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GTR Home > Laboratories > Invitae

Invitae

GTR Lab ID: 500031, Last updated:2023-10-10

Personnel

  • Director: Swaroop Aradhya, PhD, FACMG, Lab Director
  • Director: Robert Daber, PhD, Lab Director
  • Director: Kingshuk Das, MD, Lab Director
  • Director: Seyed Ali Hosseini, PhD, MD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
    Email: seyedali.hosseini@invitae.com

Conditions and tests

  • 11p partial monosomy syndrome16 tests
  • 2-aminoadipic 2-oxoadipic aciduria5 tests
  • 2-hydroxyglutaric aciduria4 tests
  • 22q partial monosomy1 test
  • 3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency6 tests
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency9 tests
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency9 tests
  • 3-methylglutaconic aciduria type 18 tests
  • 3-Methylglutaconic aciduria type 211 tests
  • 3-Methylglutaconic aciduria type 39 tests
  • 3-methylglutaconic aciduria type 57 tests
  • 3-methylglutaconic aciduria type 88 tests
  • 3-methylglutaconic aciduria type 99 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome9 tests
  • 3-methylglutaconic aciduria, type VIIB10 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3 tests
  • 3M syndrome 11 test
  • 3M syndrome 21 test
  • 3M syndrome 31 test
  • 46,XX sex reversal 12 tests
  • 46,XX sex reversal 41 test
  • 46,xx sex reversal 51 test
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1 test
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
  • 46,XY sex reversal 13 tests
  • 46,XY sex reversal 111 test
  • 46,XY sex reversal 27 tests
  • 46,XY sex reversal 31 test
  • 46,XY sex reversal 51 test
  • 46,XY sex reversal 61 test
  • 46,XY sex reversal 71 test
  • 46,XY sex reversal 92 tests
  • 4p partial monosomy syndrome3 tests
  • 5-Oxoprolinase deficiency3 tests
  • 5p partial monosomy syndrome2 tests
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency9 tests
  • Aarskog syndrome1 test
  • ABCD syndrome3 tests
  • Abdominal obesity-metabolic syndrome 31 test
  • Abetalipoproteinaemia4 tests
  • Ablepharon macrostomia syndrome1 test
  • Abortive cerebellar ataxia6 tests
  • ABri amyloidosis1 test
  • Acetyl-CoA: carboxylase deficiency1 test
  • Acheiropodia1 test
  • Achondrogenesis type II5 tests
  • Achondrogenesis, type IA4 tests
  • Achondrogenesis, type IB7 tests
  • Achondroplasia3 tests
  • Achromatopsia 22 tests
  • Achromatopsia 36 tests
  • Achromatopsia 42 tests
  • Achromatopsia 72 tests
  • Acne inversa, familial, 12 tests
  • Acne inversa, familial, 22 tests
  • Acne inversa, familial, 31 test
  • Acquired hemoglobin H disease6 tests
  • Acquired polycythemia vera2 tests
  • Acrocallosal syndrome8 tests
  • Acrocapitofemoral dysplasia2 tests
  • Acrocephalosyndactyly type I4 tests
  • Acrodysostosis 1 with or without hormone resistance7 tests
  • Acrodysostosis 2 with or without hormone resistance4 tests
  • Acroerythrokeratoderma1 test
  • Acrofacial dysostosis Cincinnati type2 tests
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromelic frontonasal dysostosis3 tests
  • Acromesomelic dysplasia 1, Maroteaux type3 tests
  • Acromesomelic dysplasia 2B3 tests
  • Acromesomelic dysplasia 2C, Hunter-Thompson type3 tests
  • Acromesomelic dysplasia 32 tests
  • Acromicric dysplasia8 tests
  • Acroosteolysis-keloid-like lesions-premature aging syndrome2 tests
  • ACTH-independent macronodular adrenal hyperplasia 19 tests
  • Actin accumulation myopathy3 tests
  • Action myoclonus-renal failure syndrome3 tests
  • Aculeiform cataract1 test
  • Acute febrile neutrophilic dermatosis9 tests
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3 tests
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
  • Acute intermittent porphyria10 tests
  • Acute lymphoid leukemia10 tests
  • Acute myeloid leukemia29 tests
  • Acyl-CoA dehydrogenase 9 deficiency7 tests
  • Acyl-CoA oxidase deficiency7 tests
  • Adams-Oliver syndrome1 test
  • Adams-Oliver syndrome 13 tests
  • Adams-Oliver syndrome 24 tests
  • Adams-Oliver syndrome 33 tests
  • Adams-Oliver syndrome 45 tests
  • Adams-Oliver syndrome 57 tests
  • Adams-Oliver syndrome 63 tests
  • ADan amyloidosis1 test
  • Adenine phosphoribosyltransferase deficiency4 tests
  • Adenosine kinase deficiency7 tests
  • Adenylosuccinate lyase deficiency8 tests
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder5 tests
  • Adrenocortical carcinoma, hereditary12 tests
  • Adrenoleukodystrophy11 tests
  • Adult hypophosphatasia7 tests
  • Adult polyglucosan body disease7 tests
  • ADULT syndrome7 tests
  • Adult-onset foveomacular vitelliform dystrophy1 test
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant3 tests
  • Agammaglobulinemia 2, autosomal recessive3 tests
  • Agammaglobulinemia 3, autosomal recessive3 tests
  • Agammaglobulinemia 4, autosomal recessive3 tests
  • Agammaglobulinemia 5, autosomal dominant3 tests
  • Agammaglobulinemia 6, autosomal recessive3 tests
  • Agammaglobulinemia 7, autosomal recessive11 tests
  • Agammaglobulinemia 8, autosomal dominant3 tests
  • Age related macular degeneration 11 test
  • Age related macular degeneration 111 test
  • Age related macular degeneration 136 tests
  • Age related macular degeneration 144 tests
  • Age related macular degeneration 153 tests
  • Age related macular degeneration 23 tests
  • Age related macular degeneration 46 tests
  • Age related macular degeneration 54 tests
  • Age related macular degeneration 62 tests
  • Age related macular degeneration 72 tests
  • Age related macular degeneration 94 tests
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome3 tests
  • Agenesis of the corpus callosum with peripheral neuropathy4 tests
  • AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome4 tests
  • AICA-ribosiduria1 test
  • Aicardi-Goutieres syndrome 112 tests
  • Aicardi-Goutieres syndrome 211 tests
  • Aicardi-Goutieres syndrome 39 tests
  • Aicardi-Goutieres syndrome 49 tests
  • Aicardi-Goutieres syndrome 59 tests
  • Aicardi-Goutieres syndrome 68 tests
  • Aicardi-Goutieres syndrome 78 tests
  • Al-Gazali syndrome5 tests
  • Alacrima, achalasia, and intellectual disability syndrome2 tests
  • Alagille syndrome due to a JAG1 point mutation10 tests
  • Alagille syndrome due to a NOTCH2 point mutation12 tests
  • Alazami-Yuan syndrome1 test
  • Alcohol dependence3 tests
  • ALDH18A1-related de Barsy syndrome9 tests
  • Aldosterone-producing adenoma with seizures and neurological abnormalities6 tests
  • Alexander disease4 tests
  • ALG1-congenital disorder of glycosylation7 tests
  • ALG11-congenital disorder of glycosylation2 tests
  • ALG12-congenital disorder of glycosylation5 tests
  • ALG2-congenital disorder of glycosylation3 tests
  • ALG3-congenital disorder of glycosylation4 tests
  • ALG6-congenital disorder of glycosylation 1C9 tests
  • ALG8 congenital disorder of glycosylation7 tests
  • ALG9 congenital disorder of glycosylation6 tests
  • Alkaline ceramidase 3 deficiency1 test
  • Alkaptonuria2 tests
  • Allan-Herndon-Dudley syndrome3 tests
  • Alopecia universalis congenita1 test
  • Alopecia-intellectual disability syndrome 41 test
  • alpha Thalassemia5 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome8 tests
  • Alpha-1-antitrypsin deficiency3 tests
  • Alpha-methylacyl-CoA racemase deficiency9 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 16 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 26 tests
  • Alpha-thalassemia/intellectual disability syndrome2 tests
  • Alstrom syndrome10 tests
  • Alternating hemiplegia of childhood 13 tests
  • Alternating hemiplegia of childhood 27 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment1 test
  • Alveolar rhabdomyosarcoma2 tests
  • Alzheimer disease5 tests
  • Alzheimer disease 32 tests
  • Alzheimer disease 42 tests
  • Alzheimer disease type 12 tests
  • Amelocerebrohypohidrotic syndrome1 test
  • Amelogenesis imperfecta type 1A2 tests
  • Amelogenesis imperfecta type 1G3 tests
  • Aminoacylase 1 deficiency1 test
  • Aminoglycoside-induced deafness3 tests
  • Amish lethal microcephaly7 tests
  • Amitriptyline response1 test
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis type 19 tests
  • Amyotrophic lateral sclerosis type 104 tests
  • Amyotrophic lateral sclerosis type 117 tests
  • Amyotrophic lateral sclerosis type 123 tests
  • Amyotrophic lateral sclerosis type 155 tests
  • Amyotrophic lateral sclerosis type 162 tests
  • Amyotrophic lateral sclerosis type 182 tests
  • Amyotrophic lateral sclerosis type 192 tests
  • Amyotrophic lateral sclerosis type 2, juvenile4 tests
  • Amyotrophic lateral sclerosis type 212 tests
  • Amyotrophic lateral sclerosis type 232 tests
  • Amyotrophic lateral sclerosis type 43 tests
  • Amyotrophic lateral sclerosis type 59 tests
  • Amyotrophic lateral sclerosis type 64 tests
  • Amyotrophic lateral sclerosis type 84 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 242 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 257 tests
  • Analbuminemia1 test
  • Anauxetic dysplasia 19 tests
  • Anauxetic dysplasia 22 tests
  • Andersen Tawil syndrome9 tests
  • Androgen resistance syndrome3 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency14 tests
  • Aneurysm-osteoarthritis syndrome6 tests
  • Angelman syndrome5 tests
  • Angelman syndrome-like1 test
  • Angioedema, hereditary, 41 test
  • Aniridia 116 tests
  • Aniridia 21 test
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome7 tests
  • Annular epidermolytic ichthyosis2 tests
  • Anomaly of sex chromosome1 test
  • Anophthalmia-microphthalmia syndrome1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome8 tests
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 37 tests
  • Anterior segment dysgenesis 44 tests
  • Anterior segment dysgenesis 63 tests
  • Anterior segment dysgenesis 73 tests
  • Anterior segment dysgenesis 81 test
  • Antley-Bixler syndrome1 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis4 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis6 tests
  • Aortic aneurysm, familial thoracic 102 tests
  • Aortic aneurysm, familial thoracic 11, susceptibility to3 tests
  • Aortic aneurysm, familial thoracic 45 tests
  • Aortic aneurysm, familial thoracic 66 tests
  • Aortic aneurysm, familial thoracic 74 tests
  • Aortic aneurysm, familial thoracic 84 tests
  • Aortic aneurysm, familial thoracic 92 tests
  • Aortic valve disease 17 tests
  • Aortic valve disease 22 tests
  • Aplastic anemia20 tests
  • Apparent mineralocorticoid excess4 tests
  • Arginase deficiency13 tests
  • Arginine:glycine amidinotransferase deficiency15 tests
  • Argininosuccinate lyase deficiency12 tests
  • Ariboflavinosis6 tests
  • Aripiprazole response1 test
  • Aromatase deficiency3 tests
  • Aromatase excess syndrome3 tests
  • Arrhinia with choanal atresia and microphthalmia syndrome4 tests
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma10 tests
  • Arrhythmogenic right ventricular dysplasia 15 tests
  • Arrhythmogenic right ventricular dysplasia 108 tests
  • Arrhythmogenic right ventricular dysplasia 118 tests
  • Arrhythmogenic right ventricular dysplasia 129 tests
  • Arrhythmogenic right ventricular dysplasia 26 tests
  • Arrhythmogenic right ventricular dysplasia 58 tests
  • Arrhythmogenic right ventricular dysplasia 810 tests
  • Arrhythmogenic right ventricular dysplasia 98 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 143 tests
  • Arterial calcification, generalized, of infancy, 14 tests
  • Arterial calcification, generalized, of infancy, 23 tests
  • Arterial tortuosity syndrome2 tests
  • Arteriohepatic dysplasia2 tests
  • Arthrogryposis multiplex congenita 3, myogenic type1 test
  • Arthrogryposis multiplex congenita 53 tests
  • Arthrogryposis multiplex congenita 65 tests
  • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development4 tests
  • Arthrogryposis, distal, IIa 112 tests
  • Arthrogryposis, distal, type 1A3 tests
  • Arthrogryposis, distal, type 2B33 tests
  • Arthrogryposis, distal, with impaired proprioception and touch1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 16 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 25 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Arts syndrome10 tests
  • Aspartylglucosaminuria10 tests
  • Asphyxiating thoracic dystrophy 24 tests
  • Asphyxiating thoracic dystrophy 34 tests
  • Asphyxiating thoracic dystrophy 49 tests
  • Asphyxiating thoracic dystrophy 58 tests
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2 tests
  • Ataxia - oculomotor apraxia type 43 tests
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia4 tests
  • Ataxia-hypogonadism-choroidal dystrophy syndrome3 tests
  • Ataxia-pancytopenia syndrome6 tests
  • Ataxia-telangiectasia syndrome18 tests
  • Ataxia-telangiectasia-like disorder 14 tests
  • Ateleiotic dwarfism1 test
  • Atelosteogenesis type I2 tests
  • Atelosteogenesis type II8 tests
  • Atelosteogenesis type III2 tests
  • Atomoxetine response1 test
  • Atorvastatin response1 test
  • Atransferrinemia4 tests
  • Atrial conduction disease3 tests
  • Atrial fibrillation, familial, 108 tests
  • Atrial fibrillation, familial, 112 tests
  • Atrial fibrillation, familial, 125 tests
  • Atrial fibrillation, familial, 132 tests
  • Atrial fibrillation, familial, 182 tests
  • Atrial fibrillation, familial, 36 tests
  • Atrial fibrillation, familial, 42 tests
  • Atrial fibrillation, familial, 98 tests
  • Atrial septal defect1 test
  • Atrial septal defect 25 tests
  • Atrial septal defect 31 test
  • Atrial septal defect 44 tests
  • Atrial septal defect 59 tests
  • Atrial septal defect 76 tests
  • Atrial septal defect 92 tests
  • Atrial standstill 12 tests
  • Atrichia with papular lesions1 test
  • Atrioventricular septal defect 45 tests
  • Atrioventricular septal defect 52 tests
  • Atrioventricular septal defect and common atrioventricular junction11 tests
  • Atrioventricular septal defect, susceptibility to, 21 test
  • Atrophia bulborum hereditaria3 tests
  • Attenuated familial adenomatous polyposis7 tests
  • Atypical glycine encephalopathy6 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly4 tests
  • Atypical hemolytic-uremic syndrome with C3 anomaly4 tests
  • Atypical hemolytic-uremic syndrome with I factor anomaly6 tests
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly4 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly6 tests
  • Au-Kline syndrome1 test
  • Auditory neuropathy, autosomal dominant 33 tests
  • Auriculocondylar syndrome 12 tests
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 31 test
  • Autism spectrum disorder1 test
  • Autism spectrum disorder - epilepsy - arthrogryposis syndrome3 tests
  • Autism spectrum disorder due to AUTS2 deficiency2 tests
  • Autism, susceptibility to, 154 tests
  • Autism, susceptibility to, X-linked 36 tests
  • Autoimmune disease, multisystem, infantile-onset, 26 tests
  • Autoimmune disease, susceptibility to, 63 tests
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome6 tests
  • Autoimmune interstitial lung disease-arthritis syndrome7 tests
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency8 tests
  • Autoimmune lymphoproliferative syndrome type 15 tests
  • Autoimmune lymphoproliferative syndrome type 2A4 tests
  • Autoimmune lymphoproliferative syndrome type 2B5 tests
  • Autoimmune lymphoproliferative syndrome type 47 tests
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD6 tests
  • Autoimmune thyroid disease, susceptibility to, 31 test
  • Autoinflammation with arthritis and dyskeratosis4 tests
  • Autoinflammation with episodic fever and lymphadenopathy5 tests
  • Autoinflammation, immune dysregulation, and eosinophilia5 tests
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation6 tests
  • Autoinflammatory syndrome, familial, Behcet-like3 tests
  • Autosomal chromosomal disorder1 test
  • Autosomal dominant Alport syndrome6 tests
  • Autosomal dominant aplasia and myelodysplasia5 tests
  • Autosomal dominant auditory neuropathy 11 test
  • Autosomal dominant centronuclear myopathy7 tests
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy3 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures4 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures6 tests
  • Autosomal dominant complex spastic paraplegia type 9B1 test
  • Autosomal dominant distal renal tubular acidosis6 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome14 tests
  • Autosomal dominant hypocalcemia 18 tests
  • Autosomal dominant hypocalcemia 23 tests
  • Autosomal dominant hypophosphatemic rickets4 tests
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome5 tests
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant Kenny-Caffey syndrome4 tests
  • Autosomal dominant keratitis6 tests
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome6 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)5 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1F4 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1G3 tests
  • Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency2 tests
  • Autosomal dominant mitochondrial myopathy with exercise intolerance7 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 11 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 31 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 41 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 55 tests
  • Autosomal dominant nonsyndromic hearing loss 16 tests
  • Autosomal dominant nonsyndromic hearing loss 104 tests
  • Autosomal dominant nonsyndromic hearing loss 114 tests
  • Autosomal dominant nonsyndromic hearing loss 121 test
  • Autosomal dominant nonsyndromic hearing loss 136 tests
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 176 tests
  • Autosomal dominant nonsyndromic hearing loss 204 tests
  • Autosomal dominant nonsyndromic hearing loss 221 test
  • Autosomal dominant nonsyndromic hearing loss 234 tests
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 283 tests
  • Autosomal dominant nonsyndromic hearing loss 2A1 test
  • Autosomal dominant nonsyndromic hearing loss 2B2 tests
  • Autosomal dominant nonsyndromic hearing loss 362 tests
  • Autosomal dominant nonsyndromic hearing loss 3A6 tests
  • Autosomal dominant nonsyndromic hearing loss 3B4 tests
  • Autosomal dominant nonsyndromic hearing loss 401 test
  • Autosomal dominant nonsyndromic hearing loss 411 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 4A1 test
  • Autosomal dominant nonsyndromic hearing loss 4B1 test
  • Autosomal dominant nonsyndromic hearing loss 501 test
  • Autosomal dominant nonsyndromic hearing loss 66 tests
  • Autosomal dominant nonsyndromic hearing loss 641 test
  • Autosomal dominant nonsyndromic hearing loss 654 tests
  • Autosomal dominant nonsyndromic hearing loss 661 test
  • Autosomal dominant nonsyndromic hearing loss 671 test
  • Autosomal dominant nonsyndromic hearing loss 681 test
  • Autosomal dominant nonsyndromic hearing loss 692 tests
  • Autosomal dominant nonsyndromic hearing loss 701 test
  • Autosomal dominant nonsyndromic hearing loss 91 test
  • Autosomal dominant omodysplasia2 tests
  • Autosomal dominant Opitz G/BBB syndrome1 test
  • Autosomal dominant optic atrophy classic form6 tests
  • Autosomal dominant osteopetrosis 16 tests
  • Autosomal dominant osteopetrosis 27 tests
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia10 tests
  • Autosomal dominant Parkinson disease 12 tests
  • Autosomal dominant Parkinson disease 42 tests
  • Autosomal dominant Parkinson disease 81 test
  • Autosomal dominant popliteal pterygium syndrome1 test
  • Autosomal dominant pseudohypoaldosteronism type 12 tests
  • Autosomal dominant Robinow syndrome 13 tests
  • Autosomal dominant Robinow syndrome 22 tests
  • Autosomal dominant Robinow syndrome 32 tests
  • Autosomal dominant spastic paraplegia type 91 test
  • Autosomal dominant striatal neurodegeneration type 11 test
  • Autosomal dominant vitreoretinochoroidopathy2 tests
  • Autosomal dominant wooly hair1 test
  • Autosomal recessive Alport syndrome6 tests
  • Autosomal recessive amelia1 test
  • Autosomal recessive ataxia due to ubiquinone deficiency7 tests
  • Autosomal recessive ataxia, Beauce type1 test
  • Autosomal recessive axonal neuropathy with neuromyotonia3 tests
  • Autosomal recessive bestrophinopathy2 tests
  • Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome3 tests
  • Autosomal recessive complex spastic paraplegia type 9B8 tests
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 111 test
  • Autosomal recessive congenital ichthyosis 21 test
  • Autosomal recessive congenital ichthyosis 31 test
  • Autosomal recessive congenital ichthyosis 4A2 tests
  • Autosomal recessive congenital ichthyosis 4B2 tests
  • Autosomal recessive congenital ichthyosis 51 test
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive congenital ichthyosis 81 test
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive cutis laxa type 2C3 tests
  • Autosomal recessive cutis laxa type 2D2 tests
  • Autosomal recessive distal renal tubular acidosis2 tests
  • Autosomal recessive distal spinal muscular atrophy 14 tests
  • Autosomal recessive distal spinal muscular atrophy 22 tests
  • Autosomal recessive DOPA responsive dystonia9 tests
  • Autosomal recessive early-onset Parkinson disease 231 test
  • Autosomal recessive early-onset Parkinson disease 62 tests
  • Autosomal recessive early-onset Parkinson disease 71 test
  • Autosomal recessive hypophosphatemic bone disease5 tests
  • Autosomal recessive inherited pseudoxanthoma elasticum7 tests
  • Autosomal recessive juvenile Parkinson disease 22 tests
  • Autosomal recessive Kenny-Caffey syndrome4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F10 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G11 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I15 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J13 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K10 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M15 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N10 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O11 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2R15 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2T4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type R187 tests
  • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency2 tests
  • Autosomal recessive multiple pterygium syndrome1 test
  • 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 124 tests
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 18A4 tests
  • Autosomal recessive nonsyndromic hearing loss 18B1 test
  • Autosomal recessive nonsyndromic hearing loss 1A7 tests
  • Autosomal recessive nonsyndromic hearing loss 1B4 tests
  • Autosomal recessive nonsyndromic hearing loss 24 tests
  • Autosomal recessive nonsyndromic hearing loss 211 test
  • Autosomal recessive nonsyndromic hearing loss 222 tests
  • Autosomal recessive nonsyndromic hearing loss 236 tests
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 281 test
  • Autosomal recessive nonsyndromic hearing loss 291 test
  • Autosomal recessive nonsyndromic hearing loss 32 tests
  • Autosomal recessive nonsyndromic hearing loss 301 test
  • Autosomal recessive nonsyndromic hearing loss 313 tests
  • Autosomal recessive nonsyndromic hearing loss 321 test
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 371 test
  • Autosomal recessive nonsyndromic hearing loss 391 test
  • Autosomal recessive nonsyndromic hearing loss 412 tests
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 441 test
  • Autosomal recessive nonsyndromic hearing loss 483 tests
  • Autosomal recessive nonsyndromic hearing loss 491 test
  • Autosomal recessive nonsyndromic hearing loss 536 tests
  • 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 667 tests
  • Autosomal recessive nonsyndromic hearing loss 671 test
  • Autosomal recessive nonsyndromic hearing loss 681 test
  • Autosomal recessive nonsyndromic hearing loss 72 tests
  • Autosomal recessive nonsyndromic hearing loss 704 tests
  • Autosomal recessive nonsyndromic hearing loss 741 test
  • Autosomal recessive nonsyndromic hearing loss 762 tests
  • Autosomal recessive nonsyndromic hearing loss 773 tests
  • Autosomal recessive nonsyndromic hearing loss 82 tests
  • Autosomal recessive nonsyndromic hearing loss 84B1 test
  • Autosomal recessive nonsyndromic hearing loss 864 tests
  • Autosomal recessive nonsyndromic hearing loss 881 test
  • Autosomal recessive nonsyndromic hearing loss 92 tests
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Autosomal recessive nonsyndromic hearing loss 931 test
  • Autosomal recessive nonsyndromic hearing loss 973 tests
  • Autosomal recessive nonsyndromic hearing loss 982 tests
  • Autosomal recessive omodysplasia1 test
  • Autosomal recessive optic atrophy, OPA7 type3 tests
  • Autosomal recessive osteopetrosis 15 tests
  • Autosomal recessive osteopetrosis 24 tests
  • Autosomal recessive osteopetrosis 47 tests
  • Autosomal recessive osteopetrosis 55 tests
  • Autosomal recessive osteopetrosis 75 tests
  • Autosomal recessive osteopetrosis 84 tests
  • Autosomal recessive Parkinson disease 1410 tests
  • Autosomal recessive polycystic kidney disease1 test
  • Autosomal recessive proximal renal tubular acidosis4 tests
  • Autosomal recessive pseudohypoaldosteronism type 12 tests
  • Autosomal recessive Robinow syndrome2 tests
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency4 tests
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency11 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency6 tests
  • Autosomal recessive spastic paraplegia type 762 tests
  • Autosomal recessive spastic paraplegia type 7810 tests
  • Autosomal recessive spinocerebellar ataxia 103 tests
  • Autosomal recessive spinocerebellar ataxia 124 tests
  • Autosomal recessive spinocerebellar ataxia 131 test
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 161 test
  • Autosomal recessive spinocerebellar ataxia 181 test
  • Autosomal recessive spinocerebellar ataxia 21 test
  • Autosomal recessive spinocerebellar ataxia 201 test
  • Autosomal recessive spinocerebellar ataxia 74 tests
  • Autosomal recessive spondylometaphyseal dysplasia, Megarbane type1 test
  • Autosomal systemic lupus erythematosus type 164 tests
  • Avascular necrosis of femoral head, primary, 15 tests
  • Avascular necrosis of femoral head, primary, 25 tests
  • Avellino corneal dystrophy1 test
  • Axenfeld-Rieger syndrome type 14 tests
  • Axenfeld-Rieger syndrome type 38 tests
  • Axial spondylometaphyseal dysplasia2 tests
  • Ayme-Gripp syndrome3 tests
  • B4GALT1-congenital disorder of glycosylation3 tests
  • Bailey-Bloch congenital myopathy5 tests
  • Baller-Gerold syndrome5 tests
  • Band heterotopia of brain1 test
  • Bannayan-Riley-Ruvalcaba syndrome12 tests
  • BAP1-related tumor predisposition syndrome8 tests
  • Baraitser-Winter syndrome 112 tests
  • Baraitser-winter syndrome 25 tests
  • Barber-Say syndrome1 test
  • Bardet-Biedl syndrome3 tests
  • Bardet-Biedl syndrome 111 tests
  • Bardet-Biedl syndrome 109 tests
  • Bardet-Biedl syndrome 1113 tests
  • Bardet-Biedl syndrome 129 tests
  • Bardet-Biedl syndrome 1311 tests
  • Bardet-Biedl syndrome 1416 tests
  • Bardet-Biedl syndrome 158 tests
  • Bardet-Biedl syndrome 1610 tests
  • Bardet-Biedl syndrome 175 tests
  • Bardet-Biedl syndrome 185 tests
  • Bardet-Biedl syndrome 195 tests
  • Bardet-Biedl syndrome 211 tests
  • Bardet-Biedl syndrome 201 test
  • Bardet-biedl syndrome 213 tests
  • Bardet-Biedl syndrome 224 tests
  • Bardet-Biedl syndrome 39 tests
  • Bardet-Biedl syndrome 49 tests
  • Bardet-Biedl syndrome 59 tests
  • Bardet-Biedl syndrome 66 tests
  • Bardet-Biedl syndrome 79 tests
  • Bardet-Biedl syndrome 88 tests
  • Bardet-Biedl syndrome 99 tests
  • Barrett esophagus2 tests
  • Bartsocas-Papas syndrome 21 test
  • Bartter disease type 17 tests
  • Bartter disease type 25 tests
  • Bartter disease type 36 tests
  • Bartter disease type 4A5 tests
  • Bartter disease type 4B6 tests
  • Bartter disease type 53 tests
  • Basal cell carcinoma, susceptibility to, 112 tests
  • Basal cell carcinoma, susceptibility to, 711 tests
  • Basal ganglia calcification, idiopathic, 42 tests
  • Basal ganglia calcification, idiopathic, 62 tests
  • Basal laminar drusen6 tests
  • Beaded hair1 test
  • Beare-Stevenson cutis gyrata syndrome4 tests
  • Becker muscular dystrophy14 tests
  • Beckwith-Wiedemann syndrome18 tests
  • Benign concentric annular macular dystrophy1 test
  • Benign familial hematuria6 tests
  • Benign hereditary chorea3 tests
  • Benign recurrent intrahepatic cholestasis type 12 tests
  • Benign recurrent intrahepatic cholestasis type 22 tests
  • Bent bone dysplasia syndrome 13 tests
  • Bent bone dysplasia syndrome 21 test
  • BENTA disease5 tests
  • Bernard Soulier syndrome2 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant2 tests
  • beta Thalassemia1 test
  • Beta-D-mannosidosis6 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency6 tests
  • Beta-thalassemia HBB/LCRB3 tests
  • Beta-thalassemia-X-linked thrombocytopenia syndrome9 tests
  • Bethlem myopathy 1A7 tests
  • Bethlem myopathy 27 tests
  • Bietti crystalline corneoretinal dystrophy3 tests
  • Bifunctional peroxisomal enzyme deficiency7 tests
  • Bilateral frontoparietal polymicrogyria3 tests
  • Bilateral parasagittal parieto-occipital polymicrogyria7 tests
  • Bile acid conjugation defect 11 test
  • Bile acid malabsorption, primary, 13 tests
  • Bilirubin, serum level of, quantitative trait locus 12 tests
  • Biotin-responsive basal ganglia disease10 tests
  • Biotinidase deficiency14 tests
  • Birt-Hogg-Dube syndrome5 tests
  • Blau syndrome5 tests
  • Bleeding disorder, platelet-type, 13, susceptibility to2 tests
  • Bleeding disorder, platelet-type, 212 tests
  • Bleeding disorder, platelet-type, 241 test
  • Blepharocheilodontic syndrome 14 tests
  • Blepharophimosis - intellectual disability syndrome, MKB type7 tests
  • Blepharophimosis - intellectual disability syndrome, SBBYS type6 tests
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
  • Blepharophimosis-impaired intellectual development syndrome1 test
  • BLOOD GROUP, EMM SYSTEM1 test
  • Blood group, Gerbich system2 tests
  • BLOOD GROUP--DIEGO SYSTEM6 tests
  • BLOOD GROUP--FROESE6 tests
  • BLOOD GROUP--LUTHERAN INHIBITOR3 tests
  • BLOOD GROUP--SWANN SYSTEM6 tests
  • BLOOD GROUP--WALDNER TYPE6 tests
  • BLOOD GROUP--WRIGHT ANTIGEN6 tests
  • Bloom syndrome13 tests
  • Blue color blindness1 test
  • BNAR syndrome4 tests
  • Body mass index quantitative trait locus 123 tests
  • Body mass index quantitative trait locus 141 test
  • Body mass index quantitative trait locus 181 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201 test
  • Body mass index quantitative trait locus 41 test
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
  • Bohring-Opitz syndrome3 tests
  • Bone fragility with contractures, arterial rupture, and deafness1 test
  • Bone marrow failure syndrome 35 tests
  • Bone marrow failure syndrome 46 tests
  • Bone marrow failure syndrome 511 tests
  • Bone mineral density quantitative trait locus 16 tests
  • Bone mineral density quantitative trait locus 182 tests
  • Bone osteosarcoma14 tests
  • Boomerang dysplasia2 tests
  • Borjeson-Forssman-Lehmann syndrome5 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome3 tests
  • Bothnia retinal dystrophy4 tests
  • Brachydactyly type A11 test
  • Brachydactyly type A1A1 test
  • Brachydactyly type A1C3 tests
  • Brachydactyly type A1D2 tests
  • Brachydactyly type B12 tests
  • Brachydactyly type B24 tests
  • Brachydactyly type C3 tests
  • Brachydactyly type D1 test
  • Brachydactyly type E11 test
  • Brachydactyly type E22 tests
  • Brachydactyly-arterial hypertension syndrome1 test
  • Brachydactyly-elbow wrist dysplasia syndrome1 test
  • Brachydactyly-syndactyly syndrome1 test
  • Brachyolmia-amelogenesis imperfecta syndrome4 tests
  • Brachyrachia (short spine dysplasia)5 tests
  • Bradyopsia2 tests
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis3 tests
  • Brain small vessel disease 1 with or without ocular anomalies14 tests
  • Brain small vessel disease 31 test
  • Brain-lung-thyroid syndrome3 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency2 tests
  • Branchiooculofacial syndrome3 tests
  • Branchiootic syndrome 14 tests
  • Branchiootic syndrome 34 tests
  • Branchiootorenal syndrome 14 tests
  • Branchiootorenal syndrome 21 test
  • Breast and/or ovarian cancer2 tests
  • Breast cancer, early-onset8 tests
  • Breast cancer, familial male3 tests
  • Breast cancer, susceptibility to10 tests
  • Breast lobular carcinoma8 tests
  • Breast neoplasm11 tests
  • Breast-ovarian cancer, familial, susceptibility to, 118 tests
  • Breast-ovarian cancer, familial, susceptibility to, 221 tests
  • Breast-ovarian cancer, familial, susceptibility to, 39 tests
  • Breast-ovarian cancer, familial, susceptibility to, 46 tests
  • Brittle cornea syndrome 14 tests
  • Brittle cornea syndrome 22 tests
  • Brody myopathy3 tests
  • Bronchiectasis with or without elevated sweat chloride 111 tests
  • Bronchiectasis with or without elevated sweat chloride 22 tests
  • Bronchiectasis with or without elevated sweat chloride 32 tests
  • Brown-Vialetto-van Laere syndrome 19 tests
  • Brown-Vialetto-van Laere syndrome 29 tests
  • Bruck syndrome 13 tests
  • Bruck syndrome 22 tests
  • Brugada syndrome1 test
  • Brugada syndrome 19 tests
  • Brugada syndrome 23 tests
  • Brugada syndrome 39 tests
  • Brugada syndrome 43 tests
  • Brugada syndrome 52 tests
  • Brugada syndrome 88 tests
  • Brunner syndrome4 tests
  • Budd-Chiari syndrome6 tests
  • Bullous ichthyosiform erythroderma2 tests
  • C1 inhibitor deficiency4 tests
  • C1Q deficiency3 tests
  • Café-au-lait macules with pulmonary stenosis14 tests
  • Calcium oxalate urolithiasis2 tests
  • Calvarial doughnut lesions-bone fragility syndrome2 tests
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome3 tests
  • Camptomelic dysplasia4 tests
  • Camptosynpolydactyly, