests
  • MASS syndrome9 tests
  • Mast syndrome1 test
  • Matthew-Wood syndrome3 tests
  • Maturity-onset diabetes of the young1 test
  • Maturity-onset diabetes of the young type 15 tests
  • Maturity-onset diabetes of the young type 103 tests
  • Maturity-onset diabetes of the young type 113 tests
  • Maturity-onset diabetes of the young type 132 tests
  • Maturity-onset diabetes of the young type 143 tests
  • Maturity-onset diabetes of the young type 23 tests
  • Maturity-onset diabetes of the young type 34 tests
  • Maturity-onset diabetes of the young type 44 tests
  • Maturity-onset diabetes of the young type 63 tests
  • Maturity-onset diabetes of the young type 73 tests
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 93 tests
  • McKusick-Kaufman syndrome5 tests
  • Meacham syndrome7 tests
  • Meckel syndrome 131 test
  • Meckel syndrome, type 14 tests
  • Meckel syndrome, type 102 tests
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 23 tests
  • Meckel syndrome, type 32 tests
  • Meckel syndrome, type 44 tests
  • Meckel syndrome, type 54 tests
  • Meckel syndrome, type 65 tests
  • Meckel syndrome, type 82 tests
  • Meckel syndrome, type 93 tests
  • Meconium ileus1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency7 tests
  • MEDNIK syndrome2 tests
  • Medulloblastoma12 tests
  • Meesmann corneal dystrophy2 tests
  • Meester-Loeys syndrome2 tests
  • Megabladder, congenital1 test
  • Megaconial type congenital muscular dystrophy3 tests
  • Megacystis, microcolon, hypoperistalsis syndrome1 test
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 11 test
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 21 test
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 31 test
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 41 test
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 51 test
  • Megalencephalic leukoencephalopathy with subcortical cysts2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome5 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 13 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 23 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 33 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness5 tests
  • Megalocornea1 test
  • MEGF10-related myopathy1 test
  • MEGF8-related Carpenter syndrome1 test
  • MEHMO syndrome1 test
  • Melanoma and neural system tumor syndrome3 tests
  • Melanoma, cutaneous malignant, susceptibility to, 12 tests
  • Melanoma, cutaneous malignant, susceptibility to, 25 tests
  • Melanoma, cutaneous malignant, susceptibility to, 35 tests
  • Melanoma, cutaneous malignant, susceptibility to, 86 tests
  • Melanoma, cutaneous malignant, susceptibility to, 94 tests
  • Melanoma, uveal, susceptibility to, 12 tests
  • Melanoma, uveal, susceptibility to, 21 test
  • Melanoma-pancreatic cancer syndrome5 tests
  • MELAS syndrome1 test
  • Melnick-Needles syndrome8 tests
  • Melorheostosis1 test
  • MEND syndrome5 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency3 tests
  • Menke-Hennekam syndrome 15 tests
  • Menke-Hennekam syndrome 24 tests
  • Menkes kinky-hair syndrome9 tests
  • Menstrual cycle-dependent periodic fever2 tests
  • Merosin deficient congenital muscular dystrophy5 tests
  • MERRF syndrome1 test
  • Mesoaxial synostotic syndactyly with phalangeal reduction2 tests
  • Mesothelioma, malignant8 tests
  • Metabolic acidosis1 test
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression4 tests
  • Metabolic disease1 test
  • Metabolic ketoacidosis1 test
  • Metabolic myopathy1 test
  • Metabolic myopathy due to lactate transporter defect1 test
  • Metabolic syndrome X1 test
  • Metachondromatosis10 tests
  • Metachromatic leukodystrophy4 tests
  • Metaphyseal chondrodysplasia, Jansen type2 tests
  • Metaphyseal chondrodysplasia, McKusick type2 tests
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal dysplasia without hypotrichosis2 tests
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome1 test
  • Metatropic dysplasia2 tests
  • Methemoglobinemia type 42 tests
  • Methemoglobinemia, alpha type1 test
  • METHEMOGLOBINEMIA, BETA TYPE1 test
  • Methylcobalamin deficiency type cblE2 tests
  • Methylcobalamin deficiency type cblG2 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency2 tests
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency3 tests
  • Methylmalonic acidemia due to transcobalamin receptor defect2 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ2 tests
  • Methylmalonic acidemia with homocystinuria, type cblX2 tests
  • Methylmalonic aciduria and homocystinuria type cblD4 tests
  • Methylmalonic aciduria and homocystinuria type cblF2 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency5 tests
  • Methylmalonic aciduria, cblA type3 tests
  • Methylmalonic aciduria, cblB type3 tests
  • Mevalonic aciduria4 tests
  • MGAT2-congenital disorder of glycosylation2 tests
  • MHC class I deficiency 11 test
  • MHC class I deficiency 21 test
  • MHC class I deficiency 31 test
  • MHC class II deficiency 11 test
  • MHC class II deficiency 21 test
  • MHC class II deficiency 31 test
  • MHC class II deficiency 41 test
  • MHC class II deficiency 51 test
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant7 tests
  • Microcephalic osteodysplastic primordial dwarfism type II5 tests
  • Microcephaly 18, primary, autosomal dominant1 test
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1 test
  • Microcephaly 22, primary, autosomal recessive1 test
  • Microcephaly and chorioretinopathy 11 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability3 tests
  • Microcephaly, developmental delay, and brittle hair syndrome1 test
  • Microcephaly, epilepsy, and diabetes syndrome1 test
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1 test
  • Microcephaly, growth deficiency, seizures, and brain malformations1 test
  • Microcephaly, normal intelligence and immunodeficiency7 tests
  • Microcephaly, seizures, and developmental delay1 test
  • Microcephaly, short stature, and impaired glucose metabolism 12 tests
  • Microcephaly, short stature, and impaired glucose metabolism 22 tests
  • Microcephaly, short stature, and limb abnormalities1 test
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2 tests
  • Microcephaly-micromelia syndrome1 test
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 11 test
  • Microcornea-myopic chorioretinal atrophy3 tests
  • Microdeletion syndromes3 tests
  • Microduplication syndromes3 tests
  • Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2 tests
  • Microphthalmia with brain and digit anomalies10 tests
  • Microphthalmia with limb anomalies3 tests
  • Microphthalmia, isolated, with coloboma 102 tests
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 54 tests
  • Microphthalmia, isolated, with coloboma 63 tests
  • Microphthalmia, isolated, with coloboma 72 tests
  • Microphthalmia, isolated, with coloboma 92 tests
  • Microphthalmia, syndromic 14 tests
  • Microphthalmia, syndromic 113 tests
  • Microphthalmia, syndromic 124 tests
  • Microphthalmia/coloboma 131 test
  • Microspherophakia1 test
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma3 tests
  • Microvascular complications of diabetes, susceptibility to, 21 test
  • Microvascular complications of diabetes, susceptibility to, 31 test
  • Microvascular complications of diabetes, susceptibility to, 41 test
  • Migraine, familial hemiplegic, 14 tests
  • Migraine, familial hemiplegic, 22 tests
  • Migraine, familial hemiplegic, 35 tests
  • Migraine, with or without aura, susceptibility to, 131 test
  • Miller syndrome5 tests
  • MIRAGE syndrome5 tests
  • Mirror movements 22 tests
  • Mismatch repair cancer syndrome 18 tests
  • Mismatch repair cancer syndrome 28 tests
  • Mismatch repair cancer syndrome 39 tests
  • Mismatch repair cancer syndrome 410 tests
  • Mitchell syndrome1 test
  • Mitochondrial complex 1 deficiency, nuclear type 351 test
  • Mitochondrial complex 2 deficiency, nuclear type 34 tests
  • Mitochondrial complex 2 deficiency, nuclear type 44 tests
  • Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61 test
  • Mitochondrial complex I deficiency2 tests
  • Mitochondrial complex I deficiency, nuclear type 12 tests
  • Mitochondrial complex I deficiency, nuclear type 102 tests
  • Mitochondrial complex I deficiency, nuclear type 111 test
  • Mitochondrial complex I deficiency, nuclear type 122 tests
  • Mitochondrial complex I deficiency, nuclear type 132 tests
  • Mitochondrial complex I deficiency, nuclear type 141 test
  • Mitochondrial complex I deficiency, nuclear type 152 tests
  • Mitochondrial complex I deficiency, nuclear type 163 tests
  • Mitochondrial complex I deficiency, nuclear type 172 tests
  • Mitochondrial complex I deficiency, nuclear type 182 tests
  • Mitochondrial complex I deficiency, nuclear type 192 tests
  • Mitochondrial complex I deficiency, nuclear type 21 test
  • Mitochondrial complex I deficiency, nuclear type 211 test
  • Mitochondrial complex I deficiency, nuclear type 222 tests
  • Mitochondrial complex I deficiency, nuclear type 233 tests
  • Mitochondrial complex I deficiency, nuclear type 241 test
  • Mitochondrial complex I deficiency, nuclear type 251 test
  • Mitochondrial complex I deficiency, nuclear type 262 tests
  • Mitochondrial complex I deficiency, nuclear type 272 tests
  • Mitochondrial complex I deficiency, nuclear type 281 test
  • Mitochondrial complex I deficiency, nuclear type 292 tests
  • Mitochondrial complex I deficiency, nuclear type 32 tests
  • Mitochondrial complex I deficiency, nuclear type 303 tests
  • Mitochondrial complex I deficiency, nuclear type 311 test
  • Mitochondrial complex I deficiency, nuclear type 322 tests
  • Mitochondrial complex I deficiency, nuclear type 341 test
  • Mitochondrial complex I deficiency, nuclear type 41 test
  • Mitochondrial complex I deficiency, nuclear type 51 test
  • Mitochondrial complex I deficiency, nuclear type 62 tests
  • Mitochondrial complex I deficiency, nuclear type 71 test
  • Mitochondrial complex I deficiency, nuclear type 82 tests
  • Mitochondrial complex I deficiency, nuclear type 91 test
  • Mitochondrial complex II deficiency, nuclear type 18 tests
  • Mitochondrial complex III deficiency nuclear type 13 tests
  • Mitochondrial complex III deficiency nuclear type 22 tests
  • Mitochondrial complex III deficiency nuclear type 32 tests
  • Mitochondrial complex III deficiency nuclear type 41 test
  • Mitochondrial complex III deficiency nuclear type 53 tests
  • Mitochondrial complex III deficiency nuclear type 61 test
  • Mitochondrial complex III deficiency nuclear type 71 test
  • Mitochondrial complex III deficiency nuclear type 82 tests
  • Mitochondrial complex III deficiency nuclear type 92 tests
  • Mitochondrial complex IV deficiency, nuclear type 11 test
  • Mitochondrial complex IV deficiency, nuclear type 111 test
