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GTR Home > Laboratories > Intergen

Intergen

  • Intergen, INTERGEN, Intergen
  • Intergen Genetics and Rare Diseases Diagnosis Center (Intergen)
  • Mustafa Kemal Mh 2119 sk No:5
  • Ankara, Ankara, Turkey 06510
  • Phone: Turkey
    Fax: Turkey
    Email: info@intergen.com.tr
  • Website: http://www.intergen.com.tr

GTR Lab ID: 320129, Last updated:2022-05-14
Annual Review past due read more

Personnel

Conditions and tests

  • 11p partial monosomy syndrome2 tests
  • 15q11q13 microduplication syndrome2 tests
  • 2-aminoadipic 2-oxoadipic aciduria2 tests
  • 2-hydroxyglutaric aciduria2 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency2 tests
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency2 tests
  • 3-methylglutaconic aciduria type 12 tests
  • 3-Methylglutaconic aciduria type 22 tests
  • 3-Methylglutaconic aciduria type 32 tests
  • 3-methylglutaconic aciduria type 52 tests
  • 3-methylglutaconic aciduria type 82 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
  • 3-methylglutaconic aciduria, type VIIB2 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2 tests
  • 3M syndrome 12 tests
  • 3M syndrome 22 tests
  • 3M syndrome 32 tests
  • 3MC syndrome 12 tests
  • 3MC syndrome 22 tests
  • 3MC syndrome 31 test
  • 3p- syndrome2 tests
  • 46,XX ovarian dysgenesis-short stature syndrome1 test
  • 46,XX sex reversal 14 tests
  • 46,XX sex reversal 32 tests
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency6 tests
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome2 tests
  • 46,XY sex reversal 12 tests
  • 46,XY sex reversal 23 tests
  • 46,XY sex reversal 34 tests
  • 46,XY sex reversal 42 tests
  • 46,XY sex reversal 52 tests
  • 46,XY sex reversal 62 tests
  • 46,XY sex reversal 72 tests
  • 46,XY sex reversal 93 tests
  • 5-Oxoprolinase deficiency2 tests
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency2 tests
  • 7q11.23 microduplication syndrome2 tests
  • 8q22.1 microdeletion syndrome1 test
  • 8q24.3 microdeletion syndrome2 tests
  • Aarskog syndrome6 tests
  • ABCD syndrome4 tests
  • Abdominal obesity-metabolic syndrome 31 test
  • Abetalipoproteinaemia2 tests
  • Ablepharon macrostomia syndrome1 test
  • Abortive cerebellar ataxia8 tests
  • ABri amyloidosis1 test
  • Abruzzo-Erickson syndrome2 tests
  • Absence seizure1 test
  • Acatalasia2 tests
  • Accelerated tumor formation, susceptibility to2 tests
  • Acetyl-CoA acetyltransferase-2 deficiency2 tests
  • Acetyl-CoA: carboxylase deficiency2 tests
  • Acheiropodia3 tests
  • Achondrogenesis type II4 tests
  • Achondrogenesis, type IA2 tests
  • Achondrogenesis, type IB2 tests
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Achromatopsia 71 test
  • Acid phosphatase deficiency2 tests
  • 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 vera1 test
  • Acral peeling skin syndrome1 test
  • Acrocallosal syndrome4 tests
  • Acrocapitofemoral dysplasia2 tests
  • Acrocephalosyndactyly type I6 tests
  • Acrodysostosis 1 with or without hormone resistance3 tests
  • Acrodysostosis 2 with or without hormone resistance2 tests
  • Acroerythrokeratoderma1 test
  • Acrofacial dysostosis Cincinnati type2 tests
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromelic frontonasal dysostosis2 tests
  • Acromesomelic dysplasia 1, Maroteaux type2 tests
  • Acromesomelic dysplasia 2B2 tests
  • Acromesomelic dysplasia 2C, Hunter-Thompson type2 tests
  • Acromesomelic dysplasia 32 tests
  • Acromicric dysplasia4 tests
  • Acroosteolysis-keloid-like lesions-premature aging syndrome1 test
  • ACTH-independent macronodular adrenal hyperplasia 21 test
  • Actin accumulation myopathy4 tests
  • Action myoclonus-renal failure syndrome2 tests
  • Acute febrile mucocutaneous lymph node syndrome1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
  • Acute intermittent porphyria8 tests
  • Acute lymphoid leukemia7 tests
  • Acute myeloid leukemia27 tests
  • Acute promyelocytic leukemia2 tests
  • Acyl-CoA dehydrogenase 9 deficiency2 tests
  • Acyl-CoA oxidase deficiency2 tests
  • Adams-Oliver syndrome 12 tests
  • Adams-Oliver syndrome 22 tests
  • Adams-Oliver syndrome 32 tests
  • Adams-Oliver syndrome 42 tests
  • Adams-Oliver syndrome 52 tests
  • Adams-Oliver syndrome 62 tests
  • ADan amyloidosis1 test
  • Adenine phosphoribosyltransferase deficiency3 tests
  • Adenosine kinase deficiency2 tests
  • Adenylosuccinate lyase deficiency2 tests
  • Adermatoglyphia1 test
  • Adiponectin deficiency1 test
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
  • Adrenocortical carcinoma, hereditary2 tests
  • Adrenoleukodystrophy4 tests
  • Adult hypophosphatasia3 tests
  • Adult neuronal ceroid lipofuscinosis4 tests
  • Adult polyglucosan body disease2 tests
  • ADULT syndrome2 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy4 tests
  • Adult-onset foveomacular vitelliform dystrophy2 tests
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant2 tests
  • Advanced sleep phase syndrome 11 test
  • Advanced sleep phase syndrome 21 test
  • Advanced sleep phase syndrome 31 test
  • Afibrinogenemia4 tests
  • Agammaglobulinemia 2, autosomal recessive2 tests
  • Agammaglobulinemia 3, autosomal recessive2 tests
  • Agammaglobulinemia 4, autosomal recessive2 tests
  • Agammaglobulinemia 5, autosomal dominant2 tests
  • Agammaglobulinemia 6, autosomal recessive2 tests
  • Agammaglobulinemia 7, autosomal recessive2 tests
  • Agammaglobulinemia 8, autosomal dominant2 tests
  • Age related macular degeneration 16 tests
  • Age related macular degeneration 111 test
  • Age related macular degeneration 122 tests
  • Age related macular degeneration 132 tests
  • Age related macular degeneration 142 tests
  • Age related macular degeneration 151 test
  • Age related macular degeneration 22 tests
  • Age related macular degeneration 42 tests
  • Age related macular degeneration 51 test
  • Age related macular degeneration 61 test
  • Age related macular degeneration 71 test
  • Age related macular degeneration 81 test
  • Age related macular degeneration 91 test
  • Agenesis of the corpus callosum with peripheral neuropathy2 tests
  • Agnathia-otocephaly complex2 tests
  • AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2 tests
  • AICA-ribosiduria2 tests
  • Aicardi-Goutieres syndrome 15 tests
  • Aicardi-Goutieres syndrome 24 tests
  • Aicardi-Goutieres syndrome 34 tests
  • Aicardi-Goutieres syndrome 44 tests
  • Aicardi-Goutieres syndrome 54 tests
  • Aicardi-Goutieres syndrome 62 tests
  • Aicardi-Goutieres syndrome 72 tests
  • Al-Raqad syndrome2 tests
  • Alacrima, achalasia, and intellectual disability syndrome2 tests
  • Alagille syndrome due to a JAG1 point mutation6 tests
  • Alagille syndrome due to a NOTCH2 point mutation2 tests
  • Alazami-Yuan syndrome2 tests
  • Alcohol dependence6 tests
  • Alcohol sensitivity, acute4 tests
  • ALDH18A1-related de Barsy syndrome2 tests
  • Aldosterone-producing adenoma with seizures and neurological abnormalities2 tests
  • Alexander disease2 tests
  • ALG1-congenital disorder of glycosylation2 tests
  • ALG11-congenital disorder of glycosylation2 tests
  • ALG12-congenital disorder of glycosylation2 tests
  • ALG2-congenital disorder of glycosylation2 tests
  • ALG3-congenital disorder of glycosylation2 tests
  • ALG6-congenital disorder of glycosylation 1C2 tests
  • ALG8 congenital disorder of glycosylation2 tests
  • ALG9 congenital disorder of glycosylation3 tests
  • Allan-Herndon-Dudley syndrome2 tests
  • Allergic rhinitis1 test
  • Alopecia universalis congenita1 test
  • alpha Thalassemia8 tests
  • Alpha thalassemia-intellectual disability syndrome type 12 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome4 tests
  • Alpha-1-antitrypsin deficiency6 tests
  • Alpha-2-macroglobulin deficiency2 tests
  • Alpha-2-plasmin inhibitor deficiency1 test
  • Alpha-fetoprotein deficiency2 tests
  • Alpha-methylacyl-CoA racemase deficiency2 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 14 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 22 tests
  • Alstrom syndrome2 tests
  • Alternating hemiplegia of childhood 12 tests
  • Alternating hemiplegia of childhood 24 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment4 tests
  • Alveolar rhabdomyosarcoma4 tests
  • Alveolar soft part sarcoma1 test
  • Alzheimer disease10 tests
  • Alzheimer disease 181 test
  • Alzheimer disease 21 test
  • Alzheimer disease 36 tests
  • Alzheimer disease 41 test
  • Alzheimer disease 91 test
  • Amelocerebrohypohidrotic syndrome2 tests
  • 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 1A2 tests
  • Amelogenesis imperfecta type 1C1 test
  • Amelogenesis imperfecta type 1E1 test
  • Amelogenesis imperfecta type 1F1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amelogenesis imperfecta type 1H1 test
  • Amelogenesis imperfecta type 2A11 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amelogenesis imperfecta, hypomaturation type, IIa61 test
  • Amelogenesis imperfecta, type 1J1 test
  • Aminoacylase 1 deficiency2 tests
  • Aminoglycoside-induced deafness1 test
  • Amish lethal microcephaly3 tests
  • Amyloidosis, primary localized cutaneous, 11 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis type 14 tests
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 121 test
  • Amyotrophic lateral sclerosis type 151 test
  • Amyotrophic lateral sclerosis type 161 test
  • Amyotrophic lateral sclerosis type 181 test
  • Amyotrophic lateral sclerosis type 191 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 201 test
  • Amyotrophic lateral sclerosis type 211 test
  • Amyotrophic lateral sclerosis type 221 test
  • Amyotrophic lateral sclerosis type 42 tests
  • Amyotrophic lateral sclerosis type 52 tests
  • Amyotrophic lateral sclerosis type 61 test
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
  • Analbuminemia2 tests
  • Anaphylotoxin inactivator deficiency2 tests
  • Anauxetic dysplasia 12 tests
  • Andersen Tawil syndrome4 tests
  • Androgen resistance syndrome4 tests
  • ANE syndrome2 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
  • Aneurysm-osteoarthritis syndrome2 tests
  • Angelman syndrome2 tests
  • Angiomatoid fibrous histiocytoma1 test
  • Anhaptoglobinemia2 tests
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome8 tests
  • Aniridia 14 tests
  • Aniridia 21 test
  • Aniridia 31 test
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome2 tests
  • Ankylosing spondylitis1 test
  • Annular epidermolytic ichthyosis2 tests
  • Anonychia1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome6 tests
  • Anorexia nervosa, susceptibility to, 11 test
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 32 tests
  • Anterior segment dysgenesis 42 tests
  • Anterior segment dysgenesis 62 tests
  • Anterior segment dysgenesis 71 test
  • Anterior segment dysgenesis 81 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis4 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
  • Anxiety1 test
  • Aortic aneurysm, familial thoracic 101 test
  • Aortic aneurysm, familial thoracic 11, susceptibility to1 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic aneurysm, familial thoracic 91 test
  • Aortic valve disease 11 test
  • Aortic valve disease 21 test
  • Aplasia cutis congenita2 tests
  • Aplastic anemia10 tests
  • Apolipoprotein c-III deficiency1 test
  • Apparent mineralocorticoid excess2 tests
  • Arginase deficiency2 tests
  • Arginine:glycine amidinotransferase deficiency2 tests
  • Argininosuccinate lyase deficiency2 tests
  • Aromatase deficiency2 tests
  • Aromatase excess syndrome2 tests
  • Arrhinia with choanal atresia and microphthalmia syndrome2 tests
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma4 tests
  • Arrhythmogenic right ventricular dysplasia 11 test
  • Arrhythmogenic right ventricular dysplasia 101 test
  • Arrhythmogenic right ventricular dysplasia 112 tests
  • Arrhythmogenic right ventricular dysplasia 121 test
  • Arrhythmogenic right ventricular dysplasia 131 test
  • Arrhythmogenic right ventricular dysplasia 21 test
  • Arrhythmogenic right ventricular dysplasia 51 test
  • Arrhythmogenic right ventricular dysplasia 82 tests
  • Arrhythmogenic right ventricular dysplasia 92 tests
  • Arterial calcification, generalized, of infancy, 13 tests
  • Arterial calcification, generalized, of infancy, 24 tests
  • Arterial tortuosity syndrome2 tests
  • Arthrogryposis, distal, type 1A2 tests
  • Arthrogryposis, distal, type 1B2 tests
  • Arthrogryposis, distal, with impaired proprioception and touch2 tests
  • Arthrogryposis, Perthes disease, and upward gaze palsy2 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 12 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 22 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome2 tests
  • Arts syndrome3 tests
  • Aspartate aminotransferase, serum level of, quantitative trait locus 12 tests
  • Aspartylglucosaminuria2 tests
  • Asperger syndrome, X-linked, susceptibility to, 12 tests
  • Asperger syndrome, X-linked, susceptibility to, 22 tests
  • Aspergillosis, susceptibility to2 tests
  • Asphyxiating thoracic dystrophy 22 tests
  • Asphyxiating thoracic dystrophy 32 tests
  • Asphyxiating thoracic dystrophy 42 tests
  • Asphyxiating thoracic dystrophy 52 tests
  • Asthma, nasal polyps, and aspirin intolerance3 tests
  • Asthma-related traits, susceptibility to, 11 test
  • Asthma-related traits, susceptibility to, 21 test
  • Asthma-related traits, susceptibility to, 51 test
  • Asthma-related traits, susceptibility to, 71 test
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2 tests
  • Ataxia - oculomotor apraxia type 41 test
  • Ataxia with oculomotor apraxia type 31 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2 tests
  • Ataxia-hypogonadism-choroidal dystrophy syndrome1 test
  • Ataxia-pancytopenia syndrome2 tests
  • Ataxia-telangiectasia syndrome7 tests
  • Ataxia-telangiectasia-like disorder 12 tests
  • Ataxia-telangiectasia-like disorder 22 tests
  • Ateleiotic dwarfism2 tests
  • Atelosteogenesis type I4 tests
  • Atelosteogenesis type II4 tests
  • Atelosteogenesis type III4 tests
  • Atransferrinemia2 tests
  • Atrial conduction disease1 test
  • Atrial fibrillation, familial, 102 tests
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 141 test
  • Atrial fibrillation, familial, 151 test
  • Atrial fibrillation, familial, 181 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 92 tests
  • Atrial septal defect 22 tests
  • Atrial septal defect 31 test
  • Atrial septal defect 41 test
  • Atrial septal defect 51 test
  • Atrial septal defect 61 test
  • Atrial septal defect 72 tests
  • Atrial septal defect 81 test
  • Atrial septal defect 91 test
  • Atrial standstill 11 test
  • Atrial standstill 21 test
  • Atrichia with papular lesions1 test
  • Atrioventricular septal defect 42 tests
  • Atrioventricular septal defect 51 test
  • Atrioventricular septal defect and common atrioventricular junction2 tests
  • Atrioventricular septal defect, susceptibility to, 24 tests
  • Atrophia bulborum hereditaria1 test
  • Attention deficit hyperactivity disorder4 tests
  • Attention deficit-hyperactivity disorder, susceptibility to, 71 test
  • Atypical glycine encephalopathy2 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
  • Atypical hemolytic-uremic syndrome with C3 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with I factor anomaly2 tests
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly2 tests
  • Au-Kline syndrome2 tests
  • Aural atresia, congenital1 test
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 32 tests
  • Autism spectrum disorder - epilepsy - arthrogryposis syndrome2 tests
  • Autism spectrum disorder due to AUTS2 deficiency2 tests
  • Autism, susceptibility to, 154 tests
  • Autism, susceptibility to, 162 tests
  • Autism, susceptibility to, 172 tests
  • Autism, susceptibility to, 192 tests
  • Autism, susceptibility to, X-linked 12 tests
  • Autism, susceptibility to, X-linked 24 tests
  • Autism, susceptibility to, X-linked 34 tests
  • Autism, susceptibility to, X-linked 42 tests
  • Autism, susceptibility to, X-linked 52 tests
  • Autoimmune disease, multisystem, infantile-onset, 21 test
  • Autoimmune disease, susceptibility to, 11 test
  • Autoimmune disease, susceptibility to, 61 test
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome2 tests
  • Autoimmune interstitial lung disease-arthritis syndrome2 tests
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency2 tests
  • Autoimmune lymphoproliferative syndrome type 15 tests
  • Autoimmune lymphoproliferative syndrome type 2A2 tests
  • Autoimmune lymphoproliferative syndrome type 2B2 tests
  • Autoimmune lymphoproliferative syndrome type 46 tests
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2 tests
  • Autoimmune thrombocytopenia1 test
  • Autoimmune thyroid disease, susceptibility to, 32 tests
  • Autoinflammation with arthritis and dyskeratosis2 tests
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
  • Autoinflammatory syndrome, familial, Behcet-like1 test
  • Autosomal dominant Alport syndrome4 tests
  • Autosomal dominant aplasia and myelodysplasia2 tests
  • Autosomal dominant auditory neuropathy 11 test
  • Autosomal dominant centronuclear myopathy4 tests
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy2 tests
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures2 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2 tests
  • Autosomal dominant deafness - onychodystrophy syndrome1 test
  • Autosomal dominant distal renal tubular acidosis2 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
  • Autosomal dominant hypocalcemia 16 tests
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant hypophosphatemic rickets4 tests
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2 tests
  • Autosomal dominant isolated somatotropin deficiency2 tests
  • Autosomal dominant Kenny-Caffey syndrome2 tests
  • Autosomal dominant keratitis2 tests
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
  • Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency2 tests
  • Autosomal dominant mitochondrial myopathy with exercise intolerance2 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 12 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 32 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 41 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 51 test
  • Autosomal dominant nonsyndromic hearing loss 11 test
  • 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 132 tests
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 172 tests
  • Autosomal dominant nonsyndromic hearing loss 201 test
  • Autosomal dominant nonsyndromic hearing loss 221 test
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • 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 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 3B1 test
  • 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 4A1 test
  • 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 511 test
  • Autosomal dominant nonsyndromic hearing loss 561 test
  • Autosomal dominant nonsyndromic hearing loss 62 tests
  • Autosomal dominant nonsyndromic hearing loss 641 test
  • Autosomal dominant nonsyndromic hearing loss 651 test
  • 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 syndrome2 tests
  • Autosomal dominant optic atrophy classic form2 tests
  • Autosomal dominant osteopetrosis 12 tests
  • Autosomal dominant osteopetrosis 22 tests
  • Autosomal dominant Parkinson disease 12 tests
  • Autosomal dominant Parkinson disease 42 tests
  • Autosomal dominant Parkinson disease 81 test
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant Robinow syndrome 12 tests
  • Autosomal dominant Robinow syndrome 22 tests
  • Autosomal dominant Robinow syndrome 32 tests
  • Autosomal dominant sensory ataxia 11 test
  • Autosomal dominant sideroblastic anemia2 tests
  • Autosomal dominant slowed nerve conduction velocity1 test
  • Autosomal dominant striatal neurodegeneration type 12 tests
  • Autosomal dominant vitreoretinochoroidopathy4 tests
  • Autosomal dominant wooly hair1 test
  • Autosomal recessive agammaglobulinemia 12 tests
  • Autosomal recessive Alport syndrome10 tests
  • Autosomal recessive ataxia due to ubiquinone deficiency2 tests
  • Autosomal recessive ataxia, Beauce type1 test
  • Autosomal recessive axonal neuropathy with neuromyotonia2 tests
  • Autosomal recessive bestrophinopathy2 tests
  • Autosomal recessive complex spastic paraplegia type 9B1 test
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 102 tests
  • Autosomal recessive congenital ichthyosis 112 tests
  • Autosomal recessive congenital ichthyosis 22 tests
  • Autosomal recessive congenital ichthyosis 32 tests
  • Autosomal recessive congenital ichthyosis 4A2 tests
  • Autosomal recessive congenital ichthyosis 4B2 tests
  • Autosomal recessive congenital ichthyosis 52 tests
  • Autosomal recessive congenital ichthyosis 62 tests
  • Autosomal recessive congenital ichthyosis 82 tests
  • Autosomal recessive congenital ichthyosis 92 tests
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive distal renal tubular acidosis1 test
  • Autosomal recessive distal spinal muscular atrophy 12 tests
  • Autosomal recessive distal spinal muscular atrophy 22 tests
  • Autosomal recessive DOPA responsive dystonia4 tests
  • Autosomal recessive early-onset Parkinson disease 231 test
  • Autosomal recessive early-onset Parkinson disease 62 tests
  • Autosomal recessive early-onset Parkinson disease 72 tests
  • Autosomal recessive hypophosphatemic bone disease1 test
  • Autosomal recessive inherited pseudoxanthoma elasticum4 tests
  • Autosomal recessive juvenile Parkinson disease 21 test
  • Autosomal recessive Kenny-Caffey syndrome2 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 2C2 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 2F2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • 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 2K4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2R11 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
  • 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 2X1 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 deficiency2 tests
  • 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 122 tests
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 161 test
  • Autosomal recessive nonsyndromic hearing loss 18A1 test
  • Autosomal recessive nonsyndromic hearing loss 18B1 test
  • Autosomal recessive nonsyndromic hearing loss 1A4 tests
  • Autosomal recessive nonsyndromic hearing loss 1B1 test
  • 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 232 tests
  • 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 351 test
  • Autosomal recessive nonsyndromic hearing loss 362 tests
  • Autosomal recessive nonsyndromic hearing loss 371 test
  • Autosomal recessive nonsyndromic hearing loss 391 test
  • Autosomal recessive nonsyndromic hearing loss 44 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 531 test
  • 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 661 test
  • Autosomal recessive nonsyndromic hearing loss 671 test
  • Autosomal recessive nonsyndromic hearing loss 681 test
  • Autosomal recessive nonsyndromic hearing loss 71 test
  • Autosomal recessive nonsyndromic hearing loss 701 test
  • Autosomal recessive nonsyndromic hearing loss 741 test
  • Autosomal recessive nonsyndromic hearing loss 761 test
  • Autosomal recessive nonsyndromic hearing loss 771 test
  • 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 861 test
  • Autosomal recessive nonsyndromic hearing loss 881 test
  • Autosomal recessive nonsyndromic hearing loss 891 test
  • Autosomal recessive nonsyndromic hearing loss 92 tests
  • 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 omodysplasia2 tests
  • Autosomal recessive optic atrophy, OPA7 type1 test
  • Autosomal recessive osteopetrosis 12 tests
  • Autosomal recessive osteopetrosis 22 tests
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 52 tests
  • Autosomal recessive osteopetrosis 62 tests
  • Autosomal recessive osteopetrosis 72 tests
  • Autosomal recessive osteopetrosis 82 tests
  • Autosomal recessive Parkinson disease 142 tests
  • Autosomal recessive polycystic kidney disease5 tests
  • Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity2 tests
  • Autosomal recessive proximal renal tubular acidosis1 test
  • Autosomal recessive pseudohypoaldosteronism type 13 tests
  • Autosomal recessive Robinow syndrome4 tests
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2 tests
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency4 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency2 tests
  • Autosomal recessive spastic paraplegia type 761 test
  • Autosomal recessive spastic paraplegia type 781 test
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Autosomal recessive spinocerebellar ataxia 112 tests
  • Autosomal recessive spinocerebellar ataxia 124 tests
  • Autosomal recessive spinocerebellar ataxia 131 test
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 152 tests
  • Autosomal recessive spinocerebellar ataxia 161 test
  • Autosomal recessive spinocerebellar ataxia 171 test
  • Autosomal recessive spinocerebellar ataxia 181 test
  • Autosomal recessive spinocerebellar ataxia 21 test
  • Autosomal recessive spinocerebellar ataxia 202 tests
  • Autosomal recessive spinocerebellar ataxia 71 test
  • Autosomal recessive spondylometaphyseal dysplasia, Megarbane type2 tests
  • Autosomal systemic lupus erythematosus type 161 test
  • Avascular necrosis of femoral head, primary, 12 tests
  • Avascular necrosis of femoral head, primary, 21 test
  • Avellino corneal dystrophy1 test
  • Axenfeld-Rieger syndrome type 14 tests
  • Axenfeld-Rieger syndrome type 34 tests
  • Ayme-Gripp syndrome2 tests
  • Azorean disease2 tests
  • B4GALT1-congenital disorder of glycosylation2 tests
  • Bacteremia, susceptibility to, 11 test
  • Bacteremia, susceptibility to, 21 test
  • Bailey-Bloch congenital myopathy1 test
  • Baller-Gerold syndrome2 tests
  • Bamforth-Lazarus syndrome4 tests
  • Band heterotopia of brain2 tests
  • BAP1-related tumor predisposition syndrome2 tests
  • Baraitser-Winter syndrome 12 tests
  • Baraitser-winter syndrome 22 tests
  • Barber-Say syndrome2 tests
  • Bardet-Biedl syndrome 18 tests
  • Bardet-Biedl syndrome 102 tests
  • Bardet-Biedl syndrome 112 tests
  • Bardet-Biedl syndrome 122 tests
  • Bardet-Biedl syndrome 132 tests
  • Bardet-Biedl syndrome 146 tests
  • Bardet-Biedl syndrome 154 tests
  • Bardet-Biedl syndrome 162 tests
  • Bardet-Biedl syndrome 172 tests
  • Bardet-Biedl syndrome 192 tests
  • Bardet-Biedl syndrome 22 tests
  • Bardet-Biedl syndrome 222 tests
  • Bardet-Biedl syndrome 32 tests
  • Bardet-Biedl syndrome 42 tests
  • Bardet-Biedl syndrome 52 tests
  • Bardet-Biedl syndrome 72 tests
  • Bardet-Biedl syndrome 82 tests
  • Bardet-Biedl syndrome 92 tests
  • Barrett esophagus3 tests
  • Bartsocas-Papas syndrome 12 tests
  • Bartter disease type 12 tests
  • Bartter disease type 22 tests
  • Bartter disease type 36 tests
  • Bartter disease type 4A3 tests
  • Bartter disease type 4B4 tests
  • Bartter disease type 52 tests
  • Basal cell carcinoma, susceptibility to, 14 tests
  • Basal cell carcinoma, susceptibility to, 73 tests
  • Basal ganglia calcification, idiopathic, 42 tests
  • Basal ganglia calcification, idiopathic, 52 tests
  • Basal ganglia calcification, idiopathic, 62 tests
  • Basal laminar drusen2 tests
  • Basan syndrome2 tests
  • Beaded hair3 tests
  • Beare-Stevenson cutis gyrata syndrome2 tests
  • Becker muscular dystrophy6 tests
  • Beckwith-Wiedemann syndrome14 tests
  • Benign familial hematuria2 tests
  • Benign hereditary chorea2 tests
  • Benign recurrent intrahepatic cholestasis type 11 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Bent bone dysplasia syndrome 12 tests
  • BENTA disease1 test
  • Bernard Soulier syndrome4 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • beta Thalassemia8 tests
  • Beta-D-mannosidosis2 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency2 tests
  • Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
  • Bethlem myopathy 1A4 tests
  • Bethlem myopathy 22 tests
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifunctional peroxisomal enzyme deficiency2 tests
  • Bilateral frontoparietal polymicrogyria2 tests
  • Bilateral microtia-deafness-cleft palate syndrome2 tests
  • Bilateral parasagittal parieto-occipital polymicrogyria1 test
  • Bile acid malabsorption, primary, 11 test
  • Biotin-responsive basal ganglia disease2 tests
  • Biotinidase deficiency2 tests
  • Birbeck granule deficiency1 test
  • Birk-Barel syndrome2 tests
  • Birt-Hogg-Dube syndrome3 tests
  • Blau syndrome1 test
  • Bleeding disorder, platelet-type, 13, susceptibility to1 test
  • Blepharophimosis - intellectual disability syndrome, MKB type1 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type2 tests
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome4 tests
  • Blepharospasm1 test
  • Blood group, I system1 test
  • BLOOD GROUP--LUTHERAN INHIBITOR1 test
  • Bloom syndrome2 tests
  • Blue color blindness1 test
  • BNAR syndrome2 tests
  • Body mass index quantitative trait locus 101 test
  • Body mass index quantitative trait locus 111 test
  • Body mass index quantitative trait locus 121 test
  • Body mass index quantitative trait locus 141 test
  • Body mass index quantitative trait locus 181 test
  • Body mass index quantitative trait locus 41 test
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
  • Bohring-Opitz syndrome2 tests
  • Bombay phenotype1 test
  • Bone fragility with contractures, arterial rupture, and deafness2 tests
  • Bone marrow failure syndrome 32 tests
  • Bone mineral density quantitative trait locus 14 tests
  • Bone mineral density quantitative trait locus 181 test
  • Bone osteosarcoma2 tests
  • Boomerang dysplasia4 tests
  • Borjeson-Forssman-Lehmann syndrome2 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
  • Bothnia retinal dystrophy1 test
  • Bowen-Conradi syndrome2 tests
  • Brachydactyly type A11 test
  • Brachydactyly type A1C1 test
  • Brachydactyly type A1D1 test
  • Brachydactyly type B12 tests
  • Brachydactyly type B21 test
  • Brachydactyly type C1 test
  • Brachydactyly type D2 tests
  • Brachydactyly type E12 tests
  • Brachydactyly type E22 tests
  • Brachydactyly-arterial hypertension syndrome1 test
  • Brachydactyly-elbow wrist dysplasia syndrome1 test
  • Brachydactyly-syndactyly syndrome5 tests
  • Brachyolmia-amelogenesis imperfecta syndrome1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia2 tests
  • Brain small vessel disease 1 with or without ocular anomalies2 tests
  • Brain-lung-thyroid syndrome4 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency1 test
  • Branchiooculofacial syndrome2 tests
  • Branchiootic syndrome 18 tests
  • Branchiootic syndrome 32 tests
  • Branchiootorenal syndrome 14 tests
  • Branchiootorenal syndrome 22 tests
  • Breast-ovarian cancer, familial, susceptibility to, 12 tests
  • Breast-ovarian cancer, familial, susceptibility to, 22 tests
  • Breast-ovarian cancer, familial, susceptibility to, 31 test
  • Breast-ovarian cancer, familial, susceptibility to, 41 test
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Brittle cornea syndrome 11 test
  • Brittle cornea syndrome 21 test
  • Brody myopathy2 tests
  • Bronchiectasis with or without elevated sweat chloride 14 tests
  • Bronchiectasis with or without elevated sweat chloride 21 test
  • Brooke-Spiegler syndrome2 tests
  • Brown-Vialetto-van Laere syndrome 12 tests
  • Brown-Vialetto-van Laere syndrome 22 tests
  • Bruck syndrome 12 tests
  • Bruck syndrome 22 tests
  • Brugada syndrome 12 tests
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 52 tests
  • Brugada syndrome 61 test
  • Brugada syndrome 72 tests
  • Brugada syndrome 81 test
  • Brugada syndrome 91 test
  • Brunner syndrome3 tests
  • Budd-Chiari syndrome4 tests
  • Bullous ichthyosiform erythroderma4 tests
  • Burkitt lymphoma1 test
  • Buruli ulcer, susceptibility to1 test
  • C syndrome2 tests
  • C1 inhibitor deficiency4 tests
  • C1Q deficiency6 tests
  • Café-au-lait macules with pulmonary stenosis4 tests
  • Calcium oxalate urolithiasis1 test
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome2 tests
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome4 tests
  • Camptomelic dysplasia12 tests
  • Camptosynpolydactyly, complex2 tests
  • Candidiasis, familial, 62 tests
  • Candidiasis, familial, 82 tests
  • Candidiasis, familial, 92 tests
  • Capillary infantile hemangioma4 tests
  • Capillary malformation1 test
  • Capillary malformation-arteriovenous malformation 12 tests
  • Carcinoid tumor of intestine2 tests
  • Carcinoma of pancreas3 tests
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome2 tests
  • Cardiac arrhythmia, ankyrin-B-related2 tests
  • Cardiac valvular dysplasia, X-linked2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 42 tests
  • Cardiofaciocutaneous syndrome 15 tests
  • Cardiofaciocutaneous syndrome 24 tests
  • Cardiofaciocutaneous syndrome 32 tests
  • Cardiofaciocutaneous syndrome 42 tests
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis4 tests
  • Cardiomyopathy, familial restrictive, 11 test
  • Cardiomyopathy, familial restrictive, 32 tests
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome2 tests
  • Carney complex - trismus - pseudocamptodactyly syndrome2 tests
  • Carney complex, type 12 tests
  • Carney-Stratakis syndrome2 tests
  • Carnitine acylcarnitine translocase deficiency2 tests
  • Carnitine palmitoyl transferase 1A deficiency2 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form2 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form4 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
  • Carotid intimal medial thickness 12 tests
  • Carpal tunnel syndrome1 test
  • Cataract 1 multiple types1 test
  • Cataract 10 multiple types1 test
  • Cataract 11 multiple types1 test
  • Cataract 12 multiple types1 test
  • Cataract 13 with adult I phenotype1 test
  • Cataract 14 multiple types1 test
  • Cataract 15 multiple types1 test
  • Cataract 16 multiple types1 test
  • Cataract 17 multiple types1 test
  • Cataract 181 test
  • Cataract 19 multiple types1 test
  • Cataract 2, multiple types1 test
  • Cataract 20 multiple types1 test
  • Cataract 21 multiple types1 test
  • Cataract 22 multiple types1 test
  • Cataract 231 test
  • Cataract 3 multiple types1 test
  • Cataract 301 test
  • Cataract 31 multiple types1 test
  • Cataract 331 test
  • Cataract 34 multiple types1 test
  • Cataract 361 test
  • Cataract 381 test
  • Cataract 39 multiple types1 test
  • Cataract 4 multiple types1 test
  • Cataract 401 test
  • Cataract 412 tests
  • Cataract 421 test
  • Cataract 431 test
  • Cataract 441 test
  • Cataract 451 test
  • Cataract 46 juvenile-onset1 test
  • Cataract 5 multiple types1 test
  • Cataract 6 multiple types1 test
  • Cataract 9 multiple types1 test
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
  • Catecholaminergic polymorphic ventricular tachycardia 11 test
  • Catecholaminergic polymorphic ventricular tachycardia 21 test
  • Catecholaminergic polymorphic ventricular tachycardia 31 test
  • Catecholaminergic polymorphic ventricular tachycardia 41 test
  • Catecholaminergic polymorphic ventricular tachycardia 51 test
  • Catel-Manzke syndrome2 tests
  • Caudal duplication2 tests
  • Cayman type cerebellar ataxia1 test
  • CBL-related disorder1 test
  • CCDC115-CDG2 tests
  • CEDNIK syndrome2 tests
  • Celiac disease, susceptibility to, 31 test
  • Celiac disease, susceptibility to, 41 test
  • Cenani-Lenz syndactyly syndrome2 tests
  • Centra precocious puberty 11 test
  • Central core myopathy8 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 14 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 34 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome4 tests
  • Cerebellar ataxia-hypogonadism syndrome1 test
  • Cerebellar atrophy, visual impairment, and psychomotor retardation;2 tests
  • Cerebellar dysfunction with variable cognitive and behavioral abnormalities2 tests
  • Cerebellar-facial-dental syndrome2 tests
  • Cerebral amyloid angiopathy, APP-related2 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 12 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
  • Cerebral arteriovenous malformation2 tests
  • Cerebral cavernous malformation3 tests
  • Cerebral cavernous malformation 21 test
  • Cerebral cavernous malformation 31 test
  • Cerebral folate transport deficiency2 tests
  • Cerebral palsy, spastic quadriplegic, 22 tests
  • Cerebral palsy, spastic quadriplegic, 32 tests
  • Cerebro-costo-mandibular syndrome2 tests
  • Cerebrooculofacioskeletal syndrome 12 tests
  • Cerebrooculofacioskeletal syndrome 22 tests
  • Cerebrooculofacioskeletal syndrome 32 tests
  • Cerebrooculofacioskeletal syndrome 42 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 12 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 22 tests
  • Cernunnos-XLF deficiency2 tests
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)2 tests
  • Ceroid lipofuscinosis, neuronal, 6A1 test
  • Cervical cancer1 test
  • CFHR5 deficiency2 tests
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive2 tests
  • Char syndrome2 tests
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease axonal type 2CC1 test
  • Charcot-Marie-Tooth disease axonal type 2F2 tests
  • Charcot-Marie-Tooth disease axonal type 2K3 tests
  • Charcot-Marie-Tooth disease axonal type 2L1 test
  • Charcot-Marie-Tooth disease axonal type 2N1 test
  • Charcot-Marie-Tooth disease axonal type 2O1 test
  • Charcot-Marie-Tooth disease axonal type 2P1 test
  • Charcot-Marie-Tooth disease axonal type 2Q1 test
  • Charcot-Marie-Tooth disease axonal type 2S2 tests
  • Charcot-Marie-Tooth disease axonal type 2T1 test
  • Charcot-Marie-Tooth disease axonal type 2U1 test
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease axonal type 2X2 tests
  • Charcot-Marie-Tooth disease axonal type 2Z1 test
  • Charcot-Marie-Tooth disease dominant intermediate B2 tests
  • Charcot-Marie-Tooth disease dominant intermediate C1 test
  • Charcot-Marie-Tooth disease dominant intermediate D2 tests
  • Charcot-Marie-Tooth disease dominant intermediate E1 test
  • Charcot-Marie-Tooth disease dominant intermediate F1 test
  • Charcot-Marie-Tooth disease recessive intermediate A2 tests
  • Charcot-Marie-Tooth disease recessive intermediate B1 test
  • Charcot-Marie-Tooth disease recessive intermediate C1 test
  • Charcot-Marie-Tooth disease recessive intermediate D1 test
  • Charcot-Marie-Tooth disease type 1B2 tests
  • Charcot-Marie-Tooth disease type 1C1 test
  • Charcot-Marie-Tooth disease type 1D2 tests
  • Charcot-Marie-Tooth disease type 1E2 tests
  • Charcot-Marie-Tooth disease type 1F1 test
  • Charcot-Marie-Tooth disease type 2A11 test
  • Charcot-Marie-Tooth disease type 2A22 tests
  • Charcot-Marie-Tooth disease type 2B2 tests
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J2 tests
  • Charcot-Marie-Tooth disease type 2R1 test
  • Charcot-Marie-Tooth disease type 2Y1 test
  • Charcot-Marie-Tooth disease type 4A2 tests
  • Charcot-Marie-Tooth disease type 4B12 tests
  • Charcot-Marie-Tooth disease type 4B22 tests
  • Charcot-Marie-Tooth disease type 4B31 test
  • Charcot-Marie-Tooth disease type 4C2 tests
  • Charcot-Marie-Tooth disease type 4D1 test
  • Charcot-Marie-Tooth disease type 4E8 tests
  • Charcot-Marie-Tooth disease type 4F2 tests
  • Charcot-Marie-Tooth disease type 4G1 test
  • Charcot-Marie-Tooth disease type 4H1 test
  • Charcot-Marie-Tooth disease type 4J1 test
  • Charcot-Marie-Tooth disease type 4K1 test
  • Charcot-Marie-Tooth disease X-linked dominant 12 tests
  • Charcot-Marie-Tooth disease X-linked dominant 61 test
  • Charcot-Marie-Tooth disease X-linked recessive 51 test
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
  • Charcot-Marie-Tooth disease, type IA2 tests
  • CHARGE association6 tests
  • Charlevoix-Saguenay spastic ataxia1 test
  • Chilblain lupus 12 tests
  • Chilblain lupus 22 tests
  • Child syndrome3 tests
  • Childhood apraxia of speech1 test
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency2 tests
  • Childhood hypophosphatasia2 tests
  • Childhood onset GLUT1 deficiency syndrome 24 tests
  • CHIME syndrome3 tests
  • Chitayat syndrome2 tests
  • Chitotriosidase deficiency1 test
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome2 tests
  • Cholestanol storage disease2 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, intrahepatic, of pregnancy, 32 tests
  • Cholestasis, progressive familial intrahepatic, 42 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Chondrocalcinosis 22 tests
  • Chondrodysplasia Blomstrand type2 tests
  • Chondrodysplasia punctata 2 X-linked dominant2 tests
  • Chondrodysplasia with joint dislocations, gPAPP type2 tests
  • Chondrosarcoma2 tests
  • Chorea-acanthocytosis1 test
  • Choroid plexus papilloma6 tests
  • Choroidal dystrophy, central areolar 23 tests
  • Choroideremia2 tests
  • Christianson syndrome2 tests
  • Chromosome 10q23 deletion syndrome2 tests
  • Chromosome 13q14 deletion syndrome2 tests
  • Chromosome 14q11-q22 deletion syndrome1 test
  • Chromosome 15q11.2 deletion syndrome2 tests
  • Chromosome 15q13.3 microdeletion syndrome2 tests
  • Chromosome 15q25 deletion syndrome2 tests
  • Chromosome 15q26-qter deletion syndrome2 tests
  • Chromosome 16p11.2 duplication syndrome3 tests
  • Chromosome 16p12.2-p11.2 deletion syndrome2 tests
  • Chromosome 16p13.3 duplication syndrome2 tests
  • Chromosome 16q22 deletion syndrome2 tests
  • Chromosome 17p13.1 deletion syndrome2 tests
  • Chromosome 17p13.3 duplication syndrome2 tests
  • Chromosome 17P13.3, telomeric, duplication syndrome3 tests
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb2 tests
  • Chromosome 17q12 deletion syndrome2 tests
  • Chromosome 17q12 duplication syndrome2 tests
  • Chromosome 17q21.31 duplication syndrome2 tests
  • Chromosome 17q23.1-q23.2 deletion syndrome2 tests
  • Chromosome 19p13.13 deletion syndrome3 tests
  • Chromosome 19q13.11 deletion syndrome, distal2 tests
  • Chromosome 1p32-p31 deletion syndrome2 tests
  • Chromosome 1p36 deletion syndrome2 tests
  • Chromosome 1q21.1 deletion syndrome2 tests
  • Chromosome 1q21.1 duplication syndrome2 tests
  • Chromosome 1q41-q42 deletion syndrome2 tests
  • Chromosome 22q11.2 deletion syndrome, distal2 tests
  • Chromosome 22q11.2 microduplication syndrome2 tests
  • Chromosome 22q13 duplication syndrome2 tests
  • Chromosome 2p12-p11.2 deletion syndrome2 tests
  • Chromosome 2p16.1-p15 deletion syndrome2 tests
  • Chromosome 2p16.3 deletion syndrome3 tests
  • Chromosome 2q31.1 duplication syndrome2 tests
  • Chromosome 2q31.2 deletion syndrome2 tests
  • Chromosome 2q32-q33 deletion syndrome2 tests
  • Chromosome 2q37 deletion syndrome2 tests
  • Chromosome 3q13.31 deletion syndrome2 tests
  • Chromosome 3q29 microdeletion syndrome2 tests
  • Chromosome 3q29 microduplication syndrome2 tests
  • Chromosome 4q21 deletion syndrome2 tests
  • Chromosome 4Q32.1-q32.2 triplication syndrome2 tests
  • Chromosome 5p13 duplication syndrome2 tests
  • Chromosome 5q12 deletion syndrome2 tests
  • Chromosome 6pter-p24 deletion syndrome2 tests
  • Chromosome 6q11-q14 deletion syndrome2 tests
  • Chromosome 6q24-q25 deletion syndrome2 tests
  • Chromosome 8q21.11 deletion syndrome2 tests
  • Chromosome 9p deletion syndrome2 tests
  • Chromosome Xp11.22 duplication syndrome3 tests
  • Chromosome Xp11.23-p11.22 duplication syndrome2 tests
  • Chromosome Xp21 deletion syndrome2 tests
  • Chromosome Xq28 duplication syndrome2 tests
  • Chronic infantile neurological, cutaneous and articular syndrome2 tests
  • Chronic obstructive pulmonary disease6 tests
  • Chudley-McCullough syndrome2 tests
  • Chuvash polycythemia2 tests
  • Chylomicron retention disease1 test
  • Chédiak-Higashi syndrome2 tests
  • CIDEC-related familial partial lipodystrophy1 test
  • Ciliary dyskinesia, primary, 36, X-linked1 test
  • Citrullinemia type I2 tests
  • Citrullinemia type II2 tests
  • CK syndrome2 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency8 tests
  • Classic dopamine transporter deficiency syndrome1 test
  • Classic Hodgkin lymphoma1 test
  • Classic homocystinuria4 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome4 tests
  • Cleft palate with or without ankyloglossia, X-linked2 tests
  • Cleidocranial dysostosis4 tests
  • CLOVES syndrome3 tests
  • Clubfoot2 tests
  • COACH syndrome 16 tests
  • Cobalamin C disease2 tests
  • Cobblestone lissencephaly without muscular or ocular involvement2 tests
  • Cockayne syndrome type 12 tests
  • Cockayne syndrome type 22 tests
  • Cocoon syndrome2 tests
  • CODAS syndrome2 tests
  • Coenzyme Q10 deficiency, primary, 12 tests
  • Coenzyme Q10 deficiency, primary, 32 tests
  • Coffin-Lowry syndrome4 tests
  • Coffin-Siris syndrome 14 tests
  • Coffin-Siris syndrome 52 tests
  • COG1 congenital disorder of glycosylation2 tests
  • COG4-congenital disorder of glycosylation2 tests
  • COG5-congenital disorder of glycosylation2 tests
  • COG6-ongenital disorder of glycosylation2 tests
  • COG7 congenital disorder of glycosylation2 tests
  • COG8-congenital disorder of glycosylation2 tests
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2 tests
  • Cognitive impairment with or without cerebellar ataxia2 tests
  • Cohen syndrome4 tests
  • Colchicine resistance1 test
  • Cold-induced sweating syndrome 12 tests
  • Cold-induced sweating syndrome 22 tests
  • Cole-Carpenter syndrome 12 tests
  • Cole-Carpenter syndrome 22 tests
  • Coloboma of optic nerve4 tests
  • Coloboma, ocular, autosomal recessive1 test
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness4 tests
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome2 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
  • Colorectal cancer29 tests
  • Colorectal cancer, hereditary nonpolyposis, type 21 test
  • Colorectal cancer, hereditary nonpolyposis, type 61 test
  • Colorectal cancer, hereditary nonpolyposis, type 74 tests
  • Colorectal cancer, susceptibility to, 11 test
  • Colorectal cancer, susceptibility to, 102 tests
  • Colorectal cancer, susceptibility to, 121 test
  • Colorectal cancer, susceptibility to, 31 test
  • Combined deficiency of sialidase AND beta galactosidase2 tests
  • Combined immunodeficiency due to CD3gamma deficiency2 tests
  • Combined immunodeficiency due to DOCK8 deficiency2 tests
  • Combined immunodeficiency due to LRBA deficiency2 tests
  • Combined immunodeficiency due to MALT1 deficiency2 tests
  • Combined immunodeficiency due to moesin deficiency2 tests
  • Combined immunodeficiency due to ORAI1 deficiency2 tests
  • Combined immunodeficiency due to OX40 deficiency2 tests
  • Combined immunodeficiency due to partial RAG1 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency2 tests
  • Combined immunodeficiency due to STK4 deficiency2 tests
  • Combined immunodeficiency due to ZAP70 deficiency2 tests
  • Combined immunodeficiency with skin granulomas4 tests
  • Combined immunodeficiency, X-linked2 tests
  • Combined malonic and methylmalonic acidemia2 tests
  • Combined oxidative phosphorylation defect type 112 tests
  • Combined oxidative phosphorylation defect type 132 tests
  • Combined oxidative phosphorylation defect type 142 tests
  • Combined oxidative phosphorylation defect type 152 tests
  • Combined oxidative phosphorylation defect type 172 tests
  • Combined oxidative phosphorylation defect type 22 tests
  • Combined oxidative phosphorylation defect type 202 tests
  • Combined oxidative phosphorylation defect type 212 tests
  • Combined oxidative phosphorylation defect type 232 tests
  • Combined oxidative phosphorylation defect type 242 tests
  • Combined oxidative phosphorylation defect type 252 tests
  • Combined oxidative phosphorylation defect type 262 tests
  • Combined oxidative phosphorylation defect type 272 tests
  • Combined oxidative phosphorylation defect type 302 tests
  • Combined oxidative phosphorylation defect type 42 tests
  • Combined oxidative phosphorylation defect type 72 tests
  • Combined oxidative phosphorylation defect type 82 tests
  • Combined oxidative phosphorylation defect type 92 tests
  • Combined oxidative phosphorylation deficiency 192 tests
  • Combined oxidative phosphorylation deficiency 222 tests
  • Combined oxidative phosphorylation deficiency 282 tests
  • Combined oxidative phosphorylation deficiency 292 tests
  • Combined PSAP deficiency2 tests
  • Complement component 2 deficiency2 tests
  • Complement component 3 deficiency2 tests
  • Complement component 4a deficiency2 tests
  • Complement component 4b deficiency2 tests
  • Complement component 5 deficiency2 tests
  • Complement component 6 deficiency4 tests
  • Complement component 7 deficiency2 tests
  • Complement component 9 deficiency2 tests
  • Complement component C1s deficiency2 tests
  • Complement factor b deficiency2 tests
  • Complete trisomy 21 syndrome1 test
  • Complex cortical dysplasia with other brain malformations 12 tests
  • Complex cortical dysplasia with other brain malformations 22 tests
  • Complex cortical dysplasia with other brain malformations 32 tests
  • Complex cortical dysplasia with other brain malformations 52 tests
  • Complex cortical dysplasia with other brain malformations 64 tests
  • Complex cortical dysplasia with other brain malformations 72 tests
  • Complex lethal osteochondrodysplasia2 tests
  • Compton-North congenital myopathy2 tests
  • Conduction disorder of the heart1 test
  • Cone dystrophy 32 tests
  • Cone dystrophy 41 test
  • Cone dystrophy with supernormal rod response1 test
  • Cone monochromatism2 tests
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 132 tests
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 162 tests
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 22 tests
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 211 test
  • Cone-rod dystrophy 32 tests
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 62 tests
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy and hearing loss 11 test
  • Cone-rod synaptic disorder, congenital nonprogressive1 test
  • Congenital absence of salivary gland2 tests
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency2 tests
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2 tests
  • Congenital afibrinogenemia10 tests
  • Congenital amegakaryocytic thrombocytopenia2 tests
  • Congenital anomalies of kidney and urinary tract 11 test
  • Congenital anomalies of kidney and urinary tract 22 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
  • Congenital bile acid synthesis defect 12 tests
  • Congenital bile acid synthesis defect 22 tests
  • Congenital bile acid synthesis defect 32 tests
  • Congenital bile acid synthesis defect 42 tests
  • Congenital bile acid synthesis defect 52 tests
  • Congenital bile acid synthesis defect 62 tests
  • Congenital brain dysgenesis due to glutamine synthetase deficiency2 tests
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome2 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome2 tests
  • Congenital central hypoventilation24 tests
  • Congenital contractural arachnodactyly2 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay2 tests
  • Congenital defect of folate absorption1 test
  • Congenital diarrhea 5 with tufting enteropathy2 tests
  • Congenital diarrhea 62 tests
  • Congenital diarrhea 7 with exudative enteropathy2 tests
  • Congenital disorder of deglycosylation2 tests
  • Congenital disorder of glycosylation type 1E2 tests
  • Congenital disorder of glycosylation type Ir2 tests
  • Congenital disorder of glycosylation, type IAA2 tests
  • Congenital dyserythropoietic anemia type 42 tests
  • Congenital dyserythropoietic anemia type type 1B2 tests
  • Congenital dyserythropoietic anemia, type I2 tests
  • Congenital dyserythropoietic anemia, type II3 tests
  • Congenital fibrosis of extraocular muscles type 12 tests
  • Congenital generalized lipodystrophy type 12 tests
  • Congenital generalized lipodystrophy type 22 tests
  • Congenital generalized lipodystrophy type 32 tests
  • Congenital generalized lipodystrophy type 42 tests
  • Congenital glucose-galactose malabsorption2 tests
  • Congenital heart defects and ectodermal dysplasia2 tests
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2 tests
  • Congenital heart defects, multiple types, 22 tests
  • Congenital heart defects, multiple types, 42 tests
  • Congenital heart defects, multiple types, 62 tests
  • Congenital hereditary endothelial dystrophy of cornea1 test
  • Congenital hyperammonemia, type I3 tests
  • 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 deficiency2 tests
  • Congenital lactase deficiency2 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2 tests
  • Congenital lipoid adrenal hyperplasia due to STAR deficency2 tests
  • Congenital malabsorptive diarrhea 42 tests
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome2 tests
  • Congenital microvillous atrophy6 tests
  • Congenital multicore myopathy with external ophthalmoplegia4 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency2 tests
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy2 tests
  • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome2 tests
  • Congenital muscular hypertrophy-cerebral syndrome2 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 164 tests
  • Congenital myasthenic syndrome 172 tests
  • Congenital myasthenic syndrome 182 tests
  • Congenital myasthenic syndrome 192 tests
  • Congenital myasthenic syndrome 202 tests
  • Congenital myasthenic syndrome 212 tests
  • Congenital myasthenic syndrome 2A2 tests
  • Congenital myasthenic syndrome 2C2 tests
  • Congenital myasthenic syndrome 3A2 tests
  • Congenital myasthenic syndrome 3B2 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 91 test
  • Congenital myopathy 234 tests
  • Congenital myopathy 4B, autosomal recessive4 tests
  • Congenital myopathy with fiber type disproportion6 tests
  • Congenital myopathy with internal nuclei and atypical cores2 tests
  • Congenital myotonia, autosomal dominant form8 tests
  • Congenital myotonia, autosomal recessive form6 tests
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome2 tests
  • Congenital nongoitrous hypothryoidism 61 test
  • Congenital plasminogen activator inhibitor type 1 deficiency2 tests
  • Congenital primary aphakia1 test
  • Congenital prothrombin deficiency2 tests
  • Congenital reticular ichthyosiform erythroderma1 test
  • Congenital secretory diarrhea, chloride type4 tests
  • Congenital secretory sodium diarrhea 32 tests
  • Congenital secretory sodium diarrhea 82 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2 tests
  • Congenital stationary night blindness 1A1 test
  • Congenital stationary night blindness 1B1 test
  • Congenital stationary night blindness 1C1 test
  • Congenital stationary night blindness 1D1 test
  • Congenital stationary night blindness 1E1 test
  • Congenital stationary night blindness 1F1 test
  • Congenital stationary night blindness 1G1 test
  • Congenital stationary night blindness 1H1 test
  • Congenital stationary night blindness 2A1 test
  • Congenital stationary night blindness autosomal dominant 12 tests
  • Congenital stationary night blindness autosomal dominant 21 test
  • Congenital stationary night blindness autosomal dominant 31 test
  • Congenital vertical talus2 tests
  • Conotruncal heart malformations12 tests
  • Constitutional megaloblastic anemia with severe neurologic disease2 tests
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A2 tests
  • Cornea plana 21 test
  • Corneal dystrophy, Fuchs endothelial, 11 test
  • Corneal dystrophy, Fuchs endothelial, 31 test
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, Fuchs endothelial, 81 test
  • Corneal dystrophy, lattice type 3A1 test
  • Corneal dystrophy, Meesmann, 12 tests
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Cornelia de Lange syndrome 14 tests
  • Cornelia de Lange syndrome 32 tests
  • Cornelia de Lange syndrome 42 tests
  • Cornelia de Lange syndrome 52 tests
  • Coronary artery disease, autosomal dominant 21 test
  • Coronary artery disease, autosomal dominant, 11 test
  • Coronary heart disease, susceptibility to, 12 tests
  • Coronary heart disease, susceptibility to, 51 test
  • Coronary heart disease, susceptibility to, 61 test
  • Coronary heart disease, susceptibility to, 71 test
  • Corpus callosum agenesis-abnormal genitalia syndrome6 tests
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome2 tests
  • Cortical dysplasia-focal epilepsy syndrome8 tests
  • Corticosteroid-binding globulin deficiency1 test
  • Corticosterone 18-monooxygenase deficiency3 tests
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Cortisone reductase deficiency 11 test
  • Cortisone reductase deficiency 21 test
  • Costello syndrome8 tests
  • Cowden syndrome 16 tests
  • Cowden syndrome 41 test
  • Cowden syndrome 51 test
  • Cowden syndrome 61 test
  • Cowden syndrome 71 test
  • Coxopodopatellar syndrome2 tests
  • Craniodiaphyseal dysplasia, autosomal dominant2 tests
  • Cranioectodermal dysplasia 12 tests
  • Cranioectodermal dysplasia 22 tests
  • Cranioectodermal dysplasia 32 tests
  • Cranioectodermal dysplasia 42 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 12 tests
  • Craniofacial dysplasia - osteopenia syndrome2 tests
  • Craniofacial-deafness-hand syndrome4 tests
  • Craniofrontonasal syndrome2 tests
  • Craniolenticulosutural dysplasia2 tests
  • Craniometaphyseal dysplasia, autosomal dominant1 test
  • Craniometaphyseal dysplasia, autosomal recessive1 test
  • Craniosynostosis 26 tests
  • Craniosynostosis 42 tests
  • Craniosynostosis 5, susceptibility to4 tests
  • Craniosynostosis 64 tests
  • Craniosynostosis and dental anomalies2 tests
  • Creatine transporter deficiency4 tests
  • Crigler-Najjar syndrome type 12 tests
  • Crigler-Najjar syndrome, type II2 tests
  • Crouzon syndrome2 tests
  • Crouzon syndrome-acanthosis nigricans syndrome4 tests
  • Cryohydrocytosis1 test
  • Cryptorchidism1 test
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome2 tests
  • Currarino triad2 tests
  • Curry-Hall syndrome8 tests
  • Curry-Jones syndrome2 tests
  • Cushing syndrome2 tests
  • Cutaneous porphyria4 tests
  • Cutis laxa with osteodystrophy3 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
  • Cutis laxa, autosomal dominant 12 tests
  • Cutis laxa, autosomal dominant 22 tests
  • Cutis laxa, autosomal dominant 32 tests
  • Cutis laxa, autosomal recessive, type 1A2 tests
  • Cutis laxa, autosomal recessive, type 1B2 tests
  • Cutis laxa, X-linked4 tests
  • Cyanosis, transient neonatal1 test
  • Cyclical neutropenia2 tests
  • CYP2C19-related poor drug metabolism9 tests
  • Cystathioninuria2 tests
  • Cystic fibrosis14 tests
  • Cystic leukoencephalopathy without megalencephaly2 tests
  • Cystinuria8 tests
  • D-2-hydroxyglutaric aciduria 14 tests
  • D-2-hydroxyglutaric aciduria 22 tests
  • D-Glyceric aciduria2 tests
  • Dalmatian hypouricemia1 test
  • Dandy-Walker syndrome2 tests
  • Danon disease2 tests
  • DDX41-related hematologic malignancy predisposition syndrome1 test
  • DE SANCTIS-CACCHIONE SYNDROME2 tests
  • Deafness dystonia syndrome2 tests
  • Deafness with labyrinthine aplasia, microtia, and microdontia1 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome2 tests
  • Deafness-infertility syndrome1 test
  • Deafness-lymphedema-leukemia syndrome6 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase2 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of alpha-mannosidase2 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase2 tests
  • Deficiency of beta-ureidopropionase2 tests
  • Deficiency of bisphosphoglycerate mutase1 test
  • Deficiency of butyryl-CoA dehydrogenase2 tests
  • Deficiency of cytochrome-b5 reductase4 tests
  • Deficiency of ferroxidase4 tests
  • Deficiency of galactokinase2 tests
  • Deficiency of guanidinoacetate methyltransferase2 tests
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of isobutyryl-CoA dehydrogenase2 tests
  • Deficiency of malonyl-CoA decarboxylase4 tests
  • Deficiency of phosphoserine phosphatase2 tests
  • Deficiency of ribose-5-phosphate isomerase2 tests
  • Deficiency of steroid 11-beta-monooxygenase2 tests
  • Deficiency of steroid 17-alpha-monooxygenase10 tests
  • Deficiency of transaldolase2 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase4 tests
  • Dehydrated hereditary stomatocytosis 22 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
  • Dejerine-Sottas disease16 tests
  • Deletion of long arm of chromosome 182 tests
  • Deletion of short arm of chromosome 182 tests
  • Dengue virus, susceptibility to2 tests
  • Dent disease type 12 tests
  • Dent disease type 22 tests
  • Dentatorubral-pallidoluysian atrophy2 tests
  • Denticles1 test
  • Dentin dysplasia type I1 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Dermatitis, atopic, 21 test
  • Dermatofibrosarcoma protuberans2 tests
  • Dermatofibrosis lenticularis disseminata4 tests
  • Dermatopathia pigmentosa reticularis2 tests
  • DeSanto-Shinawi syndrome due to WAC point mutation2 tests
  • Desbuquois dysplasia 12 tests
  • Desbuquois dysplasia 22 tests
  • Desmin-related myofibrillar myopathy2 tests
  • Desmoid disease, hereditary2 tests
  • Desmosterolosis1 test
  • Deuteranomaly1 test
  • Developmental and epileptic encephalopathy 942 tests
  • Developmental and epileptic encephalopathy, 14 tests
  • Developmental and epileptic encephalopathy, 112 tests
  • Developmental and epileptic encephalopathy, 122 tests
  • Developmental and epileptic encephalopathy, 132 tests
  • Developmental and epileptic encephalopathy, 142 tests
  • Developmental and epileptic encephalopathy, 152 tests
  • Developmental and epileptic encephalopathy, 162 tests
  • Developmental and epileptic encephalopathy, 172 tests
  • Developmental and epileptic encephalopathy, 182 tests
  • Developmental and epileptic encephalopathy, 192 tests
  • Developmental and epileptic encephalopathy, 24 tests
  • Developmental and epileptic encephalopathy, 212 tests
  • Developmental and epileptic encephalopathy, 232 tests
  • Developmental and epileptic encephalopathy, 242 tests
  • Developmental and epileptic encephalopathy, 252 tests
  • Developmental and epileptic encephalopathy, 262 tests
  • Developmental and epileptic encephalopathy, 274 tests
  • Developmental and epileptic encephalopathy, 284 tests
  • Developmental and epileptic encephalopathy, 292 tests
  • Developmental and epileptic encephalopathy, 302 tests
  • Developmental and epileptic encephalopathy, 312 tests
  • Developmental and epileptic encephalopathy, 322 tests
  • Developmental and epileptic encephalopathy, 332 tests
  • Developmental and epileptic encephalopathy, 342 tests
  • Developmental and epileptic encephalopathy, 352 tests
  • Developmental and epileptic encephalopathy, 364 tests
  • Developmental and epileptic encephalopathy, 372 tests
  • Developmental and epileptic encephalopathy, 382 tests
  • Developmental and epileptic encephalopathy, 392 tests
  • Developmental and epileptic encephalopathy, 44 tests
  • Developmental and epileptic encephalopathy, 402 tests
  • Developmental and epileptic encephalopathy, 412 tests
  • Developmental and epileptic encephalopathy, 424 tests
  • Developmental and epileptic encephalopathy, 431 test
  • Developmental and epileptic encephalopathy, 442 tests
  • Developmental and epileptic encephalopathy, 452 tests
  • Developmental and epileptic encephalopathy, 462 tests
  • Developmental and epileptic encephalopathy, 472 tests
  • Developmental and epileptic encephalopathy, 482 tests
  • Developmental and epileptic encephalopathy, 492 tests
  • Developmental and epileptic encephalopathy, 52 tests
  • Developmental and epileptic encephalopathy, 502 tests
  • Developmental and epileptic encephalopathy, 512 tests
  • Developmental and epileptic encephalopathy, 522 tests
  • Developmental and epileptic encephalopathy, 532 tests
  • Developmental and epileptic encephalopathy, 542 tests
  • Developmental and epileptic encephalopathy, 74 tests
  • Developmental and epileptic encephalopathy, 94 tests
  • Developmental delay with autism spectrum disorder and gait instability2 tests
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair2 tests
  • Developmental malformations-deafness-dystonia syndrome1 test
  • Diabetes insipidus, nephrogenic, autosomal1 test
  • Diabetes insipidus, nephrogenic, X-linked1 test
  • Diabetes mellitus type 18 tests
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, noninsulin-dependent, 11 test
  • Diabetes mellitus, noninsulin-dependent, 51 test
  • Diabetes mellitus, transient neonatal, 12 tests
  • Diabetes mellitus, transient neonatal, 22 tests
  • Diabetes mellitus, transient neonatal, 31 test
  • Diamond-Blackfan anemia 14 tests
  • Diamond-Blackfan anemia 104 tests
  • Diamond-Blackfan anemia 112 tests
  • Diamond-Blackfan anemia 122 tests
  • Diamond-Blackfan anemia 132 tests
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 44 tests
  • Diamond-Blackfan anemia 54 tests
  • Diamond-Blackfan anemia 64 tests
  • Diamond-Blackfan anemia 74 tests
  • Diamond-Blackfan anemia 82 tests
  • Diamond-Blackfan anemia 92 tests
  • Diaphanospondylodysostosis2 tests
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia2 tests
  • Diaphyseal medullary stenosis-bone malignancy syndrome1 test
  • Dias-Logan syndrome2 tests
  • Diastrophic dysplasia2 tests
  • Dicarboxylic aminoaciduria2 tests
  • DICER1-related tumor predisposition1 test
  • Diffuse nonepidermolytic palmoplantar keratoderma1 test
  • DiGeorge syndrome3 tests
  • Dihydropteridine reductase deficiency2 tests
  • Dihydropyrimidinase deficiency2 tests
  • Dihydropyrimidine dehydrogenase deficiency7 tests
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1AA2 tests
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C3 tests
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1D4 tests
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E2 tests
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1HH2 tests
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK3 tests
  • Dilated cardiomyopathy 1L2 tests
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1NN1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S4 tests
  • Dilated cardiomyopathy 1U2 tests
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X2 tests
  • Dilated cardiomyopathy 1Y2 tests
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 2B1 test
  • Dilated cardiomyopathy 3B2 tests
  • Dimethylglycine dehydrogenase deficiency2 tests
  • Disorder due cytochrome p450 CYP2D6 variant5 tests
  • Distal 10q deletion syndrome2 tests
  • Distal 16p11.2 microdeletion syndrome1 test
  • Distal 7q11.23 microdeletion syndrome2 tests
  • Distal arthrogryposis type 2B18 tests
  • Distal arthrogryposis type 5D2 tests
  • Distal myopathy with anterior tibial onset4 tests
  • Distal myopathy with posterior leg and anterior hand involvement2 tests
  • Distal myopathy, Tateyama type4 tests
  • Distichiasis-lymphedema syndrome4 tests
  • Dizygotic twins2 tests
  • DK1-congenital disorder of glycosylation2 tests
  • DNA ligase IV deficiency2 tests
  • DOCK2 deficiency2 tests
  • Dominant beta-thalassemia4 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin4 tests
  • Donnai-Barrow syndrome2 tests
  • DOORS syndrome2 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Dowling-Degos disease 16 tests
  • Dowling-Degos disease 22 tests
  • Dowling-Degos disease 42 tests
  • Doyne honeycomb retinal dystrophy1 test
  • DPAGT1-congenital disorder of glycosylation2 tests
  • DPM3-congenital disorder of glycosylation2 tests
  • Drash syndrome4 tests
  • Duane retraction syndrome 21 test
  • Duane retraction syndrome 3 with or without deafness1 test
  • Duane-radial ray syndrome4 tests
  • Dubin-Johnson syndrome2 tests
  • Duchenne muscular dystrophy4 tests
  • Dyggve-Melchior-Clausen syndrome2 tests
  • DYRK1A-related intellectual disability syndrome2 tests
  • Dyschromatosis universalis hereditaria 31 test
  • Dyskeratosis congenita, autosomal dominant 12 tests
  • Dyskeratosis congenita, autosomal dominant 28 tests
  • Dyskeratosis congenita, autosomal dominant 32 tests
  • Dyskeratosis congenita, autosomal dominant 62 tests
  • Dyskeratosis congenita, autosomal recessive 12 tests
  • Dyskeratosis congenita, autosomal recessive 22 tests
  • Dyskeratosis congenita, autosomal recessive 32 tests
  • Dyskeratosis congenita, autosomal recessive 54 tests
  • Dyskeratosis congenita, autosomal recessive 62 tests
  • Dyskeratosis congenita, X-linked4 tests
  • Dyskinesia with orofacial involvement, autosomal dominant1 test
  • Dyslexia, susceptibility to, 11 test
  • Dyslexia, susceptibility to, 21 test
  • Dystonia 122 tests
  • Dystonia 162 tests
  • Dystonia 231 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 271 test
  • Dystonia 28, childhood-onset1 test
  • Dystonia 52 tests
  • Dystonia 92 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
  • Early myoclonic encephalopathy2 tests
  • Early-onset generalized limb-onset dystonia4 tests
  • Early-onset Lafora body disease2 tests
  • Early-onset myopathy with fatal cardiomyopathy2 tests
  • Early-onset Parkinson disease 201 test
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2 tests
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome2 tests
  • EAST syndrome1 test
  • 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 dominant3 tests
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type2 tests
  • Ectodermal dysplasia 13, hair/tooth type2 tests
  • Ectodermal dysplasia 4, hair/nail type2 tests
  • Ectodermal dysplasia 7, hair/nail type2 tests
  • Ectodermal dysplasia 9, hair/nail type2 tests
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Ectodermal dysplasia and immunodeficiency 22 tests
  • Ectodermal dysplasia-syndactyly syndrome 12 tests
  • Ectopia lentis 1, isolated, autosomal dominant2 tests
  • Ectopia lentis et pupillae1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 32 tests
  • Eculizumab, poor response to1 test
  • EDICT syndrome2 tests
  • EEM syndrome2 tests
  • Efavirenz response5 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
  • Ehlers-Danlos syndrome progeroid type1 test
  • Ehlers-Danlos syndrome, arthrochalasia type4 tests
  • Ehlers-Danlos syndrome, cardiac valvular type2 tests
  • Ehlers-Danlos syndrome, classic type5 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type1 test
  • Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, periodontal type 11 test
  • Ehlers-Danlos syndrome, periodontal type 21 test
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type2 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Eichsfeld type congenital muscular dystrophy2 tests
  • Eiken syndrome1 test
  • Elevated circulating creatine kinase concentration2 tests
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Ellis-van Creveld syndrome8 tests
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 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
  • Encephalocraniocutaneous lipomatosis2 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, 72 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 42 tests
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 12 tests
  • Encephalopathy, progressive, with amyotrophy and optic atrophy2 tests
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2 tests
  • Endocrine-cerebro-osteodysplasia syndrome2 tests
  • Endometrial carcinoma6 tests
  • Enhanced S-cone syndrome1 test
  • Enterokinase deficiency2 tests
  • Eosinophil peroxidase deficiency1 test
  • Epidermal nevus3 tests
  • Epidermodysplasia verruciformis, susceptibility to, 14 tests
  • Epidermolysis bullosa pruriginosa4 tests
  • Epidermolysis bullosa simplex 1A, generalized severe8 tests
  • Epidermolysis bullosa simplex 1C, localized12 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive10 tests
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency2 tests
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive3 tests
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy2 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia2 tests
  • Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss2 tests
  • Epidermolysis bullosa simplex 7, with nephropathy and deafness2 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency1 test
  • Epidermolysis bullosa simplex with migratory circinate erythema4 tests
  • Epidermolysis bullosa simplex with mottled pigmentation2 tests
  • Epidermolysis bullosa simplex with nail dystrophy2 tests
  • Epidermolysis bullosa simplex, Koebner type8 tests
  • Epidermolysis bullosa simplex, Ogna type2 tests
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence, susceptibility to, 52 tests
  • Epilepsy, childhood absence, susceptibility to, 61 test
  • Epilepsy, early-onset, vitamin B6-dependent1 test
  • Epilepsy, familial adult myoclonic, 21 test
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 31 test
  • Epilepsy, familial temporal lobe, 12 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 103 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 113 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 122 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 132 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, idiopathic generalized, susceptibility to, 82 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 91 test
  • Epilepsy, progressive myoclonic, 1B2 tests
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders2 tests
  • Episodic ataxia type 12 tests
  • Episodic ataxia type 22 tests
  • Episodic ataxia type 51 test
  • Episodic ataxia type 61 test
  • Episodic kinesigenic dyskinesia 11 test
  • Episodic pain syndrome, familial, 21 test
  • Epithelial basement membrane dystrophy1 test
  • Epithelial recurrent erosion dystrophy1 test
  • Epsilon-trimethyllysine hydroxylase deficiency2 tests
  • Erythrocyte AMP deaminase deficiency1 test
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythrokeratodermia variabilis et progressiva 16 tests
  • Essential fructosuria1 test
  • Essential hypertension10 tests
  • Essential pentosuria1 test
  • Estrogen resistance syndrome1 test
  • Ethylmalonic encephalopathy3 tests
  • Euthyroid goiter1 test
  • Ewing sarcoma2 tests
  • Exercise intolerance, riboflavin-responsive1 test
  • Exercise-induced hyperinsulinism2 tests
  • Exostoses, multiple, type 22 tests
  • Extraskeletal myxoid chondrosarcoma2 tests
  • Exudative vitreoretinopathy 12 tests
  • Exudative vitreoretinopathy 2, X-linked1 test
  • Exudative vitreoretinopathy 42 tests
  • Exudative vitreoretinopathy 51 test
  • Exudative vitreoretinopathy 61 test
  • Fabry disease5 tests
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
  • Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1 test
  • Facial paresis, hereditary congenital, 31 test
  • Facioscapulohumeral muscular dystrophy 21 test
  • Factor 5 and Factor VIII, combined deficiency of, 21 test
  • Factor H deficiency4 tests
  • Factor V and factor VIII, combined deficiency of, type 12 tests
  • Factor V deficiency2 tests
  • Factor VII deficiency1 test
  • Factor VIII deficiency1 test
  • Factor X deficiency2 tests
  • Factor XII deficiency disease2 tests
  • Factor XIII, A subunit, deficiency of1 test
  • Factor XIII, b subunit, deficiency of1 test
  • FADD-related immunodeficiency2 tests
  • Familial acute necrotizing encephalopathy2 tests
  • Familial adenomatous polyposis 17 tests
  • Familial adenomatous polyposis 22 tests
  • Familial adenomatous polyposis 31 test
  • Familial adenomatous polyposis 41 test
  • Familial amyloid nephropathy with urticaria AND deafness2 tests
  • Familial amyloid neuropathy1 test
  • Familial apolipoprotein C-II deficiency1 test
  • Familial atrial myxoma1 test
  • Familial benign flecked retina1 test
  • Familial benign pemphigus1 test
  • Familial cancer of breast37 tests
  • Familial cavitary optic disk anomaly1 test
  • Familial chronic mucocutaneous candidiasis2 tests
  • Familial clubfoot due to 17q23.1q23.2 microduplication2 tests
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial congenital nasolacrimal duct obstruction1 test
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome2 tests
  • Familial cylindromatosis2 tests
  • Familial digital arthropathy-brachydactyly1 test
  • Familial dysautonomia1 test
  • Familial dysfibrinogenemia10 tests
  • Familial encephalopathy with neuroserpin inclusion bodies2 tests
  • Familial episodic pain syndrome with predominantly lower limb involvement1 test
  • Familial episodic pain syndrome with predominantly upper body involvement1 test
  • Familial expansile osteolysis1 test
  • Familial gestational hyperthyroidism2 tests
  • Familial hemophagocytic lymphohistiocytosis 24 tests
  • Familial hemophagocytic lymphohistiocytosis 34 tests
  • Familial hemophagocytic lymphohistiocytosis 44 tests
  • Familial hemophagocytic lymphohistiocytosis 52 tests
  • Familial hyperaldosteronism type III1 test
  • Familial hyperprolactinemia1 test
  • Familial hyperthyroidism due to mutations in TSH receptor2 tests
  • Familial hypobetalipoproteinemia 11 test
  • Familial hypobetalipoproteinemia 21 test
  • Familial hypocalciuric hypercalcemia 14 tests
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypocalciuric hypercalcemia 31 test
  • Familial hypokalemia-hypomagnesemia4 tests
  • Familial hypoparathyroidism3 tests
  • Familial infantile myasthenia2 tests
  • Familial infantile myoclonic epilepsy1 test
  • Familial isolated congenital asplenia2 tests
  • Familial isolated deficiency of vitamin E1 test
  • Familial juvenile hyperuricemic nephropathy type 15 tests
  • Familial juvenile hyperuricemic nephropathy type 21 test
  • Familial Mediterranean fever2 tests
  • Familial Mediterranean fever, autosomal dominant2 tests
  • Familial medullary thyroid carcinoma3 tests
  • Familial meningioma7 tests
  • Familial multiple trichoepitheliomata1 test
  • Familial partial lipodystrophy, Dunnigan type2 tests
  • Familial porphyria cutanea tarda12 tests
  • Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome1 test
  • Familial pseudohyperkalemia1 test
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial renal glucosuria1 test
  • Familial retinal arterial macroaneurysm1 test
  • Familial scaphocephaly syndrome, McGillivray type2 tests
  • Familial spontaneous pneumothorax2 tests
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
  • Familial temporal lobe epilepsy 51 test
  • Familial temporal lobe epilepsy 71 test
  • Familial temporal lobe epilepsy 81 test
  • Familial thyroid dyshormonogenesis 11 test
  • Familial type 3 hyperlipoproteinemia2 tests
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial ventricular tachycardia2 tests
  • Familial visceral amyloidosis, Ostertag type4 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi anemia complementation group A4 tests
  • Fanconi anemia complementation group B4 tests
  • Fanconi anemia complementation group C2 tests
  • Fanconi anemia complementation group D12 tests
  • Fanconi anemia complementation group D24 tests
  • Fanconi anemia complementation group E2 tests
  • Fanconi anemia complementation group F2 tests
  • Fanconi anemia complementation group G2 tests
  • Fanconi anemia complementation group I2 tests
  • Fanconi anemia complementation group J4 tests
  • Fanconi anemia complementation group L2 tests
  • Fanconi anemia complementation group N4 tests
  • Fanconi anemia complementation group O2 tests
  • Fanconi anemia complementation group P2 tests
  • Fanconi anemia complementation group Q2 tests
  • Fanconi anemia complementation group R2 tests
  • Fanconi anemia complementation group T2 tests
  • Fanconi anemia complementation group U2 tests
  • Fanconi anemia complementation group V2 tests
  • Fanconi renotubular syndrome 22 tests
  • Fanconi renotubular syndrome 32 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young4 tests
  • Fanconi-Bickel syndrome2 tests
  • Farber lipogranulomatosis2 tests
  • Fasting plasma glucose level quantitative trait locus 51 test
  • Fatal familial insomnia1 test
  • Fatal infantile hypertonic myofibrillar myopathy2 tests
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 32 tests
  • Fatty acyl-CoA reductase 1 deficiency2 tests
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 41 test
  • Feingold syndrome type 22 tests
  • Female infertility due to zona pellucida defect1 test
  • Fetal akinesia deformation sequence 16 tests
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome2 tests
  • Fetal hemoglobin quantitative trait locus 120 tests
  • Fetal hemoglobin quantitative trait locus 62 tests
  • FG syndrome 12 tests
  • FG syndrome 24 tests
  • FG syndrome 48 tests
  • Fibrochondrogenesis 14 tests
  • Fibrochondrogenesis 22 tests
  • Fibromatosis, gingival, 11 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
  • Fibrosis of extraocular muscles, congenital, 51 test
  • Fibrous dysplasia of jaw1 test
  • Filippi syndrome2 tests
  • Finnish congenital nephrotic syndrome2 tests
  • Fish-eye disease2 tests
  • Fleck corneal dystrophy1 test
  • Floating-Harbor syndrome2 tests
  • Focal dermal hypoplasia2 tests
  • Focal facial dermal dysplasia type III2 tests
  • Focal facial dermal dysplasia type IV2 tests
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • 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 71 test
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 91 test
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
  • Foveal hypoplasia 12 tests
  • Fowler syndrome2 tests
  • Fragile X syndrome4 tests
  • Fragile X-associated tremor/ataxia syndrome2 tests
  • Frank-Ter Haar syndrome2 tests
  • Fraser syndrome 16 tests
  • Frasier syndrome4 tests
  • FRAXE2 tests
  • Freeman-Sheldon syndrome2 tests
  • Frias syndrome2 tests
  • Friedreich ataxia 14 tests
  • Frontometaphyseal dysplasia 13 tests
  • Frontometaphyseal dysplasia 22 tests
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome2 tests
  • Frontonasal dysplasia with alopecia and genital anomaly4 tests
  • Frontorhiny2 tests
  • Frontotemporal dementia4 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 32 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
  • Fructose-biphosphatase deficiency4 tests
  • Fucosidosis2 tests
  • Fucosyltransferase 6 deficiency2 tests
  • Fuhrmann syndrome2 tests
  • Fumarase deficiency4 tests
  • Galactosylceramide beta-galactosidase deficiency4 tests
  • Gallbladder disease 41 test
  • Galloway-Mowat syndrome 12 tests
  • Gamma-aminobutyric acid transaminase deficiency2 tests
  • Gamma-glutamylcysteine synthetase deficiency2 tests
  • GAPO syndrome2 tests
  • Gastric lymphoma1 test
  • Gastrointestinal stromal tumor6 tests
  • Gaucher disease due to saposin C deficiency2 tests
  • Gaucher disease perinatal lethal4 tests
  • Gaucher disease type I4 tests
  • Gaucher disease type II4 tests
  • Gaucher disease type III4 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome4 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 11 test
  • Geleophysic dysplasia 12 tests
  • Geleophysic dysplasia 24 tests
  • Generalized dominant dystrophic epidermolysis bullosa8 tests
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 24 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized epilepsy-paroxysmal dyskinesia syndrome2 tests
  • Generalized juvenile polyposis/juvenile polyposis coli6 tests
  • Generalized pustular psoriasis1 test
  • Genitopatellar syndrome2 tests
  • Geroderma osteodysplastica2 tests
  • Gerstmann-Straussler-Scheinker syndrome3 tests
  • Ghosal hematodiaphyseal dysplasia2 tests
  • Giant axonal neuropathy 11 test
  • Giant axonal neuropathy 21 test
  • Gilbert syndrome1 test
  • Gillespie syndrome2 tests
  • Gillessen-Kaesbach-Nishimura syndrome1 test
  • Glanzmann thrombasthenia5 tests
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 1, open angle, O1 test
  • Glaucoma 3, primary congenital, D1 test
  • Glaucoma 3, primary congenital, E1 test
  • Glaucoma 3A2 tests
  • Glaucoma, normal tension, susceptibility to3 tests
  • Glioma susceptibility 14 tests
  • Glioma susceptibility 22 tests
  • Glioma susceptibility 32 tests
  • Glioma susceptibility 91 test
  • Globozoospermia1 test
  • Glomerulopathy with fibronectin deposits 21 test
  • Glomuvenous malformation1 test
  • Glucocorticoid deficiency 11 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency 41 test
  • Glucocorticoid deficiency with achalasia2 tests
  • Glucocorticoid resistance1 test
  • Glucocorticoid therapy, response to1 test
  • Glucocorticoid-remediable aldosteronism1 test
  • Glucose-6-phosphate transport defect2 tests
  • Glutamate formiminotransferase deficiency2 tests
  • Glutamate pyruvate transaminase 2 deficiency2 tests
  • Glutaric aciduria, type 12 tests
  • Glutaryl-CoA oxidase deficiency2 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria1 test
  • Gluthathione peroxidase deficiency2 tests
  • Glycerol release during exercise, defective1 test
  • Glycine N-methyltransferase deficiency2 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
  • Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency1 test
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency2 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency2 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency2 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency2 tests
  • Glycogen storage disease IXa14 tests
  • Glycogen storage disease IXb2 tests
  • Glycogen storage disease IXc4 tests
  • Glycogen storage disease IXd2 tests
  • Glycogen storage disease type III4 tests
  • Glycogen storage disease type X2 tests
  • Glycogen storage disease XV2 tests
  • Glycogen storage disease, type II4 tests
  • Glycogen storage disease, type IV2 tests
  • Glycogen storage disease, type V3 tests
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII2 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
  • GM1 gangliosidosis type 22 tests
  • GM1 gangliosidosis type 32 tests
  • GM3 synthase deficiency1 test
  • Gnathodiaphyseal dysplasia4 tests
  • GNPTG-mucolipidosis2 tests
  • Goldberg-Shprintzen syndrome2 tests
  • Gonadotropin-independent familial sexual precocity2 tests
  • Gordon syndrome2 tests
  • Gorlin syndrome8 tests
  • GRACILE syndrome2 tests
  • Graft-versus-host disease, susceptibility to1 test
  • Grange syndrome2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 12 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 dysplasia2 tests
  • Greig cephalopolysyndactyly syndrome4 tests
  • Griscelli syndrome type 12 tests
  • Griscelli syndrome type 22 tests
  • Griscelli syndrome type 32 tests
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions3 tests
  • Groenouw corneal dystrophy type I1 test
  • Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome2 tests
  • Growth delay due to insulin-like growth factor I resistance1 test
  • Growth delay due to insulin-like growth factor type 1 deficiency2 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • GTP cyclohydrolase I deficiency4 tests
  • Guillain-Barre syndrome, familial4 tests
  • Guttmacher syndrome3 tests
  • H syndrome2 tests
  • Haim-Munk syndrome2 tests
  • Hajdu-Cheney syndrome2 tests
  • Hamartoma of hypothalamus2 tests
  • Hand-foot-genital syndrome1 test
  • Hartsfield-Bixler-Demyer syndrome4 tests
  • Hashimoto thyroiditis1 test
  • Hawkinsinuria2 tests
  • Hb SS disease4 tests
  • Hearing loss, X-linked 11 test
  • Hearing loss, X-linked 61 test
  • Heart defect - tongue hamartoma - polysyndactyly syndrome2 tests
  • Heart-hand syndrome, Slovenian type4 tests
  • Hecht syndrome2 tests
  • Heimler syndrome 11 test
  • Heimler syndrome 21 test
  • Heinz body anemia14 tests
  • Helicobacter pylori infection, susceptibility to2 tests
  • Helicoid peripapillary chorioretinal degeneration1 test
  • Heme oxygenase 1 deficiency2 tests
  • Hemochromatosis type 13 tests
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 42 tests
  • Hemochromatosis type 51 test
  • Hemoglobin H disease4 tests
  • Hemolytic anemia due to adenylate kinase deficiency2 tests
  • Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
  • Hemolytic anemia due to hexokinase deficiency3 tests
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
  • Hemolytic uremic syndrome, atypical, susceptibility to, 110 tests
  • Hemorrhage, intracerebral, susceptibility to4 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 12 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 23 tests
  • Heparin cofactor II deficiency1 test
  • Hepatic adenomas, familial1 test
  • Hepatic methionine adenosyltransferase deficiency4 tests
  • Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
  • Hepatitis B virus, susceptibility to3 tests
  • Hepatitis C virus, susceptibility to7 tests
  • Hepatocellular carcinoma8 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12 tests
  • Hereditary acrodermatitis enteropathica2 tests
  • Hereditary angioedema type 12 tests
  • Hereditary angioedema type 32 tests
  • Hereditary antithrombin deficiency2 tests
  • Hereditary arterial and articular multiple calcification syndrome1 test
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary coproporphyria8 tests
  • Hereditary cryohydrocytosis with reduced stomatin2 tests
  • Hereditary diffuse gastric adenocarcinoma5 tests
  • Hereditary diffuse leukoencephalopathy with spheroids2 tests
  • Hereditary factor IX deficiency disease4 tests
  • Hereditary factor VIII deficiency disease4 tests
  • Hereditary factor XI deficiency disease2 tests
  • Hereditary fructosuria4 tests
  • Hereditary hypercarotenemia and vitamin A deficiency2 tests
  • Hereditary hyperferritinemia with congenital cataracts2 tests
  • Hereditary hypotrichosis with recurrent skin vesicles1 test
  • Hereditary insensitivity to pain with anhidrosis2 tests
  • Hereditary intrinsic factor deficiency1 test
  • Hereditary leiomyomatosis and renal cell cancer2 tests
  • Hereditary liability to pressure palsies2 tests
  • Hereditary lymphedema type I2 tests
  • Hereditary motor and sensory neuropathy with optic atrophy2 tests
  • Hereditary motor and sensory neuropathy, Okinawa type1 test
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency2 tests
  • Hereditary pancreatitis8 tests
  • Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1 test
  • Hereditary sensory and autonomic neuropathy type 12 tests
  • Hereditary sensory and autonomic neuropathy type 61 test
  • Hereditary sensory and autonomic neuropathy type 71 test
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
  • Hereditary sensory neuropathy-deafness-dementia syndrome1 test
  • Hereditary spastic paraplegia 101 test
  • Hereditary spastic paraplegia 112 tests
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 152 tests
  • Hereditary spastic paraplegia 171 test
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 21 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 281 test
  • Hereditary spastic paraplegia 301 test
  • Hereditary spastic paraplegia 312 tests
  • Hereditary spastic paraplegia 332 tests
  • Hereditary spastic paraplegia 351 test
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 3A1 test
  • Hereditary spastic paraplegia 42 tests
  • Hereditary spastic paraplegia 421 test
  • Hereditary spastic paraplegia 431 test
  • 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 491 test
  • Hereditary spastic paraplegia 501 test
  • Hereditary spastic paraplegia 511 test
  • Hereditary spastic paraplegia 531 test
  • Hereditary spastic paraplegia 541 test
  • Hereditary spastic paraplegia 551 test
  • Hereditary spastic paraplegia 561 test
  • Hereditary spastic paraplegia 571 test
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 62 tests
  • Hereditary spastic paraplegia 611 test
  • Hereditary spastic paraplegia 621 test
  • Hereditary spastic paraplegia 631 test
  • Hereditary spastic paraplegia 641 test
  • Hereditary spastic paraplegia 72 tests
  • Hereditary spastic paraplegia 721 test
  • Hereditary spastic paraplegia 731 test
  • Hereditary spastic paraplegia 741 test
  • Hereditary spastic paraplegia 751 test
  • Hereditary spastic paraplegia 771 test
  • Hereditary spastic paraplegia 81 test
  • Hereditary spastic paraplegia 9A1 test
  • Hereditary spherocytosis type 11 test
  • Hereditary spherocytosis type 24 tests
  • Hereditary spherocytosis type 31 test
  • Hereditary spherocytosis type 41 test
  • Hereditary spherocytosis type 51 test
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12 tests
  • Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency2 tests
  • Hereditary xanthinuria type 12 tests
  • Hermansky-Pudlak syndrome 12 tests
  • Hermansky-Pudlak syndrome 102 tests
  • Hermansky-Pudlak syndrome 22 tests
  • Hermansky-Pudlak syndrome 32 tests
  • Hermansky-Pudlak syndrome 42 tests
  • Hermansky-Pudlak syndrome 52 tests
  • Hermansky-Pudlak syndrome 62 tests
  • Hermansky-Pudlak syndrome 72 tests
  • Hermansky-Pudlak syndrome 82 tests
  • Hermansky-Pudlak syndrome 92 tests
  • Herpes simplex encephalitis, susceptibility to, 12 tests
  • Herpes simplex encephalitis, susceptibility to, 32 tests
  • Herpes simplex encephalitis, susceptibility to, 42 tests
  • Heterotaxy, visceral, 1, X-linked8 tests
  • Heterotaxy, visceral, 2, autosomal2 tests
  • Heterotaxy, visceral, 4, autosomal4 tests
  • Heterotaxy, visceral, 5, autosomal4 tests
  • Heterotaxy, visceral, 6, autosomal2 tests
  • Heterotaxy, visceral, 7, autosomal2 tests
  • Heterotaxy, visceral, 8, autosomal2 tests
  • Heterotopia, periventricular, X-linked dominant6 tests
  • Hidrotic ectodermal dysplasia syndrome3 tests
  • High density lipoprotein cholesterol level quantitative trait locus 121 test
  • High density lipoprotein cholesterol level quantitative trait locus 61 test
  • High molecular weight kininogen deficiency2 tests
  • High myopia-sensorineural deafness syndrome1 test
  • Hip dysplasia, Beukes type1 test
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction2 tests
  • Hirschsprung disease, susceptibility to, 14 tests
  • Hirschsprung disease, susceptibility to, 24 tests
  • Hirschsprung disease, susceptibility to, 34 tests
  • Hirschsprung disease, susceptibility to, 44 tests
  • Histidinemia1 test
  • Histiocytic medullary reticulosis10 tests
  • HNSHA due to aldolase A deficiency2 tests
  • Hogue-Janssens syndrome 12 tests
  • Holocarboxylase synthetase deficiency2 tests
  • Holoprosencephaly 112 tests
  • Holoprosencephaly 24 tests
  • Holoprosencephaly 34 tests
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 54 tests
  • Holoprosencephaly 74 tests
  • Holoprosencephaly 91 test
  • Holt-Oram syndrome2 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency6 tests
  • Homozygous 11P15-p14 deletion syndrome2 tests
  • Houge-Janssens syndrome 22 tests
  • HSD10 mitochondrial disease4 tests
  • Human HOXA1 syndromes4 tests
  • Huntington disease1 test
  • Huntington disease-like 11 test
  • Huntington disease-like 21 test
  • Huppke-Brendel syndrome2 tests
  • Hurler syndrome4 tests
  • Hurthle cell carcinoma of thyroid1 test
  • Hutchinson-Gilford syndrome4 tests
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 12 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 22 tests
  • Hydrolethalus syndrome 12 tests
  • Hydrolethalus syndrome 22 tests
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2 tests
  • Hydroxyacyl glutathione hydrolase deficiency1 test
  • Hydroxykynureninuria2 tests
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
  • Hyper-IgM syndrome type 12 tests
  • Hyper-IgM syndrome type 22 tests
  • Hyper-IgM syndrome type 32 tests
  • Hyper-IgM syndrome type 52 tests
  • Hyperaldosteronism, familial, type IV1 test
  • Hyperalphalipoproteinemia 13 tests
  • Hyperammonemia, type III2 tests
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency2 tests
  • Hyperbiliverdinemia2 tests
  • Hypercalcemia, infantile, 12 tests
  • Hypercalcemia, infantile, 22 tests
  • Hypercholanemia, familial 13 tests
  • Hypercholesterolemia, autosomal dominant, 32 tests
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, familial, 112 tests
  • Hypercholesterolemia, familial, 41 test
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency2 tests
  • Hyperglycinuria6 tests
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperinsulinemic hypoglycemia, familial, 14 tests
  • Hyperinsulinemic hypoglycemia, familial, 22 tests
  • Hyperinsulinemic hypoglycemia, familial, 42 tests
  • Hyperinsulinism due to glucokinase deficiency4 tests
  • Hyperinsulinism due to INSR deficiency2 tests
  • Hyperinsulinism-hyperammonemia syndrome2 tests
  • Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
  • Hyperlipidemia, combined, 11 test
  • Hyperlipidemia, familial combined, LPL related2 tests
  • Hyperlipoproteinemia, type 1D1 test
  • Hyperlipoproteinemia, type I3 tests
  • Hyperlysinemia2 tests
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase2 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2 tests
  • Hyperparathyroidism 12 tests
  • Hyperparathyroidism 2 with jaw tumors4 tests
  • Hyperparathyroidism 41 test
  • Hyperphenylalaninemia due to DNAJC12 deficiency2 tests
  • Hyperphosphatasemia tarda2 tests
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with intellectual disability syndrome 12 tests
  • Hyperphosphatasia with intellectual disability syndrome 22 tests
  • Hyperphosphatasia with intellectual disability syndrome 32 tests
  • Hyperphosphatasia with intellectual disability syndrome 42 tests
  • Hyperphosphatasia with intellectual disability syndrome 52 tests
  • Hyperphosphatasia with intellectual disability syndrome 62 tests
  • Hyperpigmentation with or without hypopigmentation, familial progressive1 test
  • Hyperproinsulinemia1 test
  • Hyperprolinemia type 22 tests
  • Hypertension, diastolic, resistance to1 test
  • Hyperthyroxinemia, dystransthyretinemic1 test
  • Hyperthyroxinemia, familial dysalbuminemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type2 tests
  • Hypertriglyceridemia 12 tests
  • Hypertrophic cardiomyopathy 15 tests
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 111 test
  • Hypertrophic cardiomyopathy 121 test
  • Hypertrophic cardiomyopathy 131 test
  • Hypertrophic cardiomyopathy 141 test
  • Hypertrophic cardiomyopathy 151 test
  • Hypertrophic cardiomyopathy 161 test
  • Hypertrophic cardiomyopathy 171 test
  • Hypertrophic cardiomyopathy 181 test
  • Hypertrophic cardiomyopathy 22 tests
  • Hypertrophic cardiomyopathy 201 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypertrophic cardiomyopathy 262 tests
  • Hypertrophic cardiomyopathy 31 test
  • Hypertrophic cardiomyopathy 42 tests
  • Hypertrophic cardiomyopathy 61 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 91 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 13 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome2 tests
  • Hyperuricemic nephropathy, familial juvenile type 41 test
  • Hypoalphalipoproteinemia, primary, 14 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 17 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 19 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 24 without anosmia1 test
  • Hypogonadotropic hypogonadism 3 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome2 tests
  • Hypohidrotic X-linked ectodermal dysplasia4 tests
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy1 test
  • Hypokalemic periodic paralysis, type 12 tests
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomagnesemia, seizures, and intellectual disability 12 tests
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
  • Hypomyelinating leukodystrophy 102 tests
  • Hypomyelinating leukodystrophy 112 tests
  • Hypomyelinating leukodystrophy 122 tests
  • Hypomyelinating leukodystrophy 132 tests
  • Hypomyelinating leukodystrophy 22 tests
  • Hypomyelinating leukodystrophy 32 tests
  • Hypomyelinating leukodystrophy 42 tests
  • Hypomyelinating leukodystrophy 62 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2 tests
  • Hypomyelinating leukodystrophy 92 tests
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity2 tests
  • Hypoparathyroidism, deafness, renal disease syndrome4 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome2 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 11 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 21 test
  • Hypophosphatemic rickets, autosomal recessive, 11 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypophosphatemic rickets, X-linked recessive1 test
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome2 tests
  • Hypoplastic left heart syndrome 12 tests
  • Hypoplastic left heart syndrome 24 tests
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome2 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration4 tests
  • Hypoproteinemia, hypercatabolic2 tests
  • Hypospadias 1, X-linked4 tests
  • Hypospadias 2, X-linked2 tests
  • Hypothalamic hypothyroidism1 test
  • Hypothyroidism due to TSH receptor mutations2 tests
  • Hypothyroidism, congenital, nongoitrous, 22 tests
  • Hypothyroidism, congenital, nongoitrous, 52 tests
  • Hypotonia with lactic acidemia and hyperammonemia2 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
  • Hypotonia-cystinuria syndrome2 tests
  • Hypotonia-failure to thrive-microcephaly syndrome2 tests
  • Hypotrichosis 11 test
  • Hypotrichosis 111 test
  • Hypotrichosis 121 test
  • Hypotrichosis 131 test
  • Hypotrichosis 21 test
  • Hypotrichosis 31 test
  • Hypotrichosis 41 test
  • Hypotrichosis 61 test
  • Hypotrichosis 72 tests
  • Hypotrichosis 82 tests
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome2 tests
  • Hypouricemia, renal, 22 tests
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis hystrix of Curth-Macklin1 test
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis vulgaris2 tests
  • Ichthyosis, congenital, autosomal recessive 122 tests
  • Ichthyosis, hystrix-like, with hearing loss1 test
  • Idiopathic basal ganglia calcification 12 tests
  • Idiopathic CD4 lymphocytopenia3 tests
  • Idiopathic hypereosinophilic syndrome1 test
  • IFAP syndrome 1, with or without BRESHECK syndrome1 test
  • IgA nephropathy, susceptibility to, 31 test
  • IgE responsiveness, atopic8 tests
  • IL21-related infantile inflammatory bowel disease2 tests
  • IMAGe syndrome4 tests
  • Imerslund-Grasbeck syndrome4 tests
  • Iminoglycinuria6 tests
  • Immunodeficiency 1044 tests
  • Immunodeficiency 142 tests
  • Immunodeficiency 182 tests
  • Immunodeficiency 192 tests
  • Immunodeficiency 232 tests
  • Immunodeficiency 252 tests
  • Immunodeficiency 27A2 tests
  • Immunodeficiency 282 tests
  • Immunodeficiency 31B2 tests
  • Immunodeficiency 3310 tests
  • Immunodeficiency 352 tests
  • Immunodeficiency 362 tests
  • Immunodeficiency 373 tests
  • Immunodeficiency 392 tests
  • Immunodeficiency 452 tests
  • Immunodeficiency 472 tests
  • Immunodeficiency 492 tests
  • Immunodeficiency 512 tests
  • Immunodeficiency 672 tests
  • Immunodeficiency 83, susceptibility to viral infections2 tests
  • Immunodeficiency due to CD25 deficiency2 tests
  • Immunodeficiency due to ficolin3 deficiency2 tests
  • Immunodeficiency due to MASP-2 deficiency2 tests
  • Immunodeficiency, common variable, 12 tests
  • Immunodeficiency, common variable, 102 tests
  • Immunodeficiency, common variable, 122 tests
  • Immunodeficiency, common variable, 22 tests
  • 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-centromeric instability-facial anomalies syndrome 14 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 22 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 32 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 42 tests
  • Immunoglobulin A deficiency 22 tests
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis4 tests
  • Inborn glycerol kinase deficiency3 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 11 test
  • Incontinentia pigmenti syndrome2 tests
  • Increased analgesia from kappa-opioid receptor agonist, female-specific1 test
  • Infantile bilateral striatal necrosis2 tests
  • Infantile cerebellar-retinal degeneration2 tests
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly2 tests
  • Infantile convulsions and choreoathetosis1 test
  • Infantile cortical hyperostosis2 tests
  • Infantile GM1 gangliosidosis2 tests
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency2 tests
  • Infantile hypophosphatasia2 tests
  • Infantile liver failure syndrome 12 tests
  • Infantile liver failure syndrome 22 tests
  • Infantile nephronophthisis2 tests
  • Infantile neuroaxonal dystrophy4 tests
  • Infantile onset spinocerebellar ataxia4 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infantile-onset generalized dyskinesia with orofacial involvement1 test
  • Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
  • Infantile-onset X-linked spinal muscular atrophy2 tests
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Inflammatory bowel disease 12 tests
  • Inflammatory bowel disease 101 test
  • Inflammatory bowel disease 131 test
  • Inflammatory bowel disease 141 test
  • Inflammatory bowel disease 171 test
  • Inflammatory bowel disease 191 test
  • Inflammatory bowel disease 251 test
  • Inflammatory bowel disease 281 test
  • Inflammatory skin and bowel disease, neonatal, 11 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Influenza, severe, susceptibility to1 test
  • Inherited Creutzfeldt-Jakob disease4 tests
  • Inherited glutathione synthetase deficiency3 tests
  • Inherited susceptibility to asthma14 tests
  • Inosine triphosphatase deficiency1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder with autism and macrocephaly2 tests
  • Intellectual developmental disorder with dysmorphic facies and ptosis2 tests
  • Intellectual developmental disorder, autosomal recessive 742 tests
  • Intellectual disability, anterior maxillary protrusion, and strabismus2 tests
  • Intellectual disability, autosomal dominant 12 tests
  • Intellectual disability, autosomal dominant 102 tests
  • Intellectual disability, autosomal dominant 112 tests
  • Intellectual disability, autosomal dominant 132 tests
  • Intellectual disability, autosomal dominant 144 tests
  • Intellectual disability, autosomal dominant 152 tests
  • Intellectual disability, autosomal dominant 162 tests
  • Intellectual disability, autosomal dominant 209 tests
  • Intellectual disability, autosomal dominant 222 tests
  • Intellectual disability, autosomal dominant 242 tests
  • Intellectual disability, autosomal dominant 272 tests
  • Intellectual disability, autosomal dominant 292 tests
  • Intellectual disability, autosomal dominant 32 tests
  • Intellectual disability, autosomal dominant 302 tests
  • Intellectual disability, autosomal dominant 332 tests
  • Intellectual disability, autosomal dominant 342 tests
  • Intellectual disability, autosomal dominant 382 tests
  • Intellectual disability, autosomal dominant 392 tests
  • Intellectual disability, autosomal dominant 42 tests
  • Intellectual disability, autosomal dominant 402 tests
  • Intellectual disability, autosomal dominant 412 tests
  • Intellectual disability, autosomal dominant 422 tests
  • Intellectual disability, autosomal dominant 432 tests
  • Intellectual disability, autosomal dominant 52 tests
  • Intellectual disability, autosomal dominant 64 tests
  • Intellectual disability, autosomal dominant 82 tests
  • Intellectual disability, autosomal dominant 92 tests
  • Intellectual disability, autosomal recessive 12 tests
  • Intellectual disability, autosomal recessive 122 tests
  • Intellectual disability, autosomal recessive 132 tests
  • Intellectual disability, autosomal recessive 142 tests
  • Intellectual disability, autosomal recessive 182 tests
  • Intellectual disability, autosomal recessive 22 tests
  • Intellectual disability, autosomal recessive 272 tests
  • Intellectual disability, autosomal recessive 32 tests
  • Intellectual disability, autosomal recessive 342 tests
  • Intellectual disability, autosomal recessive 422 tests
  • Intellectual disability, autosomal recessive 432 tests
  • Intellectual disability, autosomal recessive 442 tests
  • Intellectual disability, autosomal recessive 452 tests
  • Intellectual disability, autosomal recessive 462 tests
  • Intellectual disability, autosomal recessive 472 tests
  • Intellectual disability, autosomal recessive 52 tests
  • Intellectual disability, autosomal recessive 502 tests
  • Intellectual disability, autosomal recessive 511 test
  • Intellectual disability, autosomal recessive 522 tests
  • Intellectual disability, autosomal recessive 532 tests
  • Intellectual disability, autosomal recessive 542 tests
  • Intellectual disability, autosomal recessive 562 tests
  • Intellectual disability, autosomal recessive 572 tests
  • Intellectual disability, autosomal recessive 582 tests
  • Intellectual disability, autosomal recessive 592 tests
  • Intellectual disability, autosomal recessive 62 tests
  • Intellectual disability, autosomal recessive 72 tests
  • Intellectual disability, FRA12A type2 tests
  • Intellectual disability, X-linked 12 tests
  • Intellectual disability, X-linked 1002 tests
  • Intellectual disability, X-linked 1012 tests
  • Intellectual disability, X-linked 1022 tests
  • Intellectual disability, X-linked 1032 tests
  • Intellectual disability, X-linked 1042 tests
  • Intellectual disability, X-linked 1052 tests
  • Intellectual disability, X-linked 196 tests
  • Intellectual disability, X-linked 212 tests
  • Intellectual disability, X-linked 302 tests
  • Intellectual disability, X-linked 412 tests
  • Intellectual disability, X-linked 462 tests
  • Intellectual disability, X-linked 493 tests
  • Intellectual disability, X-linked 582 tests
  • Intellectual disability, X-linked 612 tests
  • Intellectual disability, X-linked 632 tests
  • Intellectual disability, X-linked 722 tests
  • Intellectual disability, X-linked 92 tests
  • Intellectual disability, X-linked 902 tests
  • Intellectual disability, X-linked 912 tests
  • Intellectual disability, X-linked 932 tests
  • Intellectual disability, X-linked 962 tests
  • Intellectual disability, X-linked 972 tests
  • Intellectual disability, X-linked 992 tests
  • Intellectual disability, X-linked 99, syndromic, female-restricted2 tests
  • Intellectual disability, X-linked, syndromic 332 tests
  • Intellectual disability, X-linked, syndromic, Bain type2 tests
  • Intellectual disability, X-linked, with or without seizures, arx-related4 tests
  • Intellectual disability, X-linked, with panhypopituitarism2 tests
  • Intellectual disability-epilepsy-extrapyramidal syndrome2 tests
  • Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2 tests
  • Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome2 tests
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2 tests
  • Intellectual disability-hypotonic facies syndrome, X-linked, 14 tests
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2 tests
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome2 tests
  • Intellectual disability-strabismus syndrome2 tests
  • Interleukin 6, serum level of, quantitative trait locus1 test
  • Interstitial lung disease 23 tests
  • Interstitial lung disease due to ABCA3 deficiency2 tests
  • Intervertebral disc disorder3 tests
  • Intestinal hypomagnesemia 11 test
  • Intestinal pseudo-obstruction2 tests
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked6 tests
  • Invasive pneumococcal disease, recurrent isolated3 tests
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect1 test
  • Irido-corneo-trabecular dysgenesis4 tests
  • Ischemic stroke6 tests
  • Isolated cleft palate2 tests
  • Isolated congenital digital clubbing1 test
  • Isolated focal non-epidermolytic palmoplantar keratoderma1 test
  • Isolated growth hormone deficiency type IB4 tests
  • Isolated hyperchlorhidrosis1 test
  • Isolated lutropin deficiency1 test
  • Isolated microphthalmia 21 test
  • Isolated microphthalmia 31 test
  • Isolated microphthalmia 41 test
  • Isolated microphthalmia 51 test
  • Isolated microphthalmia 61 test
  • Isolated microphthalmia 71 test
  • Isolated microphthalmia 81 test
  • Isolated optic nerve hypoplasia2 tests
  • Isolated thyroid-stimulating hormone deficiency1 test
  • Isovaleryl-CoA dehydrogenase deficiency2 tests
  • Jackson-Weiss syndrome6 tests
  • Jalili syndrome2 tests
  • Jawad syndrome3 tests
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Johanson-Blizzard syndrome2 tests
  • Joubert syndrome 12 tests
  • Joubert syndrome 102 tests
  • Joubert syndrome 132 tests
  • Joubert syndrome 142 tests
  • Joubert syndrome 152 tests
  • Joubert syndrome 162 tests
  • Joubert syndrome 172 tests
  • Joubert syndrome 182 tests
  • Joubert syndrome 22 tests
  • Joubert syndrome 202 tests
  • Joubert syndrome 212 tests
  • Joubert syndrome 222 tests
  • Joubert syndrome 232 tests
  • Joubert syndrome 242 tests
  • Joubert syndrome 252 tests
  • Joubert syndrome 262 tests
  • Joubert syndrome 272 tests
  • Joubert syndrome 282 tests
  • Joubert syndrome 32 tests
  • Joubert syndrome 54 tests
  • Joubert syndrome 62 tests
  • Joubert syndrome 72 tests
  • Joubert syndrome 82 tests
  • Joubert syndrome 92 tests
  • Joubert syndrome with renal defect4 tests
  • Junctional epidermolysis bullosa gravis of Herlitz12 tests
  • Junctional epidermolysis bullosa with pyloric atresia3 tests
  • Junctional epidermolysis bullosa, non-Herlitz type18 tests
  • Juvenile cataract-microcornea-renal glucosuria syndrome1 test
  • Juvenile myelomonocytic leukemia6 tests
  • Juvenile myoclonic epilepsy2 tests
  • Juvenile nephropathic cystinosis4 tests
  • Juvenile onset Parkinson disease 19A2 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
  • Juvenile primary lateral sclerosis1 test
  • Juvenile retinoschisis1 test
  • Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome1 test
  • Kabuki syndrome 14 tests
  • Kabuki syndrome 24 tests
  • Kahrizi syndrome2 tests
  • Kallikrein, decreased urinary activity of1 test
  • Kaposi sarcoma1 test
  • Kartagener syndrome2 tests
  • Karyomegalic interstitial nephritis1 test
  • KBG syndrome2 tests
  • Kennedy disease1 test
  • Keppen-Lubinsky syndrome2 tests
  • Keratoconus 11 test
  • Keratosis follicularis2 tests
  • Keratosis follicularis spinulosa decalvans, X-linked2 tests
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
  • Keratosis palmoplantaris striata 22 tests
  • Keratosis palmoplantaris striata 31 test
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency2 tests
  • Keutel syndrome2 tests
  • Kindler syndrome1 test
  • Kleefstra syndrome 12 tests
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome2 tests
  • Klippel-Feil syndrome 1, autosomal dominant2 tests
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-Feil syndrome 3, autosomal dominant2 tests
  • Kniest dysplasia4 tests
  • Knobloch syndrome2 tests
  • KNOPS BLOOD GROUP SYSTEM3 tests
  • Knuckle pads, deafness AND leukonychia syndrome2 tests
  • Koolen-de Vries syndrome2 tests
  • Kostmann syndrome2 tests
  • Krabbe disease due to saposin A deficiency2 tests
  • Kufor-Rakeb syndrome1 test
  • Kugelberg-Welander disease8 tests
  • Kuru, susceptibility to1 test
  • L-2-hydroxyglutaric aciduria4 tests
  • L-ferritin deficiency1 test
  • Lafora disease8 tests
  • Lamb-Shaffer syndrome2 tests
  • LAMB2-related infantile-onset nephrotic syndrome2 tests
  • Landau-Kleffner syndrome4 tests
  • Langer mesomelic dysplasia syndrome4 tests
  • Langer-Giedion syndrome2 tests
  • Large congenital melanocytic nevus2 tests
  • Laron-type isolated somatotropin defect3 tests
  • Larsen syndrome4 tests
  • Larsen-like syndrome, B3GAT3 type2 tests
  • Laryngo-onycho-cutaneous syndrome4 tests
  • Late-onset retinal degeneration1 test
  • Lateral meningocele syndrome4 tests
  • Lathosterolosis2 tests
  • Lattice corneal dystrophy Type I1 test
  • Lattice corneal dystrophy Type III1 test
  • Laurence-Moon syndrome2 tests
  • Laurin-Sandrow syndrome2 tests
  • LCAT deficiency2 tests
  • Leber congenital amaurosis 12 tests
  • Leber congenital amaurosis 102 tests
  • Leber congenital amaurosis 112 tests
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 132 tests
  • Leber congenital amaurosis 143 tests
  • Leber congenital amaurosis 151 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 171 test
  • Leber congenital amaurosis 22 tests
  • Leber congenital amaurosis 32 tests
  • Leber congenital amaurosis 46 tests
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 62 tests
  • Leber congenital amaurosis 72 tests
  • Leber congenital amaurosis 82 tests
  • Leber congenital amaurosis 91 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 104 tests
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 82 tests
  • Legg-Calve-Perthes disease2 tests
  • Legionnaire disease, susceptibility to1 test
  • Legius syndrome2 tests
  • Leigh syndrome36 tests
  • Lenz-Majewski hyperostosis syndrome2 tests
  • LEOPARD syndrome 12 tests
  • LEOPARD syndrome 22 tests
  • LEOPARD syndrome 32 tests
  • Leprechaunism syndrome2 tests
  • Leprosy, susceptibility to, 21 test
  • Leprosy, susceptibility to, 31 test
  • Leprosy, susceptibility to, 41 test
  • Leprosy, susceptibility to, 52 tests
  • Leri-Weill dyschondrosteosis2 tests
  • Lesch-Nyhan syndrome4 tests
  • Lethal acantholytic epidermolysis bullosa4 tests
  • Lethal arthrogryposis-anterior horn cell disease syndrome2 tests
  • Lethal congenital contracture syndrome 12 tests
  • Lethal congenital contracture syndrome 112 tests
  • Lethal congenital contracture syndrome 22 tests
  • Lethal congenital contracture syndrome 32 tests
  • Lethal congenital contracture syndrome 42 tests
  • Lethal congenital contracture syndrome 62 tests
  • Lethal congenital contracture syndrome 72 tests
  • Lethal congenital contracture syndrome 82 tests
  • Lethal congenital contracture syndrome 92 tests
  • Lethal congenital glycogen storage disease of heart2 tests
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome2 tests
  • Lethal Kniest-like syndrome2 tests
  • Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome2 tests
  • Lethal multiple pterygium syndrome6 tests
  • Lethal occipital encephalocele-skeletal dysplasia syndrome2 tests
  • Lethal osteosclerotic bone dysplasia2 tests
  • Lethal polymalformative syndrome, Boissel type2 tests
  • Lethal tight skin contracture syndrome4 tests
  • Leucine-induced hypoglycemia2 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukocyte adhesion deficiency 12 tests
  • Leukocyte adhesion deficiency 32 tests
  • Leukocyte adhesion deficiency type II2 tests
  • Leukodystrophy and acquired microcephaly with or without dystonia;2 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema2 tests
  • Leukoencephalopathy, progressive, with ovarian failure2 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome2 tests
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
  • Leukonychia totalis1 test
  • Levy-Hollister syndrome10 tests
  • Lewy body dementia7 tests
  • Leydig cell agenesis2 tests
  • Li-Fraumeni syndrome 13 tests
  • Li-Fraumeni syndrome 24 tests
  • Lichtenstein-Knorr syndrome1 test
  • Liddle syndrome 14 tests
  • Limb-girdle muscular dystrophy due to POMK deficiency2 tests
  • Limb-mammary syndrome2 tests
  • Linear nevus sebaceous syndrome5 tests
  • Linear skin defects with multiple congenital anomalies 12 tests
  • Linear skin defects with multiple congenital anomalies 33 tests
  • Lipase deficiency, combined1 test
  • LIPE-related familial partial lipodystrophy1 test
  • Lipid proteinosis2 tests
  • Lipoic acid synthetase deficiency2 tests
  • Lipoprotein glomerulopathy1 test
  • Lipoyl transferase 1 deficiency2 tests
  • Lissencephaly 42 tests
  • Lissencephaly 6 with microcephaly2 tests
  • Lissencephaly 7 with cerebellar hypoplasia2 tests
  • Lissencephaly 82 tests
  • Lissencephaly due to LIS1 mutation4 tests
  • Lissencephaly due to TUBA1A mutation2 tests
  • Lissencephaly type 1 due to doublecortin gene mutation8 tests
  • Loeys-Dietz syndrome 14 tests
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 42 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency5 tests
  • Long QT syndrome 12 tests
  • Long QT syndrome 102 tests
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 141 test
  • Long QT syndrome 151 test
  • Long QT syndrome 25 tests
  • Long QT syndrome 32 tests
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 92 tests
  • Loricrin keratoderma2 tests
  • Low density lipoprotein cholesterol level quantitative trait locus 61 test
  • Low phospholipid associated cholelithiasis2 tests
  • Lowe syndrome2 tests
  • Lower motor neuron syndrome with late-adult onset2 tests
  • Lucey-Driscoll syndrome1 test
  • Lung carcinoma18 tests
  • Lung disease, immunodeficiency, and chromosome breakage syndrome;2 tests
  • Luscan-Lumish syndrome2 tests
  • Lymphangiomyomatosis3 tests
  • Lymphatic malformation 32 tests
  • Lymphatic malformation 42 tests
  • Lymphatic malformation 62 tests
  • Lymphatic malformation 72 tests
  • Lymphedema-posterior choanal atresia syndrome2 tests
  • Lymphoproliferative syndrome 12 tests
  • Lymphoproliferative syndrome 22 tests
  • Lynch syndrome 11 test
  • Lynch syndrome 41 test
  • Lynch syndrome 51 test
  • Lynch syndrome 81 test
  • Lysinuric protein intolerance2 tests
  • Lysosomal acid lipase deficiency4 tests
  • Macrocephaly, dysmorphic facies, and psychomotor retardation2 tests
  • Macrocephaly-autism syndrome4 tests
  • Macrocephaly-developmental delay syndrome2 tests
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2 tests
  • Macrocephaly/megalencephaly syndrome, autosomal recessive2 tests
  • Macroglobulinemia, Waldenstrom, 11 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
  • Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome2 tests
  • Macular corneal dystrophy1 test
  • Macular degeneration, age-related, 32 tests
  • Macular degeneration, early-onset1 test
  • Macular degeneration, X-linked atrophic2 tests
  • Macular dystrophy with central cone involvement1 test
  • Majeed syndrome2 tests
  • Major affective disorder 71 test
  • Major depressive disorder5 tests
  • Malan overgrowth syndrome2 tests
  • Malaria, mild, susceptibility to1 test
  • Malaria, susceptibility to15 tests
  • Malignant hyperthermia, susceptibility to, 16 tests
  • Malignant hyperthermia, susceptibility to, 52 tests
  • Malignant tumor of esophagus6 tests
  • Malignant tumor of prostate16 tests
  • Malignant tumor of testis3 tests
  • Malignant tumor of urinary bladder4 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome1 test
  • Mandibuloacral dysplasia with type A lipodystrophy2 tests
  • Mandibuloacral dysplasia with type B lipodystrophy4 tests
  • Mandibulofacial dysostosis with alopecia2 tests
  • Mandibulofacial dysostosis-microcephaly syndrome2 tests
  • Mannose-binding lectin deficiency2 tests
  • Maple syrup urine disease6 tests
  • Maple syrup urine disease, mild variant2 tests
  • Marden-Walker syndrome2 tests
  • Marfan syndrome2 tests
  • Marinesco-Sjögren syndrome2 tests
  • Marshall syndrome4 tests
  • Marshall-Smith syndrome2 tests
  • Martsolf syndrome2 tests
  • MASA syndrome4 tests
  • MASS syndrome2 tests
  • Mast syndrome1 test
  • Mastocytosis1 test
  • Maternal riboflavin deficiency2 tests
  • Matthew-Wood syndrome2 tests
  • Maturity-onset diabetes of the young type 12 tests
  • Maturity-onset diabetes of the young type 101 test
  • Maturity-onset diabetes of the young type 111 test
  • Maturity-onset diabetes of the young type 131 test
  • Maturity-onset diabetes of the young type 141 test
  • Maturity-onset diabetes of the young type 22 tests
  • Maturity-onset diabetes of the young type 32 tests
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 91 test
  • McCune-Albright syndrome1 test
  • McKusick-Kaufman syndrome2 tests
  • McLeod neuroacanthocytosis syndrome2 tests
  • Meacham syndrome4 tests
  • Meckel syndrome, type 12 tests
  • Meckel syndrome, type 102 tests
  • Meckel syndrome, type 112 tests
  • Meckel syndrome, type 22 tests
  • Meckel syndrome, type 32 tests
  • Meckel syndrome, type 44 tests
  • Meckel syndrome, type 52 tests
  • Meckel syndrome, type 62 tests
  • Meckel syndrome, type 82 tests
  • Meckel syndrome, type 92 tests
  • Meconium ileus2 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
  • MEDNIK syndrome2 tests
  • Medulloblastoma5 tests
  • Meester-Loeys syndrome2 tests
  • Megaconial type congenital muscular dystrophy2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 14 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2 tests
  • Megalencephaly-capillary malformation-polymicrogyria syndrome2 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 22 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
  • MEGF10-related myopathy2 tests
  • MEGF8-related Carpenter syndrome2 tests
  • Meier-Gorlin syndrome 12 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 52 tests
  • Meier-Gorlin syndrome 62 tests
  • Meier-Gorlin syndrome 72 tests
  • Melanoma and neural system tumor syndrome4 tests
  • Melanoma, cutaneous malignant, susceptibility to, 11 test
  • Melanoma, cutaneous malignant, susceptibility to, 22 tests
  • Melanoma, cutaneous malignant, susceptibility to, 32 tests
  • Melanoma, cutaneous malignant, susceptibility to, 51 test
  • Melanoma, cutaneous malignant, susceptibility to, 61 test
  • Melanoma, cutaneous malignant, susceptibility to, 82 tests
  • Melanoma, cutaneous malignant, susceptibility to, 92 tests
  • Melanoma-pancreatic cancer syndrome2 tests
  • Melioidosis, susceptibility to2 tests
  • Melnick-Needles syndrome4 tests
  • Melorheostosis2 tests
  • MEND syndrome2 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency2 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency2 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency2 tests
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency3 tests
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency2 tests
  • Menkes kinky-hair syndrome4 tests
  • Menstrual cycle-dependent periodic fever1 test
  • Meretoja syndrome1 test
  • Merosin deficient congenital muscular dystrophy4 tests
  • Mesoaxial synostotic syndactyly with phalangeal reduction1 test
  • Mesothelioma, malignant2 tests
  • Metabolic myopathy due to lactate transporter defect1 test
  • Metabolic syndrome X1 test
  • Metachondromatosis2 tests
  • Metachromatic leukodystrophy2 tests
  • Metaphyseal anadysplasia 22 tests
  • Metaphyseal chondrodysplasia, Jansen type2 tests
  • Metaphyseal chondrodysplasia, McKusick type2 tests
  • Metaphyseal chondrodysplasia, Schmid type3 tests
  • Metaphyseal chondrodysplasia, Spahr type2 tests
  • Metaphyseal dysplasia without hypotrichosis2 tests
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome4 tests
  • Metatropic dysplasia2 tests
  • Methemoglobinemia type 42 tests
  • Methylcobalamin deficiency type cblE2 tests
  • Methylcobalamin deficiency type cblG2 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency2 tests
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency2 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 cblD6 tests
  • Methylmalonic aciduria and homocystinuria type cblF2 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
  • Methylmalonic aciduria, cblA type2 tests
  • Methylmalonic aciduria, cblB type2 tests
  • Mevalonic aciduria2 tests
  • MGAT2-congenital disorder of glycosylation2 tests
  • MHC class I deficiency8 tests
  • MHC class II deficiency8 tests
  • Microcephalic osteodysplastic primordial dwarfism type II2 tests
  • Microcephalic primordial dwarfism due to RTTN deficiency2 tests
  • Microcephalic primordial dwarfism due to ZNF335 deficiency2 tests
  • Microcephalic primordial dwarfism, Alazami type2 tests
  • Microcephaly 1, primary, autosomal recessive4 tests
  • Microcephaly 11, primary, autosomal recessive2 tests
  • Microcephaly 12, primary, autosomal recessive2 tests
  • Microcephaly 13, primary, autosomal recessive2 tests
  • Microcephaly 14, primary, autosomal recessive2 tests
  • Microcephaly 15, primary, autosomal recessive2 tests
  • Microcephaly 16, primary, autosomal recessive2 tests
  • Microcephaly 17, primary, autosomal recessive2 tests
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
  • Microcephaly 3, primary, autosomal recessive4 tests
  • Microcephaly 4, primary, autosomal recessive2 tests
  • Microcephaly 5, primary, autosomal recessive4 tests
  • Microcephaly 6, primary, autosomal recessive4 tests
  • Microcephaly 7, primary, autosomal recessive4 tests
  • Microcephaly 8, primary, autosomal recessive2 tests
  • Microcephaly 9, primary, autosomal recessive2 tests
  • Microcephaly and chorioretinopathy 12 tests
  • Microcephaly and chorioretinopathy 22 tests
  • Microcephaly and chorioretinopathy 32 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability2 tests
  • Microcephaly, epilepsy, and diabetes syndrome2 tests
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcephaly, seizures, and developmental delay2 tests
  • Microcephaly, short stature, and impaired glucose metabolism 12 tests
  • Microcephaly, short stature, and impaired glucose metabolism 22 tests
  • Microcephaly-capillary malformation syndrome2 tests
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2 tests
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2 tests
  • Microcephaly-thin corpus callosum-intellectual disability syndrome2 tests
  • Microcornea-myopic chorioretinal atrophy1 test
  • Microcytic anemia1 test
  • Microcytic anemia with liver iron overload1 test
  • Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2 tests
  • Microphthalmia with brain and digit anomalies2 tests
  • Microphthalmia with limb anomalies2 tests
  • Microphthalmia, isolated, with coloboma 101 test
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 54 tests
  • Microphthalmia, isolated, with coloboma 64 tests
  • Microphthalmia, isolated, with coloboma 71 test
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 12 tests
  • Microphthalmia, syndromic 111 test
  • Microphthalmia, syndromic 121 test
  • Microspherophakia1 test
  • Microvascular complications of diabetes, susceptibility to, 11 test
  • Microvascular complications of diabetes, susceptibility to, 21 test
  • Microvascular complications of diabetes, susceptibility to, 41 test
  • Microvascular complications of diabetes, susceptibility to, 54 tests
  • Microvascular complications of diabetes, susceptibility to, 61 test
  • Microvascular complications of diabetes, susceptibility to, 72 tests
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2 tests
  • Migraine5 tests
  • Migraine, familial hemiplegic, 14 tests
  • Migraine, familial hemiplegic, 21 test
  • Migraine, familial hemiplegic, 32 tests
  • Migraine, with or without aura, susceptibility to, 131 test
  • Miller Dieker syndrome2 tests
  • Miller syndrome2 tests
  • MIRAGE syndrome2 tests
  • Mirror movements 11 test
  • Mirror movements 21 test
  • Mirror movements 31 test
  • Mismatch repair cancer syndrome 115 tests
  • Mitochondrial complex I deficiency, nuclear type 133 tests
  • Mitochondrial complex II deficiency, nuclear type 110 tests
  • Mitochondrial complex III deficiency nuclear type 12 tests
  • Mitochondrial complex III deficiency nuclear type 22 tests
  • Mitochondrial complex III deficiency nuclear type 32 tests
  • Mitochondrial complex III deficiency nuclear type 42 tests
  • Mitochondrial complex III deficiency nuclear type 52 tests
  • Mitochondrial complex III deficiency nuclear type 62 tests
  • Mitochondrial complex III deficiency nuclear type 72 tests
  • Mitochondrial complex III deficiency nuclear type 82 tests
  • Mitochondrial complex III deficiency nuclear type 92 tests
  • Mitochondrial complex IV deficiency, nuclear type 122 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 32 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B2 tests
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 14 tests
  • Mitochondrial DNA deletion syndrome with progressive myopathy2 tests
  • Mitochondrial DNA depletion syndrome 12 tests
  • Mitochondrial DNA depletion syndrome 112 tests
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant4 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive4 tests
  • Mitochondrial DNA depletion syndrome 132 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)2 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)4 tests
  • Mitochondrial DNA depletion syndrome 4b4 tests
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)4 tests
  • Mitochondrial DNA depletion syndrome 8a8 tests
  • Mitochondrial DNA depletion syndrome 94 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria4 tests
  • Mitochondrial DNA depletion syndrome, myopathic form4 tests
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency2 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome2 tests
  • Mitochondrial pyruvate carrier deficiency2 tests
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency2 tests
  • Mitochondrial trifunctional protein deficiency3 tests
  • Mitral valve prolapse, myxomatous 21 test
  • Miyoshi muscular dystrophy 14 tests
  • Miyoshi muscular dystrophy 34 tests
  • MOGS-congenital disorder of glycosylation2 tests
  • Monocytopenia with susceptibility to infections4 tests
  • MORM syndrome2 tests
  • Mosaic variegated aneuploidy syndrome 11 test
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mowat-Wilson syndrome2 tests
  • Moyamoya disease 21 test
  • Moyamoya disease 51 test
  • Moyamoya disease with early-onset achalasia1 test
  • MPDU1-congenital disorder of glycosylation2 tests
  • MPI-congenital disorder of glycosylation2 tests
  • Mucolipidosis type II2 tests
  • Mucolipidosis type IV2 tests
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 72 tests
  • Mucopolysaccharidosis, MPS-I-H/S2 tests
  • Mucopolysaccharidosis, MPS-I-S2 tests
  • Mucopolysaccharidosis, MPS-II4 tests
  • Mucopolysaccharidosis, MPS-III-A2 tests
  • Mucopolysaccharidosis, MPS-III-B2 tests
  • Mucopolysaccharidosis, MPS-III-C2 tests
  • Mucopolysaccharidosis, MPS-III-D2 tests
  • Mucopolysaccharidosis, MPS-IV-A2 tests
  • Mucopolysaccharidosis, MPS-IV-B2 tests
  • Muenke syndrome4 tests
  • Muir-Torré syndrome2 tests
  • Mulibrey nanism syndrome2 tests
  • Mullerian aplasia and hyperandrogenism2 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
  • Multicentric osteolysis nodulosis arthropathy spectrum3 tests
  • Multiple acyl-CoA dehydrogenase deficiency6 tests
  • Multiple benign circumferential skin creases on limbs 12 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 12 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 32 tests
  • Multiple congenital exostosis2 tests
  • Multiple endocrine neoplasia type 2A2 tests
  • Multiple endocrine neoplasia type 2B2 tests
  • Multiple endocrine neoplasia type 42 tests
  • Multiple endocrine neoplasia, type 18 tests
  • Multiple epiphyseal dysplasia type 42 tests
  • Multiple epiphyseal dysplasia, Al-Gazali type2 tests
  • Multiple epiphyseal dysplasia, Beighton type4 tests
  • Multiple fibroadenoma of the breast1 test
  • Multiple gastrointestinal atresias1 test
  • Multiple mitochondrial dysfunctions syndrome 12 tests
  • Multiple mitochondrial dysfunctions syndrome 22 tests
  • Multiple mitochondrial dysfunctions syndrome 32 tests
  • Multiple mitochondrial dysfunctions syndrome 42 tests
  • Multiple myeloma2 tests
  • Multiple sclerosis, susceptibility to3 tests
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple self-healing squamous epithelioma2 tests
  • Multiple sulfatase deficiency2 tests
  • Multiple synostoses syndrome 21 test
  • Multiple synostoses syndrome 31 test
  • Multiple system atrophy1 test
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Muscle AMP deaminase deficiency2 tests
  • Muscle eye brain disease4 tests
  • 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, 122 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 44 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 72 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 82 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A18 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 A54 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A62 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A92 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B142 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B24 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B34 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B44 tests
  • Muscular dystrophy-dystroglycanopathy type B54 tests
  • Muscular dystrophy-dystroglycanopathy type B62 tests
  • Mutilating keratoderma1 test
  • Myasthenic syndrome, congenital, 1B, fast-channel2 tests
  • Myasthenic syndrome, congenital, 222 tests
  • Myasthenic syndrome, slow-channel congenital2 tests
  • Mycobacterium tuberculosis, susceptibility to13 tests
  • Myelodysplastic syndrome5 tests
  • Myelodysplastic syndrome associated with isolated del(5q)2 tests
  • Myeloid neoplasm associated with FGFR1 rearrangement2 tests
  • Myeloperoxidase deficiency2 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • MYH7-related skeletal myopathy4 tests
  • Myhre syndrome4 tests
  • Myocardial infarction 112 tests
  • Myoclonic dystonia 112 tests
  • Myoclonic dystonia 261 test
  • Myoclonic-astatic epilepsy1 test
  • Myoclonus, familial, 11 test
  • Myoclonus, intractable, neonatal1 test
  • Myofibrillar myopathy 22 tests
  • Myofibrillar myopathy 38 tests
  • Myofibrillar myopathy 42 tests
  • Myofibrillar myopathy 52 tests
  • Myofibrillar myopathy 64 tests
  • Myofibrillar myopathy 72 tests
  • Myofibrillar myopathy 82 tests
  • Myofibromatosis, infantile, 11 test
  • Myofibromatosis, infantile, 22 tests
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myopathy due to calsequestrin and SERCA1 protein overload2 tests
  • Myopathy with abnormal lipid metabolism1 test
  • Myopathy, centronuclear, 22 tests
  • Myopathy, centronuclear, 52 tests
  • Myopathy, distal, 52 tests
  • Myopathy, distal, with rimmed vacuoles1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 12 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 22 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure2 tests
  • Myopathy, myosin storage, autosomal recessive4 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, reducing body, X-linked, childhood-onset3 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Myopathy, tubular aggregate, 12 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 61 test
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosclerosis2 tests
  • Myosin storage myopathy6 tests
  • Myostatin-related muscle hypertrophy2 tests
  • Myotonic dystrophy type 21 test
  • MYPN-related myopathy2 tests
  • Myxoid liposarcoma2 tests
  • N-acetylaspartate deficiency2 tests
  • Naegeli-Franceschetti-Jadassohn syndrome4 tests
  • Nager syndrome2 tests
  • Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome2 tests
  • Nail-patella syndrome4 tests
  • Namaqualand hip dysplasia2 tests
  • Nance-Horan syndrome2 tests
  • Nanophthalmos 21 test
  • Nanophthalmos 41 test
  • Narcolepsy 11 test
  • Narcolepsy 71 test
  • Nasopharyngeal carcinoma5 tests
  • Naxos disease2 tests
  • NDE1-related microhydranencephaly1 test
  • NEK9-related lethal skeletal dysplasia2 tests
  • Nemaline myopathy 102 tests
  • Nemaline myopathy 22 tests
  • Nemaline myopathy 52 tests
  • Nemaline myopathy 62 tests
  • Nemaline myopathy 72 tests
  • Nemaline myopathy 82 tests
  • Nemaline myopathy 92 tests
  • Neonatal diabetes mellitus with congenital hypothyroidism2 tests
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome2 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal intrahepatic cholestasis due to citrin deficiency2 tests
  • Neonatal severe primary hyperparathyroidism2 tests
  • Neonatal-onset encephalopathy with rigidity and seizures2 tests
  • Neoplasm of ovary5 tests
  • Neoplasm of stomach8 tests
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephrolithiasis, uric acid, susceptibility to1 test
  • Nephronophthisis 14 tests
  • Nephronophthisis 112 tests
  • Nephronophthisis 122 tests
  • Nephronophthisis 132 tests
  • Nephronophthisis 144 tests
  • Nephronophthisis 152 tests
  • Nephronophthisis 162 tests
  • Nephronophthisis 182 tests
  • Nephronophthisis 192 tests
  • Nephronophthisis 202 tests
  • Nephronophthisis 32 tests
  • Nephronophthisis 44 tests
  • Nephronophthisis 71 test
  • Nephronophthisis 92 tests
  • Nephronophthisis-like nephropathy 12 tests
  • Nephropathic cystinosis8 tests
  • Nephrotic syndrome, type 102 tests
  • Nephrotic syndrome, type 112 tests
  • Nephrotic syndrome, type 122 tests
  • Nephrotic syndrome, type 132 tests
  • Nephrotic syndrome, type 22 tests
  • Nephrotic syndrome, type 32 tests
  • Nephrotic syndrome, type 44 tests
  • Nephrotic syndrome, type 62 tests
  • Nephrotic syndrome, type 82 tests
  • Nephrotic syndrome, type 92 tests
  • Nestor-Guillermo progeria syndrome2 tests
  • Netherton syndrome2 tests
  • Neu-Laxova syndrome 12 tests
  • Neu-Laxova syndrome 23 tests
  • Neural tube defect6 tests
  • Neural tube defects, folate-sensitive5 tests
  • Neuroblastoma2 tests
  • Neuroblastoma, susceptibility to, 26 tests
  • Neuroblastoma, susceptibility to, 31 test
  • Neurocirculatory asthenia1 test
  • Neurocutaneous melanocytosis1 test
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset2 tests
  • Neurodegeneration with brain iron accumulation 2B4 tests
  • Neurodegeneration with brain iron accumulation 42 tests
  • Neurodegeneration with brain iron accumulation 52 tests
  • Neurodegeneration with brain iron accumulation 62 tests
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language2 tests
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities2 tests
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, familial spinal6 tests
  • Neurofibromatosis, type 16 tests
  • Neurofibromatosis, type 24 tests
  • Neurofibromatosis-Noonan syndrome6 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Neurohypophyseal diabetes insipidus1 test
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset2 tests
  • Neuronal ceroid lipofuscinosis 12 tests
  • Neuronal ceroid lipofuscinosis 102 tests
  • Neuronal ceroid lipofuscinosis 112 tests
  • Neuronal ceroid lipofuscinosis 132 tests
  • Neuronal ceroid lipofuscinosis 22 tests
  • Neuronal ceroid lipofuscinosis 32 tests
  • Neuronal ceroid lipofuscinosis 52 tests
  • Neuronal ceroid lipofuscinosis 72 tests
  • Neuronal ceroid lipofuscinosis 82 tests
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant2 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 42 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 52 tests
  • Neuronopathy, distal hereditary motor, type 2A1 test
  • Neuronopathy, distal hereditary motor, type 2B2 tests
  • Neuronopathy, distal hereditary motor, type 2C2 tests
  • Neuronopathy, distal hereditary motor, type 2D1 test
  • Neuronopathy, distal hereditary motor, type 5A1 test
  • Neuronopathy, distal hereditary motor, type 5B4 tests
  • Neuronopathy, distal hereditary motor, type 7A2 tests
  • Neuronopathy, distal hereditary motor, type 7B1 test
  • Neuropathy, hereditary motor and sensory, type 6B1 test
  • Neuropathy, hereditary sensory and autonomic, type 1C1 test
  • Neuropathy, hereditary sensory, type 1D1 test
  • Neuropathy, hereditary sensory, type 1F1 test
  • Neutral 1 amino acid transport defect2 tests
  • Neutral lipid storage myopathy2 tests
  • Neutropenia, severe congenital, 1, autosomal dominant2 tests
  • Neutropenia, severe congenital, 2, autosomal dominant2 tests
  • Neutrophil immunodeficiency syndrome2 tests
  • Newfoundland cone-rod dystrophy1 test
  • Nicolaides-Baraitser syndrome2 tests
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type B2 tests
  • Niemann-Pick disease, type C18 tests
  • Niemann-Pick disease, type C24 tests
  • Nijmegen breakage syndrome-like disorder2 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities2 tests
  • Non-Hodgkin lymphoma6 tests
  • Non-ketotic hyperglycinemia8 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to1 test
  • Nonimmune chronic idiopathic neutropenia of adults2 tests
  • Nonpapillary renal cell carcinoma11 tests
  • Nonpersistence of intestinal lactase1 test
  • Nonsyndromic congenital nail disorder 82 tests
  • Noonan syndrome 12 tests
  • Noonan syndrome 104 tests
  • Noonan syndrome 34 tests
  • Noonan syndrome 42 tests
  • Noonan syndrome 52 tests
  • Noonan syndrome 64 tests
  • Noonan syndrome 72 tests
  • Noonan syndrome 82 tests
  • Noonan syndrome 92 tests
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Norman-Roberts syndrome2 tests
  • Normophosphatemic familial tumoral calcinosis1 test
  • NPHP3-related Meckel-like syndrome2 tests
  • Nystagmus 1, congenital, X-linked4 tests
  • Nystagmus 6, congenital, X-linked2 tests
  • Obesity20 tests
  • OBESITY (BMIQ9), SUSCEPTIBILITY TO2 tests
  • Obesity due to CEP19 deficiency1 test
  • Obesity due to congenital leptin deficiency2 tests
  • Obesity due to leptin receptor gene deficiency2 tests
  • Obesity due to pro-opiomelanocortin deficiency2 tests
  • Obesity due to prohormone convertase I deficiency1 test
  • Obesity, hyperphagia, and developmental delay1 test
  • Obsessive-compulsive disorder4 tests
  • Occipital pachygyria and polymicrogyria2 tests
  • Occult macular dystrophy1 test
  • Ocular albinism with congenital sensorineural hearing loss8 tests
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II1 test
  • Ocular cystinosis4 tests
  • Oculoauricular syndrome1 test
  • Oculocerebrofacial syndrome, Kaufman type2 tests
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 41 test
  • Oculocutaneous albinism type 71 test
  • Oculodentodigital dysplasia2 tests
  • Oculodentodigital dysplasia, autosomal recessive2 tests
  • Oculofaciocardiodental syndrome1 test
  • Oculomaxillofacial dysostosis2 tests
  • Oculootoradial syndrome4 tests
  • Oculopharyngeal muscular dystrophy2 tests
  • Oculotrichoanal syndrome2 tests
  • Odonto-onycho-dermal dysplasia1 test
  • Ogden syndrome1 test
  • Oguchi disease2 tests
  • Oguchi disease-22 tests
  • Okt4 epitope deficiency4 tests
  • Okur-Chung neurodevelopmental syndrome2 tests
  • Oligodontia-cancer predisposition syndrome1 test
  • Olmsted syndrome 12 tests
  • Olmsted syndrome, X-linked2 tests
  • Oocyte maturation defect 21 test
  • Opsismodysplasia2 tests
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures2 tests
  • Optic atrophy 111 test
  • Optic atrophy 31 test
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2 tests
  • Ornithine aminotransferase deficiency2 tests
  • Ornithine carbamoyltransferase deficiency4 tests
  • Orofacial cleft 102 tests
  • Orofacial cleft 114 tests
  • Orofacial cleft 152 tests
  • Orofacial cleft 52 tests
  • Orofacial cleft 6, susceptibility to4 tests
  • Orofacial-digital syndrome IV2 tests
  • Orofaciodigital syndrome I2 tests
  • Orofaciodigital syndrome type 142 tests
  • Orofaciodigital syndrome type 62 tests
  • Orofaciodigital syndrome V2 tests
  • Orofaciodigital syndrome XV2 tests
  • Orotic aciduria2 tests
  • Orthostatic hypotension 13 tests
  • Osteoarthritis1 test
  • Osteoarthritis of distal interphalangeal joint1 test
  • Osteoarthritis susceptibility 31 test
  • Osteoarthritis, hip1 test
  • Osteochondritis dissecans1 test
  • Osteocraniostenosis2 tests
  • Osteodysplastic primordial dwarfism, type 12 tests
  • Osteofibrous dysplasia2 tests
  • Osteogenesis imperfecta type 102 tests
  • Osteogenesis imperfecta type 112 tests
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 132 tests
  • Osteogenesis imperfecta type 142 tests
  • Osteogenesis imperfecta type 152 tests
  • Osteogenesis imperfecta type 162 tests
  • Osteogenesis imperfecta type 172 tests
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 62 tests
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 82 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I4 tests
  • Osteogenesis imperfecta type III8 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form8 tests
  • Osteogenesis imperfecta, perinatal lethal8 tests
  • Osteoglophonic dysplasia4 tests
  • Osteopathia striata with cranial sclerosis2 tests
  • Osteopetrosis with renal tubular acidosis1 test
  • Osteoporosis with pseudoglioma4 tests
  • OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
  • Otodental syndrome2 tests
  • Otofaciocervical syndrome 14 tests
  • Otofaciocervical syndrome 22 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 22 tests
  • Ovarian dysgenesis 31 test
  • Ovarian hyperstimulation syndrome1 test
  • Overhydrated hereditary stomatocytosis3 tests
  • Oxoglutaricaciduria2 tests
  • p phenotype1 test
  • Pachyonychia congenita 11 test
  • Pachyonychia congenita 21 test
  • Pachyonychia congenita 31 test
  • Pachyonychia congenita 41 test
  • Paget disease of bone 2, early-onset1 test
  • Paget disease of bone 31 test
  • Paget disease of bone 61 test
  • Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome2 tests
  • Pallister-Hall syndrome4 tests
  • Palmoplantar keratoderma i, striate, focal, or diffuse1 test
  • Palmoplantar keratoderma, Bothnian type1 test
  • Palmoplantar keratoderma, epidermolytic2 tests
  • Palmoplantar keratoderma, Nagashima type1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
  • Palmoplantar keratoderma, punctate type 1A1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome2 tests
  • Pancreatic agenesis 12 tests
  • Pancreatic agenesis 22 tests
  • Pancreatic cancer, susceptibility to, 11 test
  • Pancreatic cancer, susceptibility to, 22 tests
  • Pancreatic cancer, susceptibility to, 32 tests
  • Pancreatic cancer, susceptibility to, 42 tests
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome2 tests
  • Pancreatic insufficiency-anemia-hyperostosis syndrome2 tests
  • Pancreatic triacylglycerol lipase deficiency1 test
  • Pancytopenia due to IKZF1 mutations2 tests
  • Pancytopenia-developmental delay syndrome2 tests
  • Panhypopituitarism, X-linked1 test
  • Panic disorder 11 test
  • Papillary renal cell carcinoma type 12 tests
  • Papillon-Lefèvre syndrome1 test
  • Paragangliomas 12 tests
  • Paramyotonia congenita of Von Eulenburg4 tests
  • Parastremmatic dwarfism2 tests
  • Parathyroid carcinoma2 tests
  • Parietal foramina 12 tests
  • Parietal foramina 22 tests
  • Parietal foramina with cleidocranial dysplasia2 tests
  • Parkinson disease 11, autosomal dominant, susceptibility to1 test
  • Parkinson disease 13, autosomal dominant, susceptibility to1 test
  • 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
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Paroxysmal nocturnal hemoglobinuria 21 test
  • Paroxysmal nonkinesigenic dyskinesia 13 tests
  • Partial androgen insensitivity syndrome4 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome2 tests
  • Partington syndrome4 tests
  • Patent ductus arteriosus 21 test
  • Patent ductus arteriosus 31 test
  • Patterned macular dystrophy 12 tests
  • Patterned macular dystrophy 21 test
  • Patterned macular dystrophy 31 test
  • PCWH syndrome2 tests
  • Peeling skin syndrome 11 test
  • Peeling skin syndrome 41 test
  • Peeling skin syndrome 51 test
  • Peeling skin syndrome type A1 test
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome1 test
  • Pelger-Huët anomaly2 tests
  • Pelizaeus-Merzbacher disease4 tests
  • Pelviscapular dysplasia2 tests
  • Pendred syndrome2 tests
  • PERCHING syndrome2 tests
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • Periodontitis, aggressive 11 test
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive2 tests
  • Periventricular nodular heterotopia 62 tests
  • Periventricular nodular heterotopia 72 tests
  • Perlman syndrome2 tests
  • Permanent neonatal diabetes mellitus6 tests
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome2 tests
  • Peroxisome biogenesis disorder 10A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 10B2 tests
  • Peroxisome biogenesis disorder 11A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 11B2 tests
  • Peroxisome biogenesis disorder 12A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 14B2 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 1B2 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 2B2 tests
  • Peroxisome biogenesis disorder 3A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 4B2 tests
  • Peroxisome biogenesis disorder 5A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 5B2 tests
  • Peroxisome biogenesis disorder 6A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 6B2 tests
  • Peroxisome biogenesis disorder 7A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 7B2 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 8B2 tests
  • Peroxisome biogenesis disorder 9B2 tests
  • Peroxisome biogenesis disorder type 3B2 tests
  • Perrault syndrome 12 tests
  • Perrault syndrome 22 tests
  • Perrault syndrome 32 tests
  • Perrault syndrome 42 tests
  • Perrault syndrome 54 tests
  • Perry syndrome2 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive1 test
  • Persistent Mullerian duct syndrome2 tests
  • Peters plus syndrome2 tests
  • Pettigrew syndrome3 tests
  • Peutz-Jeghers syndrome3 tests
  • Pfeiffer syndrome8 tests
  • PGM1-congenital disorder of glycosylation2 tests
  • PHARC syndrome2 tests
  • Phelan-McDermid syndrome2 tests
  • Phenylketonuria6 tests
  • Pheochromocytoma10 tests
  • PHGDH deficiency2 tests
  • Phosphate transport defect2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
  • Phosphohydroxylysinuria1 test
  • Phosphoribosylpyrophosphate synthetase superactivity2 tests
  • Phytanic acid storage disease3 tests
  • Pick disease4 tests
  • Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome2 tests
  • Piebaldism4 tests
  • Pierpont syndrome2 tests
  • Pierson syndrome2 tests
  • Pigmentary pallidal degeneration4 tests
  • Pigmentary retinal dystrophy7 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented nodular adrenocortical disease, primary, 31 test
  • Pigmented nodular adrenocortical disease, primary, 41 test
  • Pigmented paravenous retinochoroidal atrophy2 tests
  • Pili torti-deafness syndrome2 tests
  • Pilomatrixoma2 tests
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 24 tests
  • Pituitary dependent hypercortisolism2 tests
  • Pituitary hormone deficiency, combined, 12 tests
  • Pituitary hormone deficiency, combined, 22 tests
  • Pituitary hormone deficiency, combined, 61 test
  • Pityriasis rubra pilaris1 test
  • Plasma fibronectin deficiency1 test
  • Plasma triglyceride level quantitative trait locus1 test
  • Plasminogen deficiency, type I2 tests
  • Platelet-activating factor acetylhydrolase deficiency1 test
  • Platelet-type bleeding disorder 102 tests
  • Platelet-type bleeding disorder 111 test
  • Platelet-type bleeding disorder 151 test
  • Platelet-type bleeding disorder 162 tests
  • Platelet-type bleeding disorder 171 test
  • Platelet-type bleeding disorder 181 test
  • Platelet-type bleeding disorder 191 test
  • Platelet-type bleeding disorder 201 test
  • Platelet-type bleeding disorder 82 tests
  • Platelet-type bleeding disorder 92 tests
  • Platyspondylic dysplasia, Torrance type4 tests
  • Pleomorphic adenoma of salivary gland1 test
  • PLIN1-related familial partial lipodystrophy1 test
  • PMM2-congenital disorder of glycosylation2 tests
  • Poikiloderma with neutropenia1 test
  • Polyagglutinable erythrocyte syndrome1 test
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease2 tests
  • Polycystic kidney disease, adult type4 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 13 tests
  • Polycystic liver disease 12 tests
  • Polycystic liver disease 22 tests
  • Polydactyly of a triphalangeal thumb3 tests
  • Polydactyly, postaxial, type A12 tests
  • Polyendocrine-polyneuropathy syndrome1 test
  • Polyglandular autoimmune syndrome, type 12 tests
  • Polyglucosan body myopathy type 12 tests
  • Polyglucosan body myopathy type 22 tests
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
  • Polymicrogyria with optic nerve hypoplasia2 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive2 tests
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2 tests
  • Polyposis syndrome, hereditary mixed, 12 tests
  • Polyposis syndrome, hereditary mixed, 22 tests
  • Polysubstance abuse, susceptibility to2 tests
  • Polysyndactyly 42 tests
  • Pontocerebellar hypoplasia type 102 tests
  • Pontocerebellar hypoplasia type 1A2 tests
  • Pontocerebellar hypoplasia type 1B2 tests
  • Pontocerebellar hypoplasia type 2A2 tests
  • Pontocerebellar hypoplasia type 2B2 tests
  • Pontocerebellar hypoplasia type 2C2 tests
  • Pontocerebellar hypoplasia type 2D2 tests
  • Pontocerebellar hypoplasia type 2E2 tests
  • Pontocerebellar hypoplasia type 32 tests
  • Pontocerebellar hypoplasia type 42 tests
  • Pontocerebellar hypoplasia type 52 tests
  • Pontocerebellar hypoplasia type 62 tests
  • Pontocerebellar hypoplasia type 82 tests
  • Pontocerebellar hypoplasia type 92 tests
  • Pontocerebellar hypoplasia, type 1C2 tests
  • Pontocerebellar hypoplasia, type 2F2 tests
  • Popliteal pterygium syndrome4 tests
  • Porencephaly 22 tests
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome2 tests
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Porokeratosis 7, multiple types1 test
  • Porokeratosis 8, disseminated superficial actinic type1 test
  • Porokeratosis 9, multiple types1 test
  • Porokeratosis of Mibelli1 test
  • Porphobilinogen synthase deficiency6 tests
  • Portal hypertension, noncirrhotic4 tests
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome3 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 21 test
  • Posterior polymorphous corneal dystrophy 31 test
  • Postmenopausal osteoporosis9 tests
  • Potassium-aggravated myotonia2 tests
  • Potocki-Lupski syndrome2 tests
  • PPARG-related familial partial lipodystrophy4 tests
  • Prader-Willi syndrome8 tests
  • Precocious puberty, central, 22 tests
  • Predisposition to invasive fungal disease due to CARD9 deficiency2 tests
  • Preeclampsia/eclampsia 41 test
  • Preeclampsia/eclampsia 51 test
  • Pregnancy loss, recurrent, susceptibility to, 12 tests
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Pregnancy loss, recurrent, susceptibility to, 31 test
  • Preimplantation embryonic lethality 21 test
  • Prekallikrein deficiency1 test
  • Premature chromatid separation trait1 test
  • Premature ovarian failure 12 tests
  • Premature ovarian failure 101 test
  • Premature ovarian failure 111 test
  • Premature ovarian failure 121 test
  • Premature ovarian failure 2A1 test
  • Premature ovarian failure 2B1 test
  • Premature ovarian failure 32 tests
  • Premature ovarian failure 51 test
  • Premature ovarian failure 61 test
  • Premature ovarian failure 74 tests
  • Premature ovarian failure 81 test
  • Premature ovarian failure 91 test
  • Preterm premature rupture of membranes1 test
  • Pretibial dystrophic epidermolysis bullosa4 tests
  • Primary CD59 deficiency2 tests
  • Primary ciliary dyskinesia 101 test
  • Primary ciliary dyskinesia 111 test
  • Primary ciliary dyskinesia 121 test
  • Primary ciliary dyskinesia 131 test
  • Primary ciliary dyskinesia 141 test
  • Primary ciliary dyskinesia 151 test
  • Primary ciliary dyskinesia 161 test
  • Primary ciliary dyskinesia 171 test
  • Primary ciliary dyskinesia 181 test
  • Primary ciliary dyskinesia 191 test
  • Primary ciliary dyskinesia 21 test
  • Primary ciliary dyskinesia 201 test
  • Primary ciliary dyskinesia 211 test
  • Primary ciliary dyskinesia 221 test
  • Primary ciliary dyskinesia 231 test
  • Primary ciliary dyskinesia 241 test
  • Primary ciliary dyskinesia 251 test
  • Primary ciliary dyskinesia 261 test
  • Primary ciliary dyskinesia 271 test
  • Primary ciliary dyskinesia 281 test
  • Primary ciliary dyskinesia 291 test
  • Primary ciliary dyskinesia 32 tests
  • Primary ciliary dyskinesia 301 test
  • Primary ciliary dyskinesia 321 test
  • Primary ciliary dyskinesia 331 test
  • Primary ciliary dyskinesia 341 test
  • Primary ciliary dyskinesia 351 test
  • Primary ciliary dyskinesia 51 test
  • Primary ciliary dyskinesia 61 test
  • Primary ciliary dyskinesia 71 test
  • Primary ciliary dyskinesia 91 test
  • Primary coenzyme Q10 deficiency 82 tests
  • Primary erythromelalgia3 tests
  • Primary failure of tooth eruption1 test
  • Primary familial polycythemia due to EPO receptor mutation3 tests
  • Primary hyperoxaluria type 32 tests
  • Primary hyperoxaluria, type I4 tests
  • Primary hyperoxaluria, type II4 tests
  • Primary hypomagnesemia1 test
  • Primary immunodeficiency syndrome due to p14 deficiency2 tests
  • Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency2 tests
  • Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection2 tests
  • Primary intraosseous venous malformation1 test
  • Primary myelofibrosis4 tests
  • Primary open angle glaucoma1 test
  • Primrose syndrome2 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
  • Progeroid features-hepatocellular carcinoma predisposition syndrome2 tests
  • Progesterone resistance1 test
  • Progressive bulbar palsy of childhood2 tests
  • Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency2 tests
  • Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome2 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 24 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 34 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 44 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 54 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 22 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 34 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 44 tests
  • Progressive familial heart block type IB1 test
  • Progressive familial heart block, type 1A4 tests
  • Progressive familial intrahepatic cholestasis type 12 tests
  • Progressive familial intrahepatic cholestasis type 22 tests
  • Progressive familial intrahepatic cholestasis type 34 tests
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome2 tests
  • Progressive myoclonic epilepsy type 32 tests
  • Progressive myoclonic epilepsy type 62 tests
  • Progressive myoclonic epilepsy type 72 tests
  • Progressive myoclonic epilepsy type 82 tests
  • Progressive myoclonic epilepsy type 92 tests
  • Progressive myositis ossificans2 tests
  • Progressive osseous heteroplasia2 tests
  • Progressive pseudorheumatoid dysplasia4 tests
  • Progressive retinal dystrophy due to retinol transport defect2 tests
  • Progressive scapulohumeroperoneal distal myopathy2 tests
  • Progressive sclerosing poliodystrophy4 tests
  • Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2 tests
  • Progressive supranuclear ophthalmoplegia2 tests
  • Progressive supranuclear palsy-parkinsonism syndrome2 tests
  • Prolactin-producing pituitary gland adenoma2 tests
  • Prolidase deficiency2 tests
  • Proliferative vitreoretinopathy1 test
  • Proline dehydrogenase deficiency1 test
  • Properdin deficiency, X-linked1 test
  • Propionic acidemia6 tests
  • Prostate cancer, hereditary, 11 test
  • Prostate cancer, hereditary, 131 test
  • Prostate cancer, hereditary, 21 test
  • Prostate cancer/brain cancer susceptibility1 test
  • Protan defect1 test
  • Proteasome-associated autoinflammatory syndrome 11 test
  • Protein Z deficiency1 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Proteus syndrome1 test
  • Protoporphyria, erythropoietic, 14 tests
  • Proximal 16p11.2 microdeletion syndrome3 tests
  • Proximal myopathy with extrapyramidal signs2 tests
  • Proximal symphalangism 1A1 test
  • Prune belly syndrome2 tests
  • PSAT deficiency1 test
  • Pseudo von Willebrand disease1 test
  • Pseudo-Hurler polydystrophy1 test
  • Pseudo-TORCH syndrome 12 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudoexfoliation glaucoma1 test
  • Pseudofolliculitis barbae1 test
  • Pseudohyperaldosteronism type 21 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoparathyroidism2 tests
  • Pseudohypoparathyroidism type 1B4 tests
  • Pseudohypoparathyroidism type 1C2 tests
  • Pseudopseudohypoparathyroidism2 tests
  • Pseudoxanthoma elasticum, forme fruste2 tests
  • Psoriasis 1, susceptibility to1 test
  • Psoriasis 13, susceptibility to1 test
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis 21 test
  • Psoriasis 7, susceptibility to1 test
  • Psoriatic arthritis, susceptibility to2 tests
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism2 tests
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2 tests
  • Ptosis, hereditary congenital, 11 test
  • PULMONARY ALVEOLAR MICROLITHIASIS1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 27 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 31 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41 test
  • Pulmonary hypertension, neonatal, susceptibility to2 tests
  • Pulmonary hypertension, primary, 18 tests
  • Pulmonary hypertension, primary, 22 tests
  • Pulmonary hypertension, primary, 32 tests
  • Pulmonary hypertension, primary, 42 tests
  • Pulmonary venoocclusive disease 12 tests
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2 tests
  • Purine-nucleoside phosphorylase deficiency2 tests
  • PYCR1-related de Barsy syndrome2 tests
  • Pyknodysostosis2 tests
  • Pyle metaphyseal dysplasia1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
  • Pyogenic bacterial infections due to MyD88 deficiency2 tests
  • Pyridoxal phosphate-responsive seizures2 tests
  • Pyridoxine-dependent epilepsy1 test
  • Pyropoikilocytosis, hereditary1 test
  • Pyruvate carboxylase deficiency2 tests
  • Pyruvate dehydrogenase E1-alpha deficiency2 tests
  • Pyruvate dehydrogenase E1-beta deficiency2 tests
  • Pyruvate dehydrogenase E2 deficiency2 tests
  • Pyruvate dehydrogenase E3 deficiency2 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency2 tests
  • Pyruvate dehydrogenase phosphatase deficiency2 tests
  • Pyruvate kinase deficiency of red cells4 tests
  • Pyruvate kinase hyperactivity2 tests
  • Quebec platelet disorder1 test
  • Question mark ears, isolated1 test
  • RAB23-related Carpenter syndrome2 tests
  • Rabson-Mendenhall syndrome1 test
  • Radial aplasia-thrombocytopenia syndrome1 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 12 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 22 tests
  • Rafiq syndrome2 tests
  • Rapadilino syndrome2 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome4 tests
  • RCBTB1-related retinopathy2 tests
  • Recessive dystrophic epidermolysis bullosa10 tests
  • Recombination rate quantitative trait locus 11 test
  • Recurrent infections associated with rare immunoglobulin isotypes deficiency2 tests
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2 tests
  • Recurrent Neisseria infections due to factor D deficiency2 tests
  • Reis-Bucklers' corneal dystrophy1 test
  • Renal carnitine transport defect4 tests
  • Renal cell carcinoma, Xp11-associated1 test
  • Renal coloboma syndrome2 tests
  • Renal cysts and diabetes syndrome2 tests
  • Renal dysplasia, cystic, susceptibility to2 tests
  • Renal hypodysplasia/aplasia 12 tests
  • Renal hypodysplasia/aplasia 22 tests
  • Renal hypomagnesemia 21 test
  • Renal hypomagnesemia 41 test
  • Renal hypomagnesemia 5 with ocular involvement1 test
  • Renal hypomagnesemia 61 test
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular dysgenesis9 tests
  • Renal-hepatic-pancreatic dysplasia 12 tests
  • Renal-hepatic-pancreatic dysplasia 22 tests
  • Renpenning syndrome2 tests
  • Resting heart rate2 tests
  • Reticular dysgenesis1 test
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal arterial tortuosity1 test
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 41 test
  • Retinal dystrophy and obesity1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies2 tests
  • Retinal macular dystrophy type 21 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations4 tests
  • Retinitis pigmentosa 12 tests
  • Retinitis pigmentosa 102 tests
  • Retinitis pigmentosa 112 tests
  • Retinitis pigmentosa 122 tests
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 141 test
  • Retinitis pigmentosa 171 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 192 tests
  • Retinitis pigmentosa 22 tests
  • Retinitis pigmentosa 202 tests
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 261 test
  • Retinitis pigmentosa 273 tests
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 32 tests
  • Retinitis pigmentosa 301 test
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 392 tests
  • Retinitis pigmentosa 42 tests
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 481 test
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 504 tests
  • Retinitis pigmentosa 511 test
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 661 test
  • Retinitis pigmentosa 671 test
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 75 tests
  • Retinitis pigmentosa 701 test
  • Retinitis pigmentosa 711 test
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 731 test
  • Retinitis pigmentosa 741 test
  • Retinitis pigmentosa 751 test
  • Retinitis pigmentosa 762 tests
  • Retinitis pigmentosa 771 test
  • Retinitis pigmentosa 91 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
  • Retinoblastoma2 tests
  • Rett syndrome12 tests
  • Rett syndrome, congenital variant2 tests
  • Revesz syndrome2 tests
  • Reynolds syndrome2 tests
  • RFT1-congenital disorder of glycosylation2 tests
  • Rh-null, regulator type1 test
  • Rhabdoid tumor predisposition syndrome 12 tests
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhabdomyosarcoma, embryonal, 21 test
  • Rheumatoid arthritis8 tests
  • Rhizomelic chondrodysplasia punctata type 12 tests
  • Rhizomelic chondrodysplasia punctata type 22 tests
  • Rhizomelic chondrodysplasia punctata type 32 tests
  • Rhizomelic chondrodysplasia punctata type 52 tests
  • Richieri Costa-Pereira syndrome2 tests
  • RIDDLE syndrome2 tests
  • Rienhoff syndrome2 tests
  • Right atrial isomerism2 tests
  • RIN2 syndrome2 tests
  • Ring dermoid of cornea2 tests
  • Rippling muscle disease 22 tests
  • Ritscher-Schinzel syndrome 12 tests
  • Ritscher-Schinzel syndrome 22 tests
  • Robinow-Sorauf syndrome5 tests
  • Roifman syndrome2 tests
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked2 tests
  • Rothmund-Thomson syndrome type 22 tests
  • Rotor syndrome4 tests
  • Roussy-Lévy syndrome8 tests
  • Rubinstein-Taybi syndrome due to 16p13.3 microdeletion2 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations4 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency4 tests
  • Saccharopinuria1 test
  • Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome2 tests
  • Sacral defect with anterior meningocele3 tests
  • Saethre-Chotzen syndrome10 tests
  • Saldino-Mainzer syndrome2 tests
  • Salla disease3 tests
  • Sandhoff disease2 tests
  • Sarcoidosis, susceptibility to, 21 test
  • Sarcosine dehydrogenase deficiency1 test
  • Sarcotubular myopathy1 test
  • Scalp-ear-nipple syndrome1 test
  • Scapuloperoneal spinal muscular atrophy1 test
  • Schaaf-Yang syndrome4 tests
  • SchC6pf-Schulz-Passarge syndrome2 tests
  • Schimke immuno-osseous dysplasia2 tests
  • Schinzel phocomelia syndrome2 tests
  • Schinzel-Giedion syndrome2 tests
  • Schizencephaly10 tests
  • Schizophrenia13 tests
  • Schizophrenia 151 test
  • Schizophrenia 181 test
  • Schizophrenia 41 test
  • Schizophrenia 61 test
  • Schizophrenia 91 test
  • Schneckenbecken dysplasia2 tests
  • Schnyder crystalline corneal dystrophy1 test
  • Schuurs-Hoeijmakers syndrome2 tests
  • Schwannomatosis 13 tests
  • Schwannomatosis 22 tests
  • Schwartz-Jampel syndrome2 tests
  • Sclerosteosis 11 test
  • Sclerosteosis 21 test
  • SCOTT SYNDROME2 tests
  • Sea-blue histiocyte syndrome1 test
  • Seborrhea-like dermatitis with psoriasiform elements1 test
  • Seborrheic keratosis1 test
  • Seckel syndrome 14 tests
  • Seckel syndrome 102 tests
  • Seckel syndrome 22 tests
  • Seckel syndrome 44 tests
  • Seckel syndrome 52 tests
  • Seckel syndrome 62 tests
  • Seckel syndrome 72 tests
  • Seckel syndrome 82 tests
  • Seckel syndrome 92 tests
  • Seizures, benign familial infantile, 21 test
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial infantile, 51 test
  • Seizures, benign familial neonatal, 14 tests
  • Seizures, benign familial neonatal, 22 tests
  • Seizures-scoliosis-macrocephaly syndrome4 tests
  • Selective pituitary resistance to thyroid hormone1 test
  • Sengers syndrome2 tests
  • Senior-Loken syndrome 14 tests
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 52 tests
  • Senior-Loken syndrome 64 tests
  • Senior-Loken syndrome 72 tests
  • Senior-Loken syndrome 82 tests
  • Senior-Loken syndrome 92 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4 tests
  • Septo-optic dysplasia sequence8 tests
  • SERKAL syndrome6 tests
  • Sessile serrated polyposis cancer syndrome1 test
  • Severe combined immunodeficiency due to CARD11 deficiency2 tests
  • Severe combined immunodeficiency due to CORO1A deficiency2 tests
  • Severe combined immunodeficiency due to CTPS1 deficiency2 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency2 tests
  • Severe combined immunodeficiency due to DNA-PKcs deficiency2 tests
  • Severe combined immunodeficiency due to IKK2 deficiency2 tests
  • Severe combined immunodeficiency due to LCK deficiency2 tests
  • 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-positive4 tests
  • Severe congenital hypochromic anemia with ringed sideroblasts1 test
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome1 test
  • Severe early-childhood-onset retinal dystrophy7 tests
  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency1 test
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2 tests
  • Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome2 tests
  • Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2 tests
  • Severe intellectual disability-progressive spastic diplegia syndrome2 tests
  • Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome2 tests
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome2 tests
  • Severe myoclonic epilepsy in infancy6 tests
  • Severe neonatal-onset encephalopathy with microcephaly4 tests
  • Severe neurodegenerative syndrome with lipodystrophy2 tests
  • Severe X-linked mitochondrial encephalomyopathy2 tests
  • Severe X-linked myotubular myopathy4 tests
  • Shashi-Pena syndrome3 tests
  • Short QT syndrome type 12 tests
  • Short QT syndrome type 21 test
  • Short QT syndrome type 32 tests
  • Short stature due to growth hormone qualitative anomaly2 tests
  • Short stature due to growth hormone secretagogue receptor deficiency1 test
  • Short stature due to partial GHR deficiency1 test
  • Short stature due to primary acid-labile subunit deficiency1 test
  • Short stature with microcephaly and distinctive facies2 tests
  • Short stature with nonspecific skeletal abnormalities2 tests
  • Short stature, microcephaly, and endocrine dysfunction2 tests
  • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome2 tests
  • Short stature-brachydactyly-obesity-global developmental delay syndrome2 tests
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
  • Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome2 tests
  • SHORT syndrome2 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 14 with polydactyly2 tests
  • Short-rib thoracic dysplasia 15 with polydactyly2 tests
  • Short-rib thoracic dysplasia 16 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 6 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
  • SHOX-related short stature2 tests
  • Shprintzen-Goldberg syndrome2 tests
  • Shwachman-Diamond syndrome 12 tests
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis type 25 tests
  • Sialuria2 tests
  • Sick sinus syndrome 12 tests
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sick sinus syndrome 3, susceptibility to1 test
  • Sideroblastic anemia 22 tests
  • Sideroblastic anemia 32 tests
  • Sifrim-Hitz-Weiss syndrome2 tests
  • Silver-Russell syndrome 16 tests
  • Silver-Russell syndrome 34 tests
  • Simpson-Golabi-Behmel syndrome type 14 tests
  • Simpson-Golabi-Behmel syndrome type 22 tests
  • SIN3A-related intellectual disability syndrome due to a point mutation2 tests
  • Singleton-Merten syndrome 12 tests
  • Singleton-Merten syndrome 22 tests
  • Sinoatrial node dysfunction and deafness1 test
  • Sjögren-Larsson syndrome2 tests
  • Skeletal defects, genital hypoplasia, and intellectual disability3 tests
  • Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome1 test
  • Skin creases, congenital symmetric circumferential, 23 tests
  • SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES4 tests
  • SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN6 tests
  • SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR2 tests
  • SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN1 test
  • SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR2 tests
  • Skin/hair/eye pigmentation, variation in, 101 test
  • Skin/hair/eye pigmentation, variation in, 111 test
  • Skin/hair/eye pigmentation, variation in, 23 tests
  • Skin/hair/eye pigmentation, variation in, 42 tests
  • Skin/hair/eye pigmentation, variation in, 53 tests
  • Skin/hair/eye pigmentation, variation in, 81 test
  • SLC35A1-congenital disorder of glycosylation2 tests
  • SLC35A2-congenital disorder of glycosylation2 tests
  • SLC39A8-CDG2 tests
  • Slow acetylator due to N-acetyltransferase enzyme variant1 test
  • Small cell lung carcinoma1 test
  • Smith-Lemli-Opitz syndrome4 tests
  • Smith-Magenis syndrome2 tests
  • Smith-McCort dysplasia 12 tests
  • Smith-McCort dysplasia 22 tests
  • Smoking as a quantitative trait locus 33 tests
  • Sneddon syndrome2 tests
  • Snowflake vitreoretinal degeneration1 test
  • Solitary median maxillary central incisor syndrome4 tests
  • Soluble interleukin-6 receptor, serum level of, quantitative trait locus1 test
  • Somatotroph adenoma2 tests
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome4 tests
  • Southeast Asian ovalocytosis1 test
  • Spastic ataxia 11 test
  • Spastic ataxia 21 test
  • Spastic ataxia 31 test
  • Spastic ataxia 41 test
  • Spastic ataxia 51 test
  • Spastic paraplegia 52, autosomal recessive1 test
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
  • Spastic paraplegia, optic atropy, and neuropathy1 test
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome2 tests
  • Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome2 tests
  • Spasticity-ataxia-gait anomalies syndrome1 test
  • Specific granule deficiency 11 test
  • Specific language impairment 51 test
  • Spermatogenic failure 101 test
  • Spermatogenic failure 111 test
  • Spermatogenic failure 121 test
  • Spermatogenic failure 131 test
  • Spermatogenic failure 141 test
  • Spermatogenic failure 151 test
  • Spermatogenic failure 162 tests
  • Spermatogenic failure 171 test
  • Spermatogenic failure 31 test
  • Spermatogenic failure 42 tests
  • Spermatogenic failure 71 test
  • Spermatogenic failure 82 tests
  • Spermatogenic failure 91 test
  • Spermatogenic failure, X-linked, 21 test
  • Spermatogenic failure, Y-linked, 21 test
  • Sphingolipid activator protein 1 deficiency2 tests
  • Spinal muscular atrophy with congenital bone fractures 12 tests
  • Spinal muscular atrophy with congenital bone fractures 22 tests
  • Spinal muscular atrophy, type II4 tests
  • Spinal muscular atrophy, type IV4 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar ataxia type 141 test
  • Spinocerebellar ataxia type 15/161 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 22 tests
  • Spinocerebellar ataxia type 201 test
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 232 tests
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 281 test
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 341 test
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 361 test
  • Spinocerebellar ataxia type 381 test
  • Spinocerebellar ataxia type 401 test
  • Spinocerebellar ataxia type 411 test
  • Spinocerebellar ataxia type 421 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 62 tests
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia, autosomal recessive 221 test
  • Spinocerebellar ataxia, autosomal recessive 232 tests
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
  • Split hand-foot malformation 1 with sensorineural hearing loss2 tests
  • Split hand-foot malformation 32 tests
  • Split hand-foot malformation 42 tests
  • Split hand-foot malformation 62 tests
  • Split-foot malformation-mesoaxial polydactyly syndrome2 tests
  • Spondylo-megaepiphyseal-metaphyseal dysplasia2 tests
  • Spondylo-ocular syndrome2 tests
  • Spondylocarpotarsal synostosis syndrome4 tests
  • Spondylocostal dysostosis 1, autosomal recessive2 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 recessive2 tests
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2 tests
  • Spondyloepimetaphyseal dysplasia with multiple dislocations2 tests
  • Spondyloepimetaphyseal dysplasia, aggrecan type2 tests
  • Spondyloepimetaphyseal dysplasia, Genevieve type2 tests
  • Spondyloepimetaphyseal dysplasia, Maroteaux type2 tests
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type2 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type4 tests
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type1 test
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita6 tests
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations2 tests
  • Spondyloepiphyseal dysplasia with metatarsal shortening4 tests
  • Spondyloepiphyseal dysplasia, Kimberley type2 tests
  • Spondyloepiphyseal dysplasia, Stanescu type4 tests
  • Spondylometaphyseal dysplasia4 tests
  • Spondylometaphyseal dysplasia, Sedaghatian type2 tests
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloperipheral dysplasia4 tests
  • Spongiform encephalopathy with neuropsychiatric features2 tests
  • Spongy degeneration of central nervous system4 tests
  • Squamous cell carcinoma of the head and neck3 tests
  • SRD5A3-congenital disorder of glycosylation2 tests
  • SSR4-congenital disorder of glycosylation2 tests
  • Stapes ankylosis with broad thumbs and toes1 test
  • Stargardt disease 31 test
  • Stargardt disease 41 test
  • STAT3-related early-onset multisystem autoimmune disease1 test
  • Steatocystoma multiplex1 test
  • Steel syndrome2 tests
  • Steinert myotonic dystrophy syndrome1 test
  • Sterile multifocal osteomyelitis with periostitis and pustulosis2 tests
  • Sterol carrier protein 2 deficiency1 test
  • Stickler syndrome type 14 tests
  • Stickler syndrome type 24 tests
  • Stickler syndrome, type 42 tests
  • Stickler syndrome, type 52 tests
  • Stickler syndrome, type I, nonsyndromic ocular4 tests
  • Stiff skin syndrome4 tests
  • STING-associated vasculopathy with onset in infancy1 test
  • Stormorken syndrome2 tests
  • Striatal degeneration, autosomal dominant 22 tests
  • Striatonigral degeneration, childhood-onset3 tests
  • Stroke, susceptibility to, 11 test
  • Stromme syndrome2 tests
  • STT3A-congenital disorder of glycosylation2 tests
  • STT3B-congenital disorder of glycosylation2 tests
  • Sturge-Weber syndrome1 test
  • Stuttering, familial persistent, 11 test
  • Stuve-Wiedemann syndrome2 tests
  • Succinate-semialdehyde dehydrogenase deficiency2 tests
  • Succinyl-CoA acetoacetate transferase deficiency2 tests
  • Sucrase-isomaltase deficiency2 tests
  • SUDDEN INFANT DEATH SYNDROME4 tests
  • Sudden infant death-dysgenesis of the testes syndrome2 tests
  • Sulfite oxidase deficiency2 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A2 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C2 tests
  • Supravalvar aortic stenosis1 test
  • Surfactant metabolism dysfunction, pulmonary, 12 tests
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 42 tests
  • Surfactant metabolism dysfunction, pulmonary, 52 tests
  • Susceptibility to angioedema induced by ACE inhibitors1 test
  • Susceptibility to bulimia nervosa1 test
  • Susceptibility to HIV infection17 tests
  • Susceptibility to mononeuropathy of the median nerve, mild2 tests
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation2 tests
  • Susceptibility to severe cutaneous adverse reaction7 tests
  • Symmetrical dyschromatosis of extremities1 test
  • Symphalangism, proximal, 1B1 test
  • Symphalangism-brachydactyly syndrome1 test
  • Syndactyly type 12 tests
  • Syndactyly type 41 test
  • Syndactyly type 52 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
  • Syndromic microphthalmia type 52 tests
  • Syndromic multisystem autoimmune disease due to ITCH deficiency1 test
  • Syndromic X-linked intellectual disability 142 tests
  • Syndromic X-linked intellectual disability 342 tests
  • Syndromic X-linked intellectual disability 942 tests
  • Syndromic X-linked intellectual disability Claes-Jensen type2 tests
  • Syndromic X-linked intellectual disability Hedera type2 tests
  • Syndromic X-linked intellectual disability Lubs type5 tests
  • Syndromic X-linked intellectual disability Najm type4 tests
  • Syndromic X-linked intellectual disability Nascimento type2 tests
  • Syndromic X-linked intellectual disability Raymond type2 tests
  • Syndromic X-linked intellectual disability Siderius type2 tests
  • Syndromic X-linked intellectual disability Snyder type2 tests
  • Synovial sarcoma2 tests
  • Synpolydactyly type 12 tests
  • Synpolydactyly type 21 test
  • Systemic lupus erythematosus7 tests
  • Systemic lupus erythematosus, susceptibility to, 12 tests
  • Systemic lupus erythematosus, susceptibility to, 101 test
  • Systemic lupus erythematosus, susceptibility to, 21 test
  • Systemic lupus erythematosus, susceptibility to, 61 test
  • Systemic lupus erythematosus, susceptibility to, 91 test
  • Systemic-onset juvenile idiopathic arthritis2 tests
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency2 tests
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy2 tests
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome2 tests
  • Tangier disease1 test
  • TARP syndrome2 tests
  • Tarsal-carpal coalition syndrome1 test
  • Tatton-Brown-Rahman overgrowth syndrome2 tests
  • Tay-Sachs disease10 tests
  • Tay-Sachs disease, variant AB2 tests
  • TCF12-related craniosynostosis2 tests
  • TCR-alpha-beta-positive T-cell deficiency2 tests
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • TELO2-related intellectual disability-neurodevelopmental disorder3 tests
  • Temple-Baraitser syndrome2 tests
  • Temtamy preaxial brachydactyly syndrome1 test
  • Temtamy syndrome2 tests
  • Tenorio syndrome3 tests
  • Terminal osseous dysplasia-pigmentary defects syndrome2 tests
  • Testicular anomalies with or without congenital heart disease2 tests
  • Testosterone 17-beta-dehydrogenase deficiency2 tests
  • Tetraamelia syndrome 12 tests
  • Tetralogy of Fallot20 tests
  • TFRC-related combined immunodeficiency2 tests
  • Thanatophoric dysplasia type 12 tests
  • Thanatophoric dysplasia, type 22 tests
  • Thiel-Behnke corneal dystrophy1 test
  • Thiopurine S-methyltransferase deficiency2 tests
  • Thiopurines, poor metabolism of, 21 test
  • Thiourea tasting1 test
  • THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome2 tests
  • Thrombocythemia 13 tests
  • Thrombocythemia 21 test
  • Thrombocythemia 31 test
  • Thrombocytopenia 12 tests
  • Thrombocytopenia 21 test
  • Thrombocytopenia 41 test
  • Thrombocytopenia 51 test
  • Thrombocytopenia 61 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
  • Thrombomodulin-related bleeding disorder1 test
  • Thrombophilia due to activated protein C resistance4 tests
  • Thrombophilia due to protein C deficiency, autosomal dominant2 tests
  • Thrombophilia due to protein C deficiency, autosomal recessive2 tests
  • Thrombophilia due to protein S deficiency, autosomal dominant2 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive2 tests
  • Thrombophilia due to thrombin defect5 tests
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator2 tests
  • Thrombophilia, X-linked, due to factor 9 defect4 tests
  • Thromboxane synthetase deficiency1 test
  • Thyroglobulin synthesis defect1 test
  • Thyroid cancer, nonmedullary, 12 tests
  • Thyroid cancer, nonmedullary, 24 tests
  • Thyroid cancer, nonmedullary, 42 tests
  • Thyroid cancer, nonmedullary, 51 test
  • Thyroid dyshormonogenesis 61 test
  • Thyroid hormone metabolism, abnormal 11 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 12 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 21 test
  • Tibia, hypoplasia or aplasia of, with polydactyly2 tests
  • Tibial muscular dystrophy2 tests
  • Tietz syndrome2 tests
  • Timothy syndrome1 test
  • TMEM165-congenital disorder of glycosylation2 tests
  • TMEM199-CDG2 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Tobacco addiction, susceptibility to7 tests
  • Tooth agenesis, selective, 11 test
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 41 test
  • Tooth agenesis, selective, 71 test
  • Tooth agenesis, selective, 81 test
  • Tooth agenesis, selective, 91 test
  • Tooth agenesis, selective, X-linked, 12 tests
  • Torsion dystonia 21 test
  • Torsion dystonia 41 test
  • Torsion dystonia 62 tests
  • Townes-Brocks syndrome 18 tests
  • Transcobalamin II deficiency2 tests
  • Transferrin serum level quantitative trait locus 22 tests
  • Transient infantile hypertriglyceridemia and hepatosteatosis1 test
  • Transketolase deficiency3 tests
  • Transposition of the great arteries, dextro-looped2 tests
  • Treacher Collins syndrome 14 tests
  • Treacher Collins syndrome 22 tests
  • Treacher Collins syndrome 32 tests
  • Tremor, hereditary essential, 11 test
  • Tremor, hereditary essential, 41 test
  • Tremor, hereditary essential, 52 tests
  • Tricho-dento-osseous syndrome2 tests
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichomegaly1 test
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome2 tests
  • Trichorhinophalangeal dysplasia type I4 tests
  • Trichorhinophalangeal syndrome, type III4 tests
  • Trichothiodystrophy 1, photosensitive1 test
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy 4, nonphotosensitive1 test
  • Trichothiodystrophy 5, nonphotosensitive1 test
  • Trichothiodystrophy 6, nonphotosensitive1 test
  • Trichotillomania1 test
  • Triglyceride storage disease with ichthyosis2 tests
  • Trigonocephaly 14 tests
  • Trigonocephaly 22 tests
  • Triosephosphate isomerase deficiency2 tests
  • Tropical pancreatitis4 tests
  • Troyer syndrome1 test
  • Trypsinogen deficiency2 tests
  • Tuberous sclerosis 14 tests
  • Tuberous sclerosis 25 tests
  • Tubulointerstitial kidney disease, autosomal dominant, 22 tests
  • Tumor predisposition syndrome 31 test
  • Tumoral calcinosis, hyperphosphatemic, familial, 15 tests
  • TWIST1-related craniosynostosis4 tests
  • Type 1 diabetes mellitus 101 test
  • Type 1 diabetes mellitus 121 test
  • Type 1 diabetes mellitus 21 test
  • Type 1 diabetes mellitus 202 tests
  • Type 1 diabetes mellitus 51 test
  • Type 2 diabetes mellitus37 tests
  • Type A2 brachydactyly3 tests
  • Type I complement component 8 deficiency2 tests
  • Type II complement component 8 deficiency2 tests
  • Tyrosinase-negative oculocutaneous albinism2 tests
  • Tyrosinase-positive oculocutaneous albinism3 tests
  • Tyrosinemia type I2 tests
  • Tyrosinemia type II2 tests
  • Tyrosinemia type III2 tests
  • UDPglucose-4-epimerase deficiency2 tests
  • Ullrich congenital muscular dystrophy 1A4 tests
  • Ullrich congenital muscular dystrophy 23 tests
  • Ulnar-mammary syndrome2 tests
  • Unverricht-Lundborg syndrome2 tests
  • Upshaw-Schulman syndrome1 test
  • Uric acid concentration, serum, quantitative trait locus 11 test
  • Uric acid concentration, serum, quantitative trait locus 42 tests
  • Urocanate hydratase deficiency2 tests
  • Urofacial syndrome 22 tests
  • Urofacial syndrome type 12 tests
  • Usher syndrome type 11 test
  • Usher syndrome type 1C1 test
  • Usher syndrome type 1D4 tests
  • Usher syndrome type 1F2 tests
  • Usher syndrome type 1G1 test
  • Usher syndrome type 1J1 test
  • Usher syndrome type 2A3 tests
  • Usher syndrome type 2C3 tests
  • Usher syndrome type 2D1 test
  • Usher syndrome type 31 test
  • Usher syndrome type 3B1 test
  • Uterine leiomyoma1 test
  • UV-sensitive syndrome 11 test
  • UV-sensitive syndrome 21 test
  • UV-sensitive syndrome 31 test
  • Uveal coloboma-cleft lip and palate-intellectual disability3 tests
  • VACTERL association, X-linked, with or without hydrocephalus4 tests
  • VACTERL with hydrocephalus6 tests
  • Van Buchem disease type 22 tests
  • Van den Ende-Gupta syndrome2 tests
  • Van der Woude syndrome 14 tests
  • Van der Woude syndrome 22 tests
  • Van Maldergem syndrome 12 tests
  • Van Maldergem syndrome 21 test
  • Vanishing white matter disease12 tests
  • Variegate porphyria8 tests
  • Vas deferens, congenital bilateral aplasia of, X-linked1 test
  • Vasculitis due to ADA2 deficiency1 test
  • Velocardiofacial syndrome4 tests
  • Ventricular fibrillation, paroxysmal familial, 21 test
  • Ventricular septal defect 14 tests
  • Ventricular septal defect 22 tests
  • Ventricular septal defect 34 tests
  • Ventriculomegaly-cystic kidney disease2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency4 tests
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Vesicoureteral reflux 82 tests
  • Vici syndrome2 tests
  • Visceral myopathy 11 test
  • Vitamin b12 plasma level quantitative trait locus 13 tests
  • Vitamin D hydroxylation-deficient rickets, type 1B1 test
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitamin D-dependent rickets, type 12 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
  • Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
  • Vitelliform macular dystrophy 22 tests
  • Vitelliform macular dystrophy 41 test
  • Vitelliform macular dystrophy 51 test
  • Vitiligo-associated multiple autoimmune disease susceptibility 11 test
  • Von Hippel-Lindau syndrome3 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 2A4 tests
  • Waardenburg syndrome type 2D4 tests
  • Waardenburg syndrome type 2E2 tests
  • Waardenburg syndrome type 34 tests
  • Waardenburg syndrome type 4A4 tests
  • Waardenburg syndrome type 4B4 tests
  • Waardenburg syndrome type 4C2 tests
  • Wagner syndrome2 tests
  • Warburg micro syndrome 12 tests
  • Warburg micro syndrome 22 tests
  • Warburg micro syndrome 32 tests
  • Warburg micro syndrome 42 tests
  • Warfarin response11 tests
  • Warsaw breakage syndrome2 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis6 tests
  • Weaver syndrome2 tests
  • Webb-Dattani syndrome2 tests
  • Weill-Marchesani 4 syndrome, recessive2 tests
  • Weill-Marchesani syndrome 12 tests
  • Weill-Marchesani syndrome 2, dominant4 tests
  • Weill-Marchesani syndrome 32 tests
  • Welander distal myopathy2 tests
  • Werdnig-Hoffmann disease4 tests
  • Werner syndrome2 tests
  • West Nile virus, susceptibility to2 tests
  • White sponge nevus 11 test
  • White sponge nevus 21 test
  • Wieacker-Wolff syndrome2 tests
  • Wiedemann-Steiner syndrome4 tests
  • Williams syndrome4 tests
  • Wilms tumor 13 tests
  • Wilms tumor 22 tests
  • Wilms tumor 51 test
  • Wilms tumor 62 tests
  • Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome2 tests
  • Wilson disease2 tests
  • Wilson-Turner syndrome1 test
  • Wiskott-Aldrich syndrome2 tests
  • Wiskott-Aldrich syndrome 22 tests
  • Wolcott-Rallison dysplasia2 tests
  • Wolff-Parkinson-White pattern1 test
  • Wolfram syndrome 12 tests
  • Wolfram syndrome 21 test
  • Wolfram-like syndrome2 tests
  • Woodhouse-Sakati syndrome2 tests
  • Woolly hair-skin fragility syndrome4 tests
  • Wooly hair-palmoplantar keratoderma syndrome1 test
  • Worth disease6 tests
  • Wrinkly skin syndrome1 test
  • X inactivation, familial skewed, 11 test
  • X-linked acrogigantism due to Xq26 microduplication2 tests
  • X-linked agammaglobulinemia2 tests
  • X-linked agammaglobulinemia with growth hormone deficiency6 tests
  • X-linked Alport syndrome4 tests
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
  • X-linked complicated corpus callosum dysgenesis2 tests
  • X-linked cone-rod dystrophy 12 tests
  • X-linked cone-rod dystrophy 31 test
  • X-linked distal spinal muscular atrophy type 34 tests
  • X-linked dominant chondrodysplasia, Chassaing-Lacombe type2 tests
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
  • X-linked dystonia-parkinsonism1 test
  • X-linked Emery-Dreifuss muscular dystrophy1 test
  • X-linked erythropoietic protoporphyria2 tests
  • X-linked hydrocephalus syndrome6 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency4 tests
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia2 tests
  • X-linked intellectual disability Cabezas type2 tests
  • X-linked intellectual disability with marfanoid habitus3 tests
  • X-linked intellectual disability, Cantagrel type2 tests
  • X-linked intellectual disability, Stocco dos Santos type2 tests
  • X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome2 tests
  • X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome4 tests
  • X-linked intellectual disability-retinitis pigmentosa syndrome2 tests
  • X-linked intellectual disability-short stature-overweight syndrome2 tests
  • X-linked lissencephaly with abnormal genitalia8 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency2 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency2 tests
  • X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency2 tests
  • X-linked mixed hearing loss with perilymphatic gusher1 test
  • X-linked myopathy with excessive autophagy2 tests
  • X-linked myopathy with postural muscle atrophy3 tests
  • X-linked Opitz G/BBB syndrome4 tests
  • X-linked parkinsonism-spasticity syndrome1 test
  • X-linked progressive cerebellar ataxia1 test
  • X-linked recessive nephrolithiasis with renal failure1 test
  • X-linked reticulate pigmentary disorder1 test
  • X-linked scapuloperoneal muscular dystrophy1 test
  • X-linked severe combined immunodeficiency2 tests
  • X-linked severe congenital neutropenia2 tests
  • X-linked sideroblastic anemia 12 tests
  • X-linked sideroblastic anemia with ataxia2 tests
  • X-linked spondyloepimetaphyseal dysplasia2 tests
  • Xanthinuria type II2 tests
  • Xeroderma pigmentosum group A2 tests
  • Xeroderma pigmentosum group B2 tests
  • Xeroderma pigmentosum variant type2 tests
  • Xeroderma pigmentosum, group C2 tests
  • Xeroderma pigmentosum, group D2 tests
  • Xeroderma pigmentosum, group E2 tests
  • Xeroderma pigmentosum, group F4 tests
  • Xeroderma pigmentosum, group G4 tests
  • XFE progeroid syndrome2 tests
  • Xq27.3q28 duplication syndrome2 tests
  • Yao syndrome2 tests
  • Yunis-Varon syndrome2 tests
  • Zimmermann-Laband syndrome 12 tests
  • Zimmermann-Laband syndrome 22 tests
  • Zinc deficiency, transient neonatal1 test
  • ZTTK syndrome3 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Balanced Chromosome Rearrangement Studies
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Carrier testing
  • Genetic counseling
  • Identity Testing
  • Marker Chromosome Identification
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Preimplantation Genetic Diagnosis (PGD)
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Whole Genome Sequencing
  • Cytogenetic testing
  • Rare disease clinical evaluation
  • Rare disease custom testing

List of certifications/licenses

Certifications

  • CEQAS, Number: 0595, Expiration date: 2021-05-31
  • EMQN, Number: 0595, Expiration date: 2008-09-28
  • Turkish Ministry of Heath Cytogenetics License, Number: 11379, Expiration date: 2010-03-18
  • Turkish Ministry of Heath Molecular Genetics License, Number: 11379, Expiration date: 2010-03-18

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.