  • Mitochondrial complex IV deficiency, nuclear type 161 test
  • Mitochondrial complex IV deficiency, nuclear type 71 test
  • Mitochondrial complex IV deficiency, nuclear type 81 test
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 26 tests
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 31 test
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B1 test
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 53 tests
  • Mitochondrial disease3 tests
  • Mitochondrial DNA deletion syndrome with progressive myopathy4 tests
  • Mitochondrial DNA depletion syndrome 17 tests
  • Mitochondrial DNA depletion syndrome 115 tests
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant5 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive5 tests
  • Mitochondrial DNA depletion syndrome 137 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)4 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 16 (hepatic type)4 tests
  • Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)3 tests
  • Mitochondrial DNA depletion syndrome 171 test
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)6 tests
  • Mitochondrial DNA depletion syndrome 4b7 tests
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)5 tests
  • Mitochondrial DNA depletion syndrome 8a6 tests
  • Mitochondrial DNA depletion syndrome 94 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria7 tests
  • Mitochondrial DNA depletion syndrome, myopathic form8 tests
  • Mitochondrial DNA maintenance syndrome1 test
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency6 tests
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy2 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome2 tests
  • Mitochondrial pyruvate carrier deficiency2 tests
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency3 tests
  • Mitochondrial trifunctional protein deficiency7 tests
  • Mitochondrial trifunctional protein deficiency 13 tests
  • Mitochondrial trifunctional protein deficiency 22 tests
  • Mitral valve prolapse, myxomatous 22 tests
  • Mitral valve prolapse, myxomatous 31 test
  • Miyoshi muscular dystrophy 12 tests
  • Miyoshi muscular dystrophy 32 tests
  • MOGS-congenital disorder of glycosylation2 tests
  • Mohr syndrome1 test
  • Monocytopenia with susceptibility to infections2 tests
  • Monosomy 7 myelodysplasia and leukemia syndrome 11 test
  • Monosomy 7 myelodysplasia and leukemia syndrome 23 tests
  • MORM syndrome2 tests
  • Mosaic variegated aneuploidy syndrome 12 tests
  • Mosaic variegated aneuploidy syndrome 32 tests
  • Movement disorder1 test
  • Mowat-Wilson syndrome5 tests
  • Moyamoya disease 21 test
  • Moyamoya disease 53 tests
  • Moyamoya disease with early-onset achalasia1 test
  • MPDU1-congenital disorder of glycosylation2 tests
  • MPI-congenital disorder of glycosylation2 tests
  • Mucocutaneous ulceration, chronic1 test
  • Mucolipidosis type II2 tests
  • Mucolipidosis type IV2 tests
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis type 72 tests
  • Mucopolysaccharidosis, MPS-I-H/S2 tests
  • Mucopolysaccharidosis, MPS-I-S2 tests
  • Mucopolysaccharidosis, MPS-II2 tests
  • Mucopolysaccharidosis, MPS-III-A2 tests
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-III-D1 test
  • Mucopolysaccharidosis, MPS-IV-A2 tests
  • Mucopolysaccharidosis, MPS-IV-B2 tests
  • Mucopolysaccharidosis-plus syndrome1 test
  • Mucosa-associated lymphoma2 tests
  • Muenke syndrome11 tests
  • Muir-Torré syndrome14 tests
  • Mulibrey nanism syndrome4 tests
  • Mullegama-Klein-Martinez syndrome1 test
  • Mullerian aplasia and hyperandrogenism5 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy3 tests
  • Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome2 tests
  • Multiple acyl-CoA dehydrogenase deficiency9 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 14 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 23 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
  • Multiple congenital anomalies-neurodevelopmental syndrome, X-linked1 test
  • Multiple congenital exostosis2 tests
  • Multiple endocrine neoplasia type 2A7 tests
  • Multiple endocrine neoplasia type 2B7 tests
  • Multiple endocrine neoplasia type 44 tests
  • Multiple endocrine neoplasia, type 17 tests
  • Multiple epiphyseal dysplasia type 12 tests
  • Multiple epiphyseal dysplasia type 44 tests
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple epiphyseal dysplasia, Al-Gazali type3 tests
  • Multiple epiphyseal dysplasia, Beighton type9 tests
  • Multiple mitochondrial dysfunctions syndrome 13 tests
  • Multiple mitochondrial dysfunctions syndrome 23 tests
  • Multiple mitochondrial dysfunctions syndrome 33 tests
  • Multiple mitochondrial dysfunctions syndrome 44 tests
  • Multiple mitochondrial dysfunctions syndrome 51 test
  • Multiple mitochondrial dysfunctions syndrome 61 test
  • Multiple myeloma3 tests
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple self-healing squamous epithelioma4 tests
  • Multiple sulfatase deficiency4 tests
  • Multiple synostoses syndrome 22 tests
  • Multiple synostoses syndrome 41 test
  • Multiple system atrophy 1, susceptibility to2 tests
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • Mungan syndrome2 tests
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease1 test
  • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome1 test
  • Muscular dystrophy, congenital, with or without seizures1 test
  • Muscular dystrophy, limb-girdle, autosomal dominant 41 test
  • Muscular dystrophy, limb-girdle, autosomal recessive 233 tests
  • Muscular dystrophy, limb-girdle, autosomal recessive 261 test
  • Muscular dystrophy, limb-girdle, autosomal recessive 271 test
  • Muscular dystrophy, limb-girdle, autosomal recessive 281 test
  • Muscular dystrophy-dystroglycanopathy1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 123 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 42 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 74 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A15 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A132 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A143 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A23 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A33 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A52 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A63 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A92 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 151 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B12 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B142 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B33 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B42 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 81 test
  • Muscular dystrophy-dystroglycanopathy type B52 tests
  • Muscular dystrophy-dystroglycanopathy type B62 tests
  • Mutilating keratoderma3 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel3 tests
  • Myasthenic syndrome, congenital, 222 tests
  • Myasthenic syndrome, congenital, 23, presynaptic3 tests
  • Myasthenic syndrome, congenital, 24, presynaptic2 tests
  • Myasthenic syndrome, congenital, 25, presynaptic2 tests
  • Mycobacterium tuberculosis, susceptibility to2 tests
  • Myelodysplastic syndrome6 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • MYH7-related skeletal myopathy1 test
  • Myhre syndrome7 tests
  • Myocardial infarction, susceptibility to1 test
  • Myoclonic dystonia 111 test
  • Myoclonic epilepsy of Lafora 13 tests
  • Myoclonic epilepsy of Lafora 23 tests
  • Myoclonus, familial, 22 tests
  • Myoclonus, intractable, neonatal1 test
  • Myofibrillar myopathy 111 test
  • Myofibrillar myopathy 22 tests
  • Myofibrillar myopathy 32 tests
  • Myofibrillar myopathy 44 tests
  • Myofibrillar myopathy 52 tests
  • Myofibrillar myopathy 66 tests
  • Myofibrillar myopathy 71 test
  • Myofibrillar myopathy 81 test
  • Myofibromatosis, infantile, 11 test
  • Myofibromatosis, infantile, 22 tests
  • Myoglobinuria, acute recurrent, autosomal recessive3 tests
  • Myopathy due to calsequestrin and SERCA1 protein overload2 tests
  • Myopathy with abnormal lipid metabolism5 tests
  • Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis2 tests
  • Myopathy, centronuclear, 21 test
  • Myopathy, centronuclear, 51 test
  • Myopathy, centronuclear, 6, with fiber-type disproportion1 test
  • Myopathy, congenital proximal, with minicore lesions1 test
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies2 tests
  • Myopathy, congenital, with respiratory insufficiency and bone fractures1 test
  • Myopathy, congenital, with structured cores and z-line abnormalities1 test
  • Myopathy, congenital, with tremor1 test
  • Myopathy, distal, 51 test
  • Myopathy, distal, 6, adult-onset, autosomal dominant1 test
  • Myopathy, distal, 7, adult-onset, X-linked1 test
  • Myopathy, distal, with rimmed vacuoles2 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 14 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 23 tests
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy1 test
  • Myopathy, myofibrillar, 9, with early respiratory failure1 test
  • Myopathy, myosin storage, autosomal recessive1 test
  • Myopathy, proximal, and ophthalmoplegia1 test
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Myopathy, sarcoplasmic body1 test
  • Myopathy, tubular aggregate, 16 tests
  • Myopathy, tubular aggregate, 22 tests
  • Myopia 21, autosomal dominant1 test
  • Myopia 22, autosomal dominant1 test
  • Myopia 23, autosomal recessive1 test
  • Myopia 24, autosomal dominant1 test
  • Myopia 25, autosomal dominant1 test
  • Myopia 26, X-linked, female-limited1 test
  • Myopia 271 test
  • Myopia 62 tests
  • Myopia, high, with cataract and vitreoretinal degeneration3 tests
  • Myosclerosis1 test
  • Myosin storage myopathy1 test
  • MYPN-related myopathy2 tests
  • NAD(P)HX dehydratase deficiency1 test
  • Nager syndrome7 tests
  • Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome1 test
  • Nail-patella syndrome3 tests
  • Namaqualand hip dysplasia9 tests
  • Nance-Horan syndrome4 tests
  • Nanophthalmos 23 tests
  • Nanophthalmos 41 test
  • NARP syndrome1 test
  • Nasopharyngeal carcinoma6 tests
  • Naxos disease2 tests
  • NEK9-related lethal skeletal dysplasia1 test
  • Nemaline myopathy 101 test
  • Nemaline myopathy 26 tests
  • Nemaline myopathy 51 test
  • Nemaline myopathy 61 test
  • Nemaline myopathy 71 test
  • Nemaline myopathy 82 tests
  • Nemaline myopathy 91 test
  • Neonatal diabetes mellitus with congenital hypothyroidism2 tests
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome3 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal intrahepatic cholestasis due to citrin deficiency5 tests
  • Neonatal pseudo-hydrocephalic progeroid syndrome2 tests
  • Neonatal respiratory distress1 test
  • Neoplasm of stomach1 test
  • Nephroblastoma1 test
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephrolithiasis, calcium oxalate1 test
  • Nephrolithiasis/nephrocalcinosis1 test
  • Nephronophthisis 13 tests
  • Nephronophthisis 111 test
  • Nephronophthisis 125 tests
  • Nephronophthisis 133 tests
  • Nephronophthisis 142 tests
  • Nephronophthisis 154 tests
  • Nephronophthisis 163 tests
  • Nephronophthisis 182 tests
  • Nephronophthisis 194 tests
  • Nephronophthisis 201 test
  • Nephronophthisis 33 tests
  • Nephronophthisis 43 tests
  • Nephronophthisis 72 tests
  • Nephronophthisis 94 tests
  • Nephronophthisis-like nephropathy 11 test
  • Nephropathic cystinosis2 tests
  • Nephrotic syndrome 143 tests
  • Nephrotic syndrome 151 test
  • Nephrotic syndrome, type 101 test
  • Nephrotic syndrome, type 112 tests
  • Nephrotic syndrome, type 121 test
  • Nephrotic syndrome, type 131 test
  • Nephrotic syndrome, type 181 test
  • Nephrotic syndrome, type 191 test
  • Nephrotic syndrome, type 23 tests
  • Nephrotic syndrome, type 201 test
  • Nephrotic syndrome, type 211 test
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 45 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 92 tests
  • Nestor-Guillermo progeria syndrome1 test
  • Netherton syndrome2 tests
  • Neu-Laxova syndrome 14 tests
  • Neu-Laxova syndrome 22 tests
  • Neural tube defects, folate-sensitive4 tests
  • Neural tube defects, susceptibility to2 tests
  • Neuroblastoma1 test
  • Neuroblastoma, susceptibility to, 12 tests
  • Neuroblastoma, susceptibility to, 24 tests
  • Neuroblastoma, susceptibility to, 34 tests
  • Neurocutaneous melanocytosis7 tests
  • Neurodegeneration with ataxia and late-onset optic atrophy6 tests
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
  • Neurodegeneration with brain iron accumulation 2B1 test
  • Neurodegeneration with brain iron accumulation 44 tests
  • Neurodegeneration with brain iron accumulation 53 tests
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurodegeneration with brain iron accumulation 71 test
  • Neurodegeneration with brain iron accumulation 81 test
  • Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline1 test
  • Neurodegeneration, childhood-onset, with cerebellar atrophy1 test
  • Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction2 tests
  • Neurodegeneration, infantile-onset, biotin-responsive1 test
  • Neurodevelopmental disorder plus optic atrophy1 test
  • Neurodevelopmental disorder with alopecia and brain abnormalities1 test
  • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities2 tests
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1 test
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1 test
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness2 tests
  • Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language1 test
  • Neurodevelopmental disorder with involuntary movements1 test
  • Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities1 test
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination1 test
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart2 tests
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1 test
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1 test
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2 tests
  • Neurodevelopmental disorder with visual defects and brain anomalies2 tests
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2 tests
  • Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1 test
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, familial spinal12 tests
  • Neurofibromatosis, type 119 tests
  • Neurofibromatosis, type 23 tests
  • Neurofibromatosis-Noonan syndrome14 tests
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 11 test
  • Neurological deficit1 test
  • Neuromuscular disease1 test
  • Neuronal ceroid lipofuscinosis1 test
  • Neuronal ceroid lipofuscinosis 12 tests
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 113 tests
  • Neuronal ceroid lipofuscinosis 131 test
  • Neuronal ceroid lipofuscinosis 21 test
  • Neuronal ceroid lipofuscinosis 34 tests
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 72 tests
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
  • Neuronopathy, distal hereditary motor, autosomal dominant 101 test
  • Neuronopathy, distal hereditary motor, autosomal dominant 111 test
  • Neuronopathy, distal hereditary motor, autosomal dominant 82 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 102 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 41 test
  • Neuronopathy, distal hereditary motor, autosomal recessive 51 test
  • Neuronopathy, distal hereditary motor, autosomal recessive 72 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 91 test
  • Neuronopathy, distal hereditary motor, type 2A2 tests
  • Neuronopathy, distal hereditary motor, type 2B2 tests
  • Neuronopathy, distal hereditary motor, type 2C1 test
  • Neuronopathy, distal hereditary motor, type 2D3 tests
  • Neuronopathy, distal hereditary motor, type 52 tests
  • Neuronopathy, distal hereditary motor, type 5A1 test
  • Neuronopathy, distal hereditary motor, type 5B3 tests
  • Neuronopathy, distal hereditary motor, type 5C2 tests
  • Neuronopathy, distal hereditary motor, type 7A4 tests
  • Neuronopathy, distal hereditary motor, type 7B5 tests
  • Neuronopathy, distal hereditary motor, type 91 test
  • Neurooculocardiogenitourinary syndrome2 tests
  • Neuropathy, congenital hypomyelinating, 31 test
  • Neuropathy, hereditary motor and sensory, type 6A2 tests
  • Neuropathy, hereditary motor and sensory, type 6B4 tests
  • Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy1 test
  • Neuropathy, hereditary sensory and autonomic, type 1A2 tests
  • Neuropathy, hereditary sensory and autonomic, type 1C4 tests
  • Neuropathy, hereditary sensory and autonomic, type 2A2 tests
  • Neuropathy, hereditary sensory and autonomic, type 2B1 test
  • Neuropathy, hereditary sensory, type 1D2 tests
  • Neuropathy, hereditary sensory, type 1F2 tests
  • Neuropathy, hereditary sensory, type 2C3 tests
  • Neutral lipid storage myopathy3 tests
  • Neutropenia, severe congenital, 1, autosomal dominant6 tests
  • Neutropenia, severe congenital, 11, autosomal dominant1 test
  • Neutropenia, severe congenital, 2, autosomal dominant3 tests
  • Neutropenia, severe congenital, 8, autosomal dominant4 tests
  • Neutropenia, severe congenital, 9, autosomal dominant3 tests
  • Neutrophil immunodeficiency syndrome5 tests
  • Newfoundland cone-rod dystrophy1 test
  • Nicolaides-Baraitser syndrome2 tests
  • Niemann-Pick disease, type A7 tests
  • Niemann-Pick disease, type B8 tests
  • Niemann-Pick disease, type C15 tests
  • Niemann-Pick disease, type C25 tests
  • Night blindness, congenital stationary, type1i1 test
  • Nijmegen breakage syndrome-like disorder2 tests
  • NODAL-Related Holoprosencephaly1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities7 tests
  • Non-Hodgkin lymphoma1 test
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to1 test
  • Nonimmune chronic idiopathic neutropenia of adults3 tests
  • Nonpapillary renal cell carcinoma10 tests
  • Nonsyndromic congenital nail disorder 81 test
  • Noonan syndrome1 test
  • Noonan syndrome 114 tests
  • Noonan syndrome 108 tests
  • Noonan syndrome 115 tests
  • Noonan syndrome 125 tests
  • Noonan syndrome 135 tests
  • Noonan syndrome 26 tests
  • Noonan syndrome 311 tests
  • Noonan syndrome 410 tests
  • Noonan syndrome 59 tests
  • Noonan syndrome 611 tests
  • Noonan syndrome 78 tests
  • Noonan syndrome 87 tests
  • Noonan syndrome 96 tests
  • Noonan syndrome-like disorder with loose anagen hair 17 tests
  • Noonan syndrome-like disorder with loose anagen hair 27 tests
  • Normal pressure hydrocephalus1 test
  • Norman-Roberts syndrome1 test
  • Normophosphatemic familial tumoral calcinosis4 tests
  • North Carolina macular dystrophy1 test
  • Norum disease1 test
  • NPHP3-related Meckel-like syndrome2 tests
  • Nuclear pulverulent cataract2 tests
  • Nystagmus 6, congenital, X-linked2 tests
  • O'Donnell-Luria-Rodan syndrome2 tests
  • Obesity4 tests
  • OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
  • Obesity due to congenital leptin deficiency5 tests
  • Obesity due to leptin receptor gene deficiency5 tests
  • Obesity due to pro-opiomelanocortin deficiency2 tests
  • Obesity due to prohormone convertase I deficiency7 tests
  • Obesity, hyperphagia, and developmental delay1 test
  • Occult macular dystrophy1 test
  • Ocular albinism with congenital sensorineural hearing loss3 tests
  • Ocular albinism, type I2 tests
  • Ocular cystinosis2 tests
  • Oculoauricular syndrome1 test
  • Oculocutaneous albinism1 test
  • Oculocutaneous albinism type 11 test
  • Oculocutaneous albinism type 1B1 test
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 41 test
  • Oculocutaneous albinism type 61 test
  • Oculocutaneous albinism type 71 test
  • Oculocutaneous albinism type 81 test
  • Oculocutaneous or ocular albinism1 test
  • Oculodentodigital dysplasia8 tests
  • Oculodentodigital dysplasia, autosomal recessive6 tests
  • Oculofaciocardiodental syndrome6 tests
  • Oculomaxillofacial dysostosis4 tests
  • Oculootoradial syndrome3 tests
  • Oculopharyngeal muscular dystrophy1 test
  • Oculopharyngeal muscular dystrophy 11 test
  • Oculotrichoanal syndrome5 tests
  • Odonto-onycho-dermal dysplasia1 test
  • Odontochondrodysplasia1 test
  • Odontochondrodysplasia 11 test
  • Ogden syndrome4 tests
  • Oguchi disease-12 tests
  • Oguchi disease-22 tests
  • Oligodontia-cancer predisposition syndrome5 tests
  • Oligosynaptic infertility1 test
  • Olmsted syndrome, X-linked3 tests
  • Oocyte maturation defect 91 test
  • Opsismodysplasia2 tests
  • Optic atrophy3 tests
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures2 tests
  • Optic atrophy 111 test
  • Optic atrophy 121 test
  • Optic atrophy 13 with retinal and foveal abnormalities1 test
  • Optic atrophy 141 test
  • Optic atrophy 151 test
  • Optic atrophy 161 test
  • Optic atrophy 33 tests
  • Optic atrophy 54 tests
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy7 tests
  • Ornithine aminotransferase deficiency1 test
  • Ornithine carbamoyltransferase deficiency6 tests
  • Orofacial cleft 101 test
  • Orofacial cleft 116 tests
  • Orofacial cleft 151 test
  • Orofacial cleft 51 test
  • Orofacial cleft 6, susceptibility to3 tests
  • Orofacial cleft 83 tests
  • Orofacial-digital syndrome IV2 tests
  • Orofaciodigital syndrome 161 test
  • Orofaciodigital syndrome 172 tests
  • Orofaciodigital syndrome I2 tests
  • Orofaciodigital syndrome type 141 test
  • Orofaciodigital syndrome type 61 test
  • Orthostatic hypotension 11 test
  • Osteoarthritis susceptibility 51 test
  • Osteochondrodysplasia, brachydactyly, and overlapping malformed digits1 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteofibrous dysplasia2 tests
  • Osteogenesis imperfecta type 103 tests
  • Osteogenesis imperfecta type 113 tests
  • Osteogenesis imperfecta type 123 tests
  • Osteogenesis imperfecta type 133 tests
  • Osteogenesis imperfecta type 143 tests
  • Osteogenesis imperfecta type 153 tests
  • Osteogenesis imperfecta type 162 tests
  • Osteogenesis imperfecta type 175 tests
  • Osteogenesis imperfecta type 53 tests
  • Osteogenesis imperfecta type 63 tests
  • Osteogenesis imperfecta type 74 tests
  • Osteogenesis imperfecta type 84 tests
  • Osteogenesis imperfecta type 93 tests
  • Osteogenesis imperfecta type I6 tests
  • Osteogenesis imperfecta type III6 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form6 tests
  • Osteogenesis imperfecta, IIA 221 test
  • Osteogenesis imperfecta, perinatal lethal6 tests
  • Osteogenesis imperfecta, type 183 tests
  • Osteogenesis imperfecta, type 193 tests
  • Osteogenesis imperfecta, type 202 tests
  • Osteogenesis imperfecta, type 212 tests
  • Osteoglophonic dysplasia8 tests
  • Osteopathia striata with cranial sclerosis5 tests
  • Osteopetrosis with renal tubular acidosis3 tests
  • Osteoporosis1 test
  • Osteoporosis with pseudoglioma1 test
  • OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO2 tests
  • Osteosarcoma1 test
  • Otitis media, susceptibility to1 test
  • Oto-palato-digital syndrome, type I10 tests
  • Oto-palato-digital syndrome, type II10 tests
  • Otofaciocervical syndrome 13 tests
  • Otofaciocervical syndrome 22 tests
  • Otosclerosis 124 tests
  • Otospondylomegaepiphyseal dysplasia1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant7 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive6 tests
  • Ovarian cancer1 test
  • Ovarian dysgenesis 13 tests
  • Ovarian dysgenesis 23 tests
  • Ovarian dysgenesis 33 tests
  • Ovarian dysgenesis 51 test
  • Ovarian dysgenesis 71 test
  • Ovarian hyperstimulation syndrome1 test
  • Ovarian neoplasm4 tests
  • Overhydrated hereditary stomatocytosis1 test
  • Oxoglutaricaciduria1 test
  • Paganini-Miozzo syndrome1 test
  • Paget disease of bone 2, early-onset1 test
  • Paget disease of bone 34 tests
  • Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3 tests
  • Pallister-Hall syndrome10 tests
  • Palmoplantar keratoderma i, striate, focal, or diffuse1 test
  • Palmoplantar keratoderma, epidermolytic, 21 test
  • Palmoplantar keratoderma-deafness syndrome3 tests
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome4 tests
  • Pancreatic agenesis 13 tests
  • Pancreatic agenesis 23 tests
  • Pancreatic cancer, susceptibility to, 12 tests
  • Pancreatic cancer, susceptibility to, 213 tests
  • Pancreatic cancer, susceptibility to, 310 tests
  • Pancreatic cancer, susceptibility to, 410 tests
  • Pancreatic cancer, susceptibility to, 52 tests
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome4 tests
  • Pancreatic triacylglycerol lipase deficiency1 test
  • Pancytopenia due to IKZF1 mutations4 tests
  • Pancytopenia-developmental delay syndrome2 tests
  • Panhypopituitarism, X-linked8 tests
  • Papillary renal cell carcinoma type 11 test
  • Papillon-Lefèvre syndrome3 tests
  • Paragangliomas with sensorineural hearing loss3 tests
  • Paramyotonia congenita of Von Eulenburg2 tests
  • Parastremmatic dwarfism2 tests
  • Parathyroid carcinoma5 tests
  • Parietal foramina 11 test
  • Parietal foramina with cleidocranial dysplasia1 test
  • Paris-Trousseau thrombocytopenia1 test
  • Parkinson disease1 test
  • Parkinson disease 11, autosomal dominant, susceptibility to1 test
  • Parkinson disease 13, autosomal dominant, susceptibility to3 tests
  • Parkinson disease 171 test
  • Parkinson disease 18, autosomal dominant, susceptibility to1 test
  • Parkinson disease 22, autosomal dominant1 test
  • Parkinson disease 5, autosomal dominant, susceptibility to2 tests
  • Parkinson disease, late-onset7 tests
  • Parkinsonian-pyramidal syndrome1 test
  • Parkinsonism-dystonia, infantile1 test
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Paroxysmal nonkinesigenic dyskinesia1 test
  • Paroxysmal nonkinesigenic dyskinesia 11 test
  • Partial androgen insensitivity syndrome2 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome2 tests
  • Partington syndrome4 tests
  • Patent ductus arteriosus 21 test
  • Patent ductus arteriosus 31 test
  • Patterned dystrophy of the retinal pigment epithelium1 test
  • Patterned macular dystrophy 11 test
  • Patterned macular dystrophy 22 tests
  • PCWH syndrome8 tests
  • Pearson syndrome1 test
  • Peeling skin syndrome 11 test
  • Peeling skin syndrome 41 test
  • Peeling skin syndrome 51 test
  • Peeling skin syndrome 61 test
  • PEHO syndrome1 test
  • Pelger-Huet-like anomaly and episodic fever with abdominal pain3 tests
  • Pelger-Huët anomaly5 tests
  • Pelizaeus-Merzbacher disease3 tests
  • Pelviscapular dysplasia4 tests
  • Pendred syndrome3 tests
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome3 tests
  • Periodontitis, aggressive 13 tests
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development1 test
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome2 tests
  • Periventricular heterotopia with microcephaly, autosomal recessive1 test
  • Periventricular nodular heterotopia 72 tests
  • Periventricular nodular heterotopia 91 test
  • Perlman syndrome5 tests
  • Permanent neonatal diabetes mellitus 12 tests
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome3 tests
  • Peroxisome biogenesis disorder1 test
  • Peroxisome biogenesis disorder 10A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 10B4 tests
  • Peroxisome biogenesis disorder 11A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 11B5 tests
  • Peroxisome biogenesis disorder 12A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 14B6 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)4 tests
  • Peroxisome biogenesis disorder 1B8 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 2B6 tests
  • Peroxisome biogenesis disorder 3A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 4B7 tests
  • Peroxisome biogenesis disorder 5A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 5B5 tests
  • Peroxisome biogenesis disorder 6A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 6B7 tests
  • Peroxisome biogenesis disorder 7A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 7B6 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)5 tests
  • Peroxisome biogenesis disorder 8B6 tests
  • Peroxisome biogenesis disorder 9B7 tests
  • Peroxisome biogenesis disorder type 3B4 tests
  • Perrault syndrome 16 tests
  • Perrault syndrome 22 tests
  • Perrault syndrome 34 tests
  • Perrault syndrome 42 tests
  • Perrault syndrome 57 tests
  • Perrault syndrome 61 test
  • Perry syndrome4 tests
  • Persistent fetal circulation syndrome4 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive4 tests
  • Persistent Mullerian duct syndrome2 tests
  • Peters plus syndrome5 tests
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome8 tests
  • Pfeiffer syndrome10 tests
  • PGM1-congenital disorder of glycosylation6 tests
  • PHARC syndrome4 tests
  • Phelan-McDermid syndrome3 tests
  • Phenylketonuria2 tests
  • Pheochromocytoma12 tests
  • Pheochromocytoma/paraganglioma syndrome 15 tests
  • Pheochromocytoma/paraganglioma syndrome 24 tests
  • Pheochromocytoma/paraganglioma syndrome 38 tests
  • Pheochromocytoma/paraganglioma syndrome 410 tests
  • Pheochromocytoma/paraganglioma syndrome 511 tests
  • Pheochromocytoma/paraganglioma syndrome 72 tests
  • PHGDH deficiency4 tests
  • PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1 test
  • Phosphate transport defect5 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial2 tests
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Phytanic acid storage disease3 tests
  • Pick disease4 tests
  • Piebaldism5 tests
  • Pierpont syndrome2 tests
  • Pierson syndrome2 tests
  • Pigmentary pallidal degeneration1 test
  • Pigmentary retinal dystrophy4 tests
  • Pigmented nodular adrenocortical disease, primary, 14 tests
  • Pigmented paravenous retinochoroidal atrophy2 tests
  • Pili torti-deafness syndrome2 tests
  • Pilomatrixoma3 tests
  • Pitt-Hopkins syndrome4 tests
  • Pitt-Hopkins-like syndrome 22 tests
  • Pituitary adenoma 3, multiple types1 test
  • Pituitary adenoma 5, multiple types1 test
  • Pituitary hormone deficiency, combined, 12 tests
  • Pituitary hormone deficiency, combined, 28 tests
  • Pituitary hormone deficiency, combined, 64 tests
  • Pityriasis rubra pilaris2 tests
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease5 tests
  • Platelet-type bleeding disorder 103 tests
  • Platelet-type bleeding disorder 112 tests
  • Platelet-type bleeding disorder 152 tests
  • Platelet-type bleeding disorder 162 tests
  • Platelet-type bleeding disorder 172 tests
  • Platelet-type bleeding disorder 181 test
  • Platelet-type bleeding disorder 192 tests
  • Platelet-type bleeding disorder 201 test
  • Platelet-type bleeding disorder 83 tests
  • Platelet-type bleeding disorder 92 tests
  • Platyspondylic dysplasia, Torrance type9 tests
  • Pleuropulmonary blastoma6 tests
  • PLIN1-related familial partial lipodystrophy1 test
  • PMM2-congenital disorder of glycosylation5 tests
  • Poikiloderma with neutropenia5 tests
  • Polycystic kidney disease1 test
  • Polycystic kidney disease 25 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease4 tests
  • Polycystic kidney disease 41 test
  • Polycystic kidney disease 52 tests
  • Polycystic kidney disease 6 with or without polycystic liver disease4 tests
  • Polycystic kidney disease 73 tests
  • Polycystic kidney disease, adult type2 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 23 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly1 test
  • Polycystic liver disease 11 test
  • Polycystic liver disease 3 with or without kidney cysts5 tests
  • Polycystic liver disease 4 with or without kidney cysts3 tests
  • Polydactyly of a biphalangeal thumb1 test
  • Polydactyly of a triphalangeal thumb2 tests
  • Polydactyly, postaxial, type A16 tests
  • Polydactyly, postaxial, type a101 test
  • Polydactyly, postaxial, type A61 test
  • Polydactyly, postaxial, type a71 test
  • Polydactyly, postaxial, type A81 test
  • Polydactyly, postaxial, type A91 test
  • Polydactyly-macrocephaly syndrome2 tests
  • Polyendocrine-polyneuropathy syndrome2 tests
  • Polyglandular autoimmune syndrome, type 17 tests
  • Polyglucosan body myopathy type 15 tests
  • Polyglucosan body myopathy type 23 tests
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
  • Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome3 tests
  • Polyposis syndrome, hereditary mixed, 25 tests
  • Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal5 tests
  • Polysyndactyly 47 tests
  • Pontocerebellar hypoplasia type 1A2 tests
  • Pontocerebellar hypoplasia type 1B2 tests
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 41 test
  • Pontocerebellar hypoplasia type 51 test
  • Pontocerebellar hypoplasia type 61 test
  • Pontocerebellar hypoplasia type 72 tests
  • Pontocerebellar hypoplasia, type 1E2 tests
  • Pontoneocerebellar hypoplasia1 test
  • Popliteal pterygium syndrome6 tests
  • Porencephaly 25 tests
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome3 tests
  • Porokeratosis 3, disseminated superficial actinic type3 tests
  • Porphobilinogen synthase deficiency1 test
  • Portal hypertension, noncirrhotic3 tests
  • Portal hypertension, noncirrhotic, 12 tests
  • Postaxial polydactyly1 test
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome6 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • Posterior polymorphous corneal dystrophy 12 tests
  • Posterior polymorphous corneal dystrophy 23 tests
  • Posterior polymorphous corneal dystrophy 31 test
  • Postmenopausal osteoporosis6 tests
  • Potassium-aggravated myotonia3 tests
  • PPARG-related familial partial lipodystrophy2 tests
  • Prader-Willi syndrome1 test
  • Prader-Willi-like syndrome2 tests
  • Predisposition to invasive fungal disease due to CARD9 deficiency2 tests
  • Preeclampsia/eclampsia 11 test
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Preimplantation embryonic lethality 21 test
  • Premature chromatid separation trait2 tests
  • Premature ovarian failure 12 tests
  • Premature ovarian failure 102 tests
  • Premature ovarian failure 121 test
  • Premature ovarian failure 152 tests
  • Premature ovarian failure 172 tests
  • Premature ovarian failure 32 tests
  • Premature ovarian failure 52 tests
  • Premature ovarian failure 62 tests
  • Premature ovarian failure 74 tests
  • Premature ovarian failure 82 tests
  • Premature ovarian failure 92 tests
  • Preterm premature rupture of membranes1 test
  • Pretibial dystrophic epidermolysis bullosa2 tests
  • Primary CD59 deficiency3 tests
  • Primary ciliary dyskinesia5 tests
  • Primary ciliary dyskinesia 104 tests
  • Primary ciliary dyskinesia 113 tests
  • Primary ciliary dyskinesia 123 tests
  • Primary ciliary dyskinesia 134 tests
  • Primary ciliary dyskinesia 144 tests
  • Primary ciliary dyskinesia 154 tests
  • Primary ciliary dyskinesia 164 tests
  • Primary ciliary dyskinesia 174 tests
  • Primary ciliary dyskinesia 184 tests
  • Primary ciliary dyskinesia 194 tests
  • Primary ciliary dyskinesia 24 tests
  • Primary ciliary dyskinesia 204 tests
  • Primary ciliary dyskinesia 213 tests
  • Primary ciliary dyskinesia 224 tests
  • Primary ciliary dyskinesia 234 tests
  • Primary ciliary dyskinesia 243 tests
  • Primary ciliary dyskinesia 254 tests
  • Primary ciliary dyskinesia 264 tests
  • Primary ciliary dyskinesia 273 tests
  • Primary ciliary dyskinesia 284 tests
  • Primary ciliary dyskinesia 293 tests
  • Primary ciliary dyskinesia 34 tests
  • Primary ciliary dyskinesia 304 tests
  • Primary ciliary dyskinesia 323 tests
  • Primary ciliary dyskinesia 334 tests
  • Primary ciliary dyskinesia 343 tests
  • Primary ciliary dyskinesia 354 tests
  • Primary ciliary dyskinesia 54 tests
  • Primary ciliary dyskinesia 64 tests
  • Primary ciliary dyskinesia 74 tests
  • Primary ciliary dyskinesia 94 tests
  • Primary coenzyme Q10 deficiency 82 tests
  • Primary dilated cardiomyopathy2 tests
  • Primary erythromelalgia1 test
  • Primary failure of tooth eruption2 tests
  • Primary familial polycythemia due to EPO receptor mutation2 tests
  • Primary hyperoxaluria type 32 tests
  • Primary hyperoxaluria, type I3 tests
  • Primary hyperoxaluria, type II2 tests
  • Primary hypomagnesemia3 tests
  • Primary immunodeficiency syndrome due to p14 deficiency3 tests
  • Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1 test
  • Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection2 tests
  • Primary intraosseous venous malformation1 test
  • Primary myelofibrosis2 tests
  • Primary open angle glaucoma2 tests
  • Primrose syndrome4 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome9 tests
  • Progeroid features-hepatocellular carcinoma predisposition syndrome1 test
  • Progressive bulbar palsy of childhood6 tests
  • Progressive demyelinating neuropathy with bilateral striatal necrosis2 tests
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency3 tests
  • Progressive external ophthalmoplegia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 16 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 24 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 39 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 47 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 56 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 17 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 25 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 36 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 45 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
  • Progressive familial heart block type IB2 tests
  • Progressive familial heart block, type 1A2 tests
  • Progressive familial intrahepatic cholestasis1 test
  • Progressive familial intrahepatic cholestasis type 12 tests
  • Progressive familial intrahepatic cholestasis type 23 tests
  • Progressive familial intrahepatic cholestasis type 33 tests
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome2 tests
  • Progressive myoclonic epilepsy type 31 test
  • Progressive myoclonic epilepsy type 61 test
  • Progressive myoclonic epilepsy type 91 test
  • Progressive myositis ossificans3 tests
  • Progressive osseous heteroplasia4 tests
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive retinal dystrophy due to retinol transport defect2 tests
  • Progressive sclerosing poliodystrophy9 tests
  • Progressive supranuclear palsy-parkinsonism syndrome2 tests
  • Prolidase deficiency1 test
  • Proliferative vitreoretinopathy2 tests
  • Properdin deficiency, X-linked1 test
  • Propionic acidemia4 tests
  • Propionyl-CoA carboxylase deficiency3 tests
  • Prostate cancer10 tests
  • Prostate cancer, hereditary, 22 tests
  • Prostate cancer, hereditary, 91 test
  • Prostate cancer/brain cancer susceptibility1 test
  • Proteasome-associated autoinflammatory syndrome 13 tests
  • Proteasome-associated autoinflammatory syndrome 22 tests
  • Proteasome-associated autoinflammatory syndrome 32 tests
  • Proteasome-associated autoinflammatory syndrome 41 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Proximal myopathy with extrapyramidal signs3 tests
  • Proximal symphalangism 1A3 tests
  • Prune belly syndrome1 test
  • PSAT deficiency2 tests
  • Pseudo von Willebrand disease1 test
  • Pseudo-Hurler polydystrophy2 tests
  • Pseudo-TORCH syndrome1 test
  • Pseudo-TORCH syndrome 22 tests
  • Pseudo-TORCH syndrome 32 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoaldosteronism, type IB1, autosomal recessive1 test
  • Pseudohypoparathyroidism2 tests
  • Pseudohypoparathyroidism type 1B5 tests
  • Pseudohypoparathyroidism type 1C5 tests
  • Pseudohypoparathyroidism type I A4 tests
  • Pseudopseudohypoparathyroidism4 tests
  • Pseudoxanthoma elasticum6 tests
  • Pseudoxanthoma elasticum, forme fruste4 tests
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis 23 tests
  • Psoriasis 7, susceptibility to1 test
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency3 tests
  • PULMONARY ALVEOLAR MICROLITHIASIS1 test
  • Pulmonary alveolar proteinosis with hypogammaglobulinemia1 test
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 72 tests
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 84 tests
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 92 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 16 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 24 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 35 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 44 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 52 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 61 test
  • Pulmonary hypertension, neonatal, susceptibility to1 test
  • Pulmonary hypertension, primary, 12 tests
  • Pulmonary hypertension, primary, 21 test
  • Pulmonary hypertension, primary, 32 tests
  • Pulmonary hypertension, primary, 43 tests
  • Pulmonary venoocclusive disease 12 tests
  • Pulp calcification1 test
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2 tests
  • Purine-nucleoside phosphorylase deficiency3 tests
  • PYCR1-related de Barsy syndrome1 test
  • Pyknodysostosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
  • Pyogenic bacterial infections due to MyD88 deficiency1 test
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy2 tests
  • Pyropoikilocytosis, hereditary1 test
  • Pyruvate carboxylase deficiency5 tests
  • Pyruvate dehydrogenase E1-alpha deficiency3 tests
  • Pyruvate dehydrogenase E1-beta deficiency1 test
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase E3 deficiency4 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency2 tests
  • Pyruvate dehydrogenase phosphatase deficiency1 test
  • Pyruvate kinase deficiency of red cells2 tests
  • Pyruvate kinase hyperactivity1 test
  • Quebec platelet disorder2 tests
  • RAB23-related Carpenter syndrome1 test
  • Rabson-Mendenhall syndrome2 tests
  • Radial aplasia-thrombocytopenia syndrome8 tests
  • Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome2 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 12 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 23 tests
  • Rafiq syndrome2 tests
  • Rahman syndrome1 test
  • Rapadilino syndrome4 tests
  • Rapp-Hodgkin syndrome5 tests
  • RASopathy1 test
  • RCBTB1-related retinopathy2 tests
  • Recessive dystrophic epidermolysis bullosa2 tests
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome11 tests
  • Recurrent Neisseria infections due to factor D deficiency1 test
  • Regional enteritis1 test
  • Regressive spondylometaphyseal dysplasia5 tests
  • Reis-Bucklers' corneal dystrophy1 test
  • Renal carnitine transport defect8 tests
  • Renal cell carcinoma3 tests
  • Renal coloboma syndrome4 tests
  • Renal cysts and diabetes syndrome12 tests
  • Renal dysplasia3 tests
  • Renal dysplasia, cystic, susceptibility to2 tests
  • Renal hypodysplasia/aplasia 11 test
  • Renal hypodysplasia/aplasia 21 test
  • Renal hypodysplasia/aplasia 32 tests
  • Renal hypodysplasia/aplasia 41 test
  • Renal hypomagnesemia 23 tests
  • Renal hypomagnesemia 42 tests
  • Renal hypomagnesemia 5 with ocular involvement4 tests
  • Renal hypomagnesemia 62 tests
  • Renal tubular acidosis1 test
  • Renal tubular acidosis with progressive nerve deafness3 tests
  • Renal tubular acidosis, distal, 4, with hemolytic anemia3 tests
  • Renal tubular dysgenesis of genetic origin1 test
  • Renal-hepatic-pancreatic dysplasia 11 test
  • Renal-hepatic-pancreatic dysplasia 22 tests
  • Renpenning syndrome3 tests
  • Respiratory papillomatosis, juvenile recurrent, congenital1 test
  • Reticular dysgenesis2 tests
  • Retinal arterial tortuosity5 tests
  • Retinal cone dystrophy 3A1 test
  • Retinal cone dystrophy 41 test
  • Retinal dystrophy and obesity1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies2 tests
  • Retinal dystrophy with or without macular staphyloma1 test
  • Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome2 tests
  • Retinal macular dystrophy type 21 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations5 tests
  • Retinitis pigmentosa3 tests
  • Retinitis pigmentosa 12 tests
  • Retinitis pigmentosa 101 test
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 123 tests
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 142 tests
  • Retinitis pigmentosa 172 tests
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 192 tests
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 203 tests
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 251 test
  • Retinitis pigmentosa 262 tests
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 282 tests
  • Retinitis pigmentosa 32 tests
  • Retinitis pigmentosa 302 tests
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 332 tests
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 382 tests
  • Retinitis pigmentosa 392 tests
  • Retinitis pigmentosa 42 tests
  • Retinitis pigmentosa 402 tests
  • Retinitis pigmentosa 412 tests
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 472 tests
  • Retinitis pigmentosa 482 tests
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 504 tests
  • Retinitis pigmentosa 512 tests
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 562 tests
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 592 tests
  • Retinitis pigmentosa 602 tests
  • Retinitis pigmentosa 612 tests
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 663 tests
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 73 tests
  • Retinitis pigmentosa 715 tests
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 731 test
  • Retinitis pigmentosa 741 test
  • Retinitis pigmentosa 763 tests
  • Retinitis pigmentosa 771 test
  • Retinitis pigmentosa 792 tests
  • Retinitis pigmentosa 802 tests
  • Retinitis pigmentosa 87 with choroidal involvement1 test
  • Retinitis pigmentosa and erythrocytic microcytosis2 tests
  • Retinitis pigmentosa with or without situs inversus1 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness2 tests
  • Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
  • Retinoblastoma5 tests
  • Rett syndrome3 tests
  • Revesz syndrome2 tests
  • Reynolds syndrome4 tests
  • RFT1-congenital disorder of glycosylation1 test
  • Rh-null, regulator type1 test
  • Rhabdoid tumor predisposition syndrome 16 tests
  • Rhabdoid tumor predisposition syndrome 210 tests
  • Rhabdomyolysis, susceptibility to, 11 test
  • Rhabdomyosarcoma, embryonal, 26 tests
  • Rheumatoid arthritis4 tests
  • Rhizomelic chondrodysplasia punctata type 17 tests
  • Rhizomelic chondrodysplasia punctata type 24 tests
  • Rhizomelic chondrodysplasia punctata type 33 tests
  • Rhizomelic chondrodysplasia punctata type 55 tests
  • Rhizomelic limb shortening with dysmorphic features1 test
  • RIDDLE syndrome1 test
  • Rienhoff syndrome6 tests
  • Right isomerism1 test
  • RIN2 syndrome2 tests
  • Ring dermoid of cornea4 tests
  • Rippling muscle disease 22 tests
  • Ritscher-Schinzel syndrome 11 test
  • Roberts-SC phocomelia syndrome9 tests
  • Robinow syndrome2 tests
  • Robinow-Sorauf syndrome3 tests
  • Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction2 tests
  • Roifman syndrome1 test
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome3 tests
  • Rothmund-Thomson syndrome2 tests
  • Rothmund-Thomson syndrome type 25 tests
  • Rothmund-Thomson syndrome type 31 test
  • Rotor syndrome1 test
  • Rubinstein-Taybi syndrome6 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations6 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency7 tests
  • Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome2 tests
  • Saethre-Chotzen syndrome9 tests
  • Saldino-Mainzer syndrome4 tests
  • Salla disease2 tests
  • Sandestig-stefanova syndrome1 test
  • Sandhoff disease5 tests
  • Sarcotubular myopathy2 tests
  • Scalp-ear-nipple syndrome2 tests
  • Scapuloperoneal spinal muscular atrophy3 tests
  • Schimke immuno-osseous dysplasia4 tests
  • Schinzel phocomelia syndrome5 tests
  • Schinzel-Giedion syndrome5 tests
  • Schizencephaly2 tests
  • Schizophrenia2 tests
  • Schizophrenia 153 tests
  • Schizophrenia 91 test
  • Schneckenbecken dysplasia1 test
  • Schnyder crystalline corneal dystrophy1 test
  • Schuurs-Hoeijmakers syndrome3 tests
  • Schwartz-Jampel syndrome type 12 tests
  • Schöpf-Schulz-Passarge syndrome1 test
  • Sclerosteosis 11 test
  • Sclerosteosis 22 tests
  • SCOTT SYNDROME2 tests
  • Seborrheic keratosis1 test
  • Seckel syndrome 11 test
  • Seckel syndrome 22 tests
  • Seckel syndrome 83 tests
  • Seckel syndrome 92 tests
  • Seizure1 test
  • Seizures, benign familial infantile, 22 tests
  • Seizures, benign familial infantile, 33 tests
  • Seizures, benign familial infantile, 52 tests
  • Seizures, benign familial neonatal, 11 test
  • Seizures, benign familial neonatal, 21 test
  • Seizures-scoliosis-macrocephaly syndrome2 tests
  • Selective pituitary resistance to thyroid hormone1 test
  • Sengers syndrome6 tests
  • Senior-Loken syndrome 12 tests
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 53 tests
  • Senior-Loken syndrome 64 tests
  • Senior-Loken syndrome 73 tests
  • Senior-Loken syndrome 81 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis7 tests
  • Septo-optic dysplasia sequence8 tests
  • SERKAL syndrome1 test
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome8 tests
  • Severe combined immunodeficiency disease2 tests
  • Severe combined immunodeficiency due to CARD11 deficiency4 tests
  • Severe combined immunodeficiency due to CARMIL2 deficiency1 test
  • Severe combined immunodeficiency due to CD70 deficiency1 test
  • Severe combined immunodeficiency due to CORO1A deficiency1 test
  • Severe combined immunodeficiency due to DCLRE1C deficiency2 tests
  • Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
  • Severe combined immunodeficiency due to IKK2 deficiency2 tests
  • Severe combined immunodeficiency due to LAT deficiency1 test
  • Severe combined immunodeficiency due to LCK deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency4 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive2 tests
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome1 test
  • Severe early-childhood-onset retinal dystrophy2 tests
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome3 tests
  • Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1 test
  • Severe intellectual disability-progressive spastic diplegia syndrome2 tests
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome2 tests
  • Severe myoclonic epilepsy in infancy4 tests
  • Severe neonatal-onset encephalopathy with microcephaly3 tests
  • Severe neurodegenerative syndrome with lipodystrophy2 tests
  • Severe X-linked mitochondrial encephalomyopathy2 tests
  • Severe X-linked myotubular myopathy1 test
  • Shashi-Pena syndrome2 tests
  • Short QT syndrome type 12 tests
  • Short QT syndrome type 23 tests
  • Short QT syndrome type 34 tests
  • Short stature due to growth hormone qualitative anomaly1 test
  • Short stature due to partial GHR deficiency1 test
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature with nonspecific skeletal abnormalities 11 test
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis1 test
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies2 tests
  • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome1 test
  • Short stature-optic atrophy-Pelger-Huët anomaly syndrome6 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome6 tests
  • SHORT syndrome5 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly7 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 14 with polydactyly4 tests
  • Short-rib thoracic dysplasia 15 with polydactyly1 test
  • Short-rib thoracic dysplasia 16 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 17 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 18 with polydactyly1 test
  • Short-rib thoracic dysplasia 19 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 20 with polydactyly2 tests
  • Short-rib thoracic dysplasia 6 with or without polydactyly6 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly7 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly4 tests
  • SHOX-related short stature1 test
  • Shprintzen-Goldberg syndrome3 tests
  • Shwachman syndrome2 tests
  • Shwachman-Diamond syndrome 13 tests
  • Shwachman-Diamond syndrome 24 tests
  • Sialic acid storage disease, severe infantile type3 tests
  • Sialidosis type 23 tests
  • Sialuria3 tests
  • Sick sinus syndrome 11 test
  • Sick sinus syndrome 2, autosomal dominant3 tests
  • Sick sinus syndrome 3, susceptibility to2 tests
  • Sideroblastic anemia 22 tests
  • Sideroblastic anemia 33 tests
  • Sifrim-Hitz-Weiss syndrome3 tests
  • Simpson-Golabi-Behmel syndrome type 110 tests
  • Simpson-Golabi-Behmel syndrome type 22 tests
  • SIN3A-related intellectual disability syndrome due to a point mutation2 tests
  • Singleton-Merten syndrome 14 tests
  • Sinoatrial node dysfunction and deafness2 tests
  • Sitosterolemia2 tests
  • Sitosterolemia 13 tests
  • Sitosterolemia 23 tests
  • Sjögren-Larsson syndrome2 tests
  • Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome3 tests
  • Skin creases, congenital symmetric circumferential, 21 test
  • SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN1 test
  • SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN1 test
  • SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 21 test
  • Skin/hair/eye pigmentation, variation in, 81 test
  • Skraban-Deardorff syndrome1 test
  • SLC35A1-congenital disorder of glycosylation1 test
  • SLC35A2-congenital disorder of glycosylation1 test
  • SLC39A8-CDG1 test
  • Small cell lung carcinoma2 tests
  • SMARCB1-related schwannomatosis6 tests
  • Smith-Lemli-Opitz syndrome15 tests
  • Smith-Magenis syndrome5 tests
  • Smith-McCort dysplasia1 test
  • Smith-McCort dysplasia 12 tests
  • SMOKING AS A QUANTITATIVE TRAIT LOCUS 31 test
  • Sneddon syndrome3 tests
  • Snijders Blok-Campeau syndrome2 tests
  • Snowflake vitreoretinal degeneration2 tests
  • Sodium serum level quantitative trait locus 12 tests
  • Solitary median maxillary central incisor syndrome5 tests
  • Soluble interleukin-6 receptor, serum level of, quantitative trait locus1 test
  • Somatotroph adenoma3 tests
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome6 tests
  • Southeast Asian ovalocytosis1 test
  • Spastic ataxia 13 tests
  • Spastic ataxia 10, autosomal recessive2 tests
  • Spastic ataxia 21 test
  • Spastic ataxia 32 tests
  • Spastic ataxia 42 tests
  • Spastic ataxia 53 tests
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2 tests
  • Spastic paraplegia 79A, autosomal dominant, with ataxia1 test
  • Spastic paraplegia 80, autosomal dominant1 test
  • Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia1 test
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity2 tests
  • Spastic paraplegia, optic atropy, and neuropathy1 test
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome1 test
  • Spasticity-ataxia-gait anomalies syndrome3 tests
  • Specific granule deficiency 13 tests
  • Specific granule deficiency 23 tests
  • Spermatogenic failure 101 test
  • Spermatogenic failure 111 test
  • Spermatogenic failure 121 test
  • Spermatogenic failure 131 test
  • Spermatogenic failure 141 test
  • Spermatogenic failure 152 tests
  • Spermatogenic failure 161 test
  • Spermatogenic failure 171 test
  • Spermatogenic failure 181 test
  • Spermatogenic failure 191 test
  • Spermatogenic failure 201 test
  • Spermatogenic failure 211 test
  • Spermatogenic failure 231 test
  • Spermatogenic failure 241 test
  • Spermatogenic failure 251 test
  • Spermatogenic failure 271 test
  • Spermatogenic failure 283 tests
  • Spermatogenic failure 31 test
  • Spermatogenic failure 311 test
  • Spermatogenic failure 321 test
  • Spermatogenic failure 331 test
  • Spermatogenic failure 341 test
  • Spermatogenic failure 351 test
  • Spermatogenic failure 361 test
  • Spermatogenic failure 371 test
  • Spermatogenic failure 381 test
  • Spermatogenic failure 391 test
  • Spermatogenic failure 41 test
  • Spermatogenic failure 401 test
  • Spermatogenic failure 411 test
  • Spermatogenic failure 421 test
  • Spermatogenic failure 434 tests
  • Spermatogenic failure 441 test
  • Spermatogenic failure 451 test
  • Spermatogenic failure 461 test
  • Spermatogenic failure 472 tests
  • Spermatogenic failure 481 test
  • Spermatogenic failure 491 test
  • Spermatogenic failure 502 tests
  • Spermatogenic failure 511 test
  • Spermatogenic failure 521 test
  • Spermatogenic failure 531 test
  • Spermatogenic failure 561 test
  • Spermatogenic failure 571 test
  • Spermatogenic failure 581 test
  • Spermatogenic failure 61 test
  • Spermatogenic failure 71 test
  • Spermatogenic failure 721 test
  • Spermatogenic failure 83 tests
  • Spermatogenic failure, X-linked, 21 test
  • Spermatogenic failure, X-linked, 31 test
  • Spermatogenic failure, Y-linked, 11 test
  • Spermatogenic failure, Y-linked, 21 test
  • Sphingolipid activator protein 1 deficiency3 tests
  • Spinal muscular atrophy with congenital bone fractures 12 tests
  • Spinal muscular atrophy with congenital bone fractures 22 tests
  • Spinal muscular atrophy with lower extremity predominance1 test
  • Spinal muscular atrophy, distal, autosomal recessive, 61 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome4 tests
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia 461 test
  • Spinocerebellar ataxia 491 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 141 test
  • Spinocerebellar ataxia type 15/163 tests
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 23 tests
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 282 tests
  • Spinocerebellar ataxia type 293 tests
  • Spinocerebellar ataxia type 342 tests
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 411 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 63 tests
  • Spinocerebellar ataxia, autosomal recessive 251 test
  • Spinocerebellar ataxia, autosomal recessive 311 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 25 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 33 tests
  • Splenomegaly1 test
  • Split hand-foot malformation 12 tests
  • Split hand-foot malformation 1 with sensorineural hearing loss2 tests
  • Split hand-foot malformation 43 tests
  • Split hand-foot malformation 61 test
  • Split-foot malformation-mesoaxial polydactyly syndrome2 tests
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylo-ocular syndrome4 tests
  • Spondylocarpotarsal synostosis syndrome2 tests
  • Spondylocostal dysostosis 1, autosomal recessive3 tests
  • Spondylocostal dysostosis 2, autosomal recessive2 tests
  • Spondylocostal dysostosis 3, autosomal recessive2 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondylocostal dysostosis 52 tests
  • Spondylocostal dysostosis 6, autosomal recessive3 tests
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
  • Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
  • Spondyloepimetaphyseal dysplasia, Bieganski type1 test
  • Spondyloepimetaphyseal dysplasia, di rocco type1 test
  • Spondyloepimetaphyseal dysplasia, Maroteaux type2 tests
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type2 tests
  • Spondyloepimetaphyseal dysplasia, Strudwick type9 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia1 test
  • Spondyloepiphyseal dysplasia congenita9 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondyloepiphyseal dysplasia with metatarsal shortening11 tests
  • Spondyloepiphyseal dysplasia, Stanescu type8 tests
  • Spondylometaphyseal dysplasia1 test
  • Spondylometaphyseal dysplasia, Kozlowski type2 tests
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome1 test
  • Spondyloperipheral dysplasia10 tests
  • Spongy degeneration of central nervous system4 tests
  • Squalene synthase deficiency3 tests
  • SRD5A3-congenital disorder of glycosylation2 tests
  • SSR4-congenital disorder of glycosylation1 test
  • Stankiewicz-Isidor syndrome1 test
  • Stapes ankylosis with broad thumbs and toes3 tests
  • Stargardt disease2 tests
  • Stargardt disease 33 tests
  • Stargardt disease 42 tests
  • STAT3-related early-onset multisystem autoimmune disease7 tests
  • Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
  • Sterol carrier protein 2 deficiency4 tests
  • Stickler syndrome2 tests
  • Stickler syndrome type 111 tests
  • Stickler syndrome type 28 tests
  • Stickler syndrome, type 46 tests
  • Stickler syndrome, type 57 tests
  • Stickler syndrome, type I, nonsyndromic ocular12 tests
  • Stiff skin syndrome8 tests
  • STING-associated vasculopathy with onset in infancy1 test
  • Stormorken syndrome5 tests
  • Striatal degeneration, autosomal dominant 21 test
  • Stroke, susceptibility to, 11 test
  • Stromme syndrome6 tests
  • STT3A-congenital disorder of glycosylation1 test
  • STT3B-congenital disorder of glycosylation1 test
  • Stuve-Wiedemann syndrome 21 test
  • Stüve-Wiedemann syndrome 12 tests
  • Subcutaneous panniculitis-like T-cell lymphoma2 tests
  • Succinate-semialdehyde dehydrogenase deficiency2 tests
  • Succinyl-CoA acetoacetate transferase deficiency2 tests
  • Succinylcholine response1 test
  • Sucrase-isomaltase deficiency1 test
  • Sudden cardiac failure, alcohol-induced2 tests
  • Sudden cardiac failure, infantile2 tests
  • SUDDEN INFANT DEATH SYNDROME1 test
  • Sudden infant death-dysgenesis of the testes syndrome2 tests
  • Sulfide quinone oxidoreductase deficiency1 test
  • Sulfite oxidase deficiency1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A7 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
  • Sulfocysteinuria1 test
  • Supranuclear palsy, progressive, 12 tests
  • Supravalvar aortic stenosis3 tests
  • Surfactant metabolism dysfunction, pulmonary, 13 tests
  • Surfactant metabolism dysfunction, pulmonary, 23 tests
  • Surfactant metabolism dysfunction, pulmonary, 43 tests
  • Surfactant metabolism dysfunction, pulmonary, 53 tests
  • Susceptibility to HIV infection4 tests
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
  • Sweeney-Cox syndrome3 tests
  • Symmetrical dyschromatosis of extremities1 test
  • Symphalangism, proximal, 1B2 tests
  • Symphalangism-brachydactyly syndrome3 tests
  • Syndactyly type 34 tests
  • Syndactyly type 41 test
  • Syndactyly type 53 tests
  • Syndactyly type 81 test
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome4 tests
  • Syndromic microphthalmia type 56 tests
  • Syndromic multisystem autoimmune disease due to ITCH deficiency3 tests
  • Syndromic X-linked intellectual disability 142 tests
  • Syndromic X-linked intellectual disability Claes-Jensen type2 tests
  • Syndromic X-linked intellectual disability Lubs type3 tests
  • Syndromic X-linked intellectual disability Najm type2 tests
  • Syndromic X-linked intellectual disability Siderius type1 test
  • Syndromic X-linked intellectual disability Snyder type5 tests
  • Synpolydactyly4 tests
  • Synpolydactyly type 23 tests
  • Systemic lupus erythematosus5 tests
  • Systemic lupus erythematosus, susceptibility to, 92 tests
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
  • T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1 test
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome3 tests
  • Tangier disease2 tests
  • Tarsal-carpal coalition syndrome3 tests
  • Tatton-Brown-Rahman overgrowth syndrome4 tests
  • Tay-Sachs disease7 tests
  • Tay-Sachs disease, variant AB5 tests
  • TCF12-related craniosynostosis3 tests
  • Teebi hypertelorism syndrome2 tests
  • Telangiectasia, hereditary hemorrhagic, type 13 tests
  • Telangiectasia, hereditary hemorrhagic, type 24 tests
  • Telangiectasia, hereditary hemorrhagic, type 54 tests
  • Temple-Baraitser syndrome2 tests
  • Temtamy preaxial brachydactyly syndrome2 tests
  • Temtamy syndrome3 tests
  • Tenorio syndrome2 tests
  • Terminal osseous dysplasia-pigmentary defects syndrome8 tests
  • Testicular anomalies with or without congenital heart disease8 tests
  • Testosterone 17-beta-dehydrogenase deficiency5 tests
  • Tetraamelia syndrome 11 test
  • Tetraamelia syndrome 21 test
  • Tetralogy of Fallot18 tests
  • TFRC-related combined immunodeficiency1 test
  • Thanatophoric dysplasia type 111 tests
  • Thanatophoric dysplasia, type 211 tests
  • Thiel-Behnke corneal dystrophy1 test
  • Thrombocythemia 13 tests
  • Thrombocythemia 21 test
  • Thrombocythemia 32 tests
  • Thrombocytopenia 16 tests
  • Thrombocytopenia 101 test
  • Thrombocytopenia 12 with or without myopathy1 test
  • Thrombocytopenia 13, syndromic1 test
  • Thrombocytopenia 25 tests
  • Thrombocytopenia 32 tests
  • Thrombocytopenia 42 tests
  • Thrombocytopenia 55 tests
  • Thrombocytopenia 61 test
  • Thrombocytopenia 91 test
  • Thrombocytopenia, anemia, and myelofibrosis1 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia4 tests
  • Thrombomodulin-related bleeding disorder2 tests
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to protein C deficiency, autosomal dominant3 tests
  • Thrombophilia due to protein C deficiency, autosomal recessive3 tests
  • Thrombophilia due to protein S deficiency, autosomal dominant3 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive3 tests
  • Thrombophilia due to thrombin defect2 tests
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
  • Thromboxane synthetase deficiency2 tests
  • Thyroglobulin synthesis defect1 test
  • Thyroid cancer, nonmedullary, 11 test
  • Thyroid cancer, nonmedullary, 29 tests
  • Thyroid cancer, nonmedullary, 51 test
  • Thyroid dyshormonogenesis 11 test
  • Thyroid dyshormonogenesis 62 tests
  • Thyroid hormone metabolism, abnormal1 test
  • Thyroid hormone resistance syndrome1 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Tibia, hypoplasia or aplasia of, with polydactyly1 test
  • Tibial muscular dystrophy1 test
  • Tietz syndrome4 tests
  • Timothy syndrome6 tests
  • TMEM165-congenital disorder of glycosylation1 test
  • TMEM199-CDG1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)4 tests
  • Tolchin-Le Caignec syndrome1 test
  • Tooth agenesis, selective, 12 tests
  • Tooth agenesis, selective, 32 tests
  • Tooth agenesis, selective, 42 tests
  • Tooth agenesis, selective, X-linked, 12 tests
  • Toriello-Lacassie-Droste syndrome9 tests
  • Torsion dystonia 43 tests
  • Torsion dystonia 61 test
  • Townes-Brocks syndrome 17 tests
  • Townes-Brocks syndrome 21 test
  • Transcobalamin II deficiency4 tests
  • Transient bullous dermolysis of the newborn2 tests
  • Transient infantile hypertriglyceridemia and hepatosteatosis1 test
  • Transient myeloproliferative syndrome2 tests
  • Treacher Collins syndrome 15 tests
  • Treacher Collins syndrome 24 tests
  • Treacher Collins syndrome 34 tests
  • Tremor, hereditary essential, 51 test
  • Trichoepithelioma, multiple familial, 11 test
  • Trichohepatoenteric syndrome 12 tests
  • Trichohepatoenteric syndrome 22 tests
  • Trichothiodystrophy 1, photosensitive2 tests
  • Trichothiodystrophy 2, photosensitive2 tests
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy 4, nonphotosensitive1 test
  • Trichothiodystrophy 6, nonphotosensitive1 test
  • Trichothiodystrophy 7, nonphotosensitive1 test
  • Trichothiodystrophy 8, nonphotosensitive2 tests
  • Triglyceride storage disease with ichthyosis4 tests
  • Trigonocephaly 18 tests
  • Trigonocephaly 23 tests
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency1 test
  • Tropical pancreatitis1 test
  • Troyer syndrome2 tests
  • Tuberous sclerosis 111 tests
  • Tuberous sclerosis 213 tests
  • Tumor predisposition syndrome 22 tests
  • Tumor predisposition syndrome 36 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 11 test
  • Tumoral calcinosis, hyperphosphatemic, familial, 31 test
  • Turcot syndrome6 tests
  • TWIST1-related craniosynostosis6 tests
  • Type 1 diabetes mellitus 103 tests
  • Type 1 diabetes mellitus 123 tests
  • Type 1 diabetes mellitus 21 test
  • Type 1 diabetes mellitus 201 test
  • Type 2 diabetes mellitus13 tests
  • Type A2 brachydactyly5 tests
  • Type I complement component 8 deficiency1 test
  • Type II complement component 8 deficiency1 test
  • Tyrosinase-positive oculocutaneous albinism1 test
  • Tyrosinemia type I3 tests
  • Tyrosinemia type II1 test
  • Tyrosinemia type III1 test
  • UDPglucose-4-epimerase deficiency2 tests
  • Ullrich congenital muscular dystrophy 1A2 tests
  • Ullrich congenital muscular dystrophy 21 test
  • Ulnar-mammary syndrome3 tests
  • Upshaw-Schulman syndrome2 tests
  • Urinary bladder, atony of1 test
  • Urofacial syndrome 21 test
  • Urofacial syndrome type 11 test
  • Uruguay Faciocardiomusculoskeletal syndrome1 test
  • Usher syndrome1 test
  • Usher syndrome type 12 tests
  • Usher syndrome type 1C2 tests
  • Usher syndrome type 1D2 tests
  • Usher syndrome type 1F2 tests
  • Usher syndrome type 1G2 tests
  • Usher syndrome type 1J2 tests
  • Usher syndrome type 2A2 tests
  • Usher syndrome type 2C2 tests
  • Usher syndrome type 2D2 tests
  • Usher syndrome type 32 tests
  • Usher syndrome type 3B2 tests
  • Usher syndrome, type 42 tests
  • Uveal coloboma-cleft lip and palate-intellectual disability2 tests
  • Uveal melanoma1 test
  • VACTERL association, X-linked, with or without hydrocephalus4 tests
  • VACTERL with hydrocephalus2 tests
  • Van der Woude syndrome 16 tests
  • Van der Woude syndrome 22 tests
  • Van Maldergem syndrome 11 test
  • Van Maldergem syndrome 26 tests
  • Vanishing white matter disease4 tests
  • Variegate porphyria1 test
  • Vas deferens, congenital bilateral aplasia of, X-linked1 test
  • Vasculitis due to ADA2 deficiency3 tests
  • Velocardiofacial syndrome7 tests
  • Ventricular fibrillation, paroxysmal familial, type 11 test
  • Ventricular septal defect 16 tests
  • Ventricular septal defect 21 test
  • Ventricular septal defect 35 tests
  • Ventriculomegaly-cystic kidney disease3 tests
  • Vertebral, cardiac, renal, and limb defects syndrome 11 test
  • Vertebral, cardiac, renal, and limb defects syndrome 22 tests
  • Vertebral, cardiac, renal, and limb defects syndrome 31 test
  • Very long chain acyl-CoA dehydrogenase deficiency8 tests
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Vesicoureteral reflux 83 tests
  • VEXAS syndrome1 test
  • Vici syndrome5 tests
  • Visceral heterotaxy1 test
  • Visceral myopathy 12 tests
  • Visceral myopathy 21 test
  • Visceral neuropathy, familial, 1, autosomal recessive1 test
  • VISS syndrome1 test
  • Vissers-Bodmer syndrome1 test
  • Vitamin D hydroxylation-deficient rickets, type 1B1 test
  • Vitamin D-dependent rickets type II with alopecia3 tests
  • Vitamin D-dependent rickets, type 1A1 test
  • Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
  • Vitelliform macular dystrophy3 tests
  • Vitelliform macular dystrophy 21 test
  • Vitelliform macular dystrophy 31 test
  • Vitelliform macular dystrophy 42 tests
  • Vitiligo-associated multiple autoimmune disease susceptibility 11 test
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia2 tests
  • Von Hippel-Lindau syndrome10 tests
  • von Willebrand disease type 12 tests
  • von Willebrand disease type 22 tests
  • von Willebrand disease type 32 tests
  • Waardenburg syndrome type 14 tests
  • Waardenburg syndrome type 2A6 tests
  • Waardenburg syndrome type 2D2 tests
  • Waardenburg syndrome type 2E4 tests
  • Waardenburg syndrome type 34 tests
  • Waardenburg syndrome type 4A3 tests
  • Waardenburg syndrome type 4B3 tests
  • Waardenburg syndrome type 4C3 tests
  • Waardenburg syndrome, IIa 2F1 test
  • Wagner disease4 tests
  • Warburg micro syndrome1 test
  • Warburg micro syndrome 12 tests
  • Warburg micro syndrome 22 tests
  • Warburg micro syndrome 32 tests
  • Warburg micro syndrome 43 tests
  • Warburg-cinotti syndrome1 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
  • Weaver syndrome3 tests
  • Webb-Dattani syndrome1 test
  • Weill-Marchesani 4 syndrome, recessive1 test
  • Weill-Marchesani syndrome 13 tests
  • Weill-Marchesani syndrome 2, dominant10 tests
  • Weill-Marchesani syndrome 34 tests
  • Weiss-Kruszka syndrome1 test
  • Welander distal myopathy1 test
  • Werdnig-Hoffmann disease1 test
  • Werner syndrome5 tests
  • WHIM syndrome 12 tests
  • WHIM syndrome 23 tests
  • Wieacker-Wolff syndrome2 tests
  • Wieacker-Wolff syndrome, female-restricted1 test
  • Wiedemann-Steiner syndrome7 tests
  • Williams syndrome1 test
  • Wilms tumor 119 tests
  • Wilms tumor 64 tests
  • Wilson disease6 tests
  • Winchester syndrome1 test
  • Wiskott-Aldrich syndrome8 tests
  • Wiskott-Aldrich syndrome 24 tests
  • Wolcott-Rallison dysplasia1 test
  • Wolff-Parkinson-White pattern4 tests
  • Wolfram syndrome1 test
  • Wolfram syndrome 16 tests
  • Wolfram syndrome 24 tests
  • Wolfram-like syndrome6 tests
  • Wolman disease3 tests
  • Woodhouse-Sakati syndrome4 tests
  • Woolly hair-skin fragility syndrome1 test
  • Wooly hair-palmoplantar keratoderma syndrome1 test
  • Worth disease2 tests
  • Wrinkly skin syndrome3 tests
  • X-linked agammaglobulinemia5 tests
  • X-linked agammaglobulinemia with growth hormone deficiency3 tests
  • X-linked Alport syndrome3 tests
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
  • X-linked chondrodysplasia punctata 11 test
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome2 tests
  • X-linked complicated corpus callosum dysgenesis1 test
  • X-linked cone-rod dystrophy 11 test
  • X-linked cone-rod dystrophy 32 tests
  • X-linked congenital hemolytic anemia1 test
  • X-linked distal spinal muscular atrophy type 36 tests
  • X-linked dominant chondrodysplasia, Chassaing-Lacombe type1 test
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia5 tests
  • X-linked dystonia-parkinsonism2 tests
  • X-linked Emery-Dreifuss muscular dystrophy2 tests
  • X-linked erythropoietic protoporphyria3 tests
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome1 test
  • X-linked hydrocephalus syndrome2 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia6 tests
  • X-linked intellectual disability Cabezas type2 tests
  • X-linked intellectual disability with marfanoid habitus7 tests
  • X-linked intellectual disability, Cantagrel type1 test
  • X-linked intellectual disability, Stocco dos Santos type1 test
  • X-linked intellectual disability, van Esch type2 tests
  • X-linked intellectual disability-cerebellar hypoplasia syndrome3 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome3 tests
  • X-linked lissencephaly with abnormal genitalia5 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency5 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency5 tests
  • X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency3 tests
  • X-linked mixed hearing loss with perilymphatic gusher1 test
  • X-linked myopathy with excessive autophagy2 tests
  • X-linked myopathy with postural muscle atrophy5 tests
  • X-linked Opitz G/BBB syndrome6 tests
  • X-linked parkinsonism-spasticity syndrome1 test
  • X-linked recessive nephrolithiasis with renal failure2 tests
  • X-linked reticulate pigmentary disorder2 tests
  • X-linked scapuloperoneal muscular dystrophy2 tests
  • X-linked severe combined immunodeficiency5 tests
  • X-linked severe congenital neutropenia6 tests
  • X-linked sideroblastic anemia 12 tests
  • X-linked sideroblastic anemia with ataxia2 tests
  • X-linked spondyloepimetaphyseal dysplasia2 tests
  • Xeroderma pigmentosum group A2 tests
  • Xeroderma pigmentosum group B3 tests
  • Xeroderma pigmentosum variant type2 tests
  • Xeroderma pigmentosum, group C2 tests
  • Xeroderma pigmentosum, group D2 tests
  • Xeroderma pigmentosum, group E2 tests
  • Xeroderma pigmentosum, group F5 tests
  • Xeroderma pigmentosum, group G2 tests
  • Xerosis and growth failure with immune and pulmonary dysfunction syndrome1 test
  • XFE progeroid syndrome5 tests
  • Yao syndrome2 tests
  • Yunis-Varon syndrome6 tests
  • Zellweger spectrum disorders6 tests
  • Zimmermann-Laband syndrome 12 tests
  • ZTTK syndrome2 tests

List of services

  • Prenatal testing
  • Custom Sequence Analysis
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  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: 100,200,300
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Licenses

  • CA - California Department of Public Health CDPH, Number: COS 00800542, Expiration date: 2026-10-06
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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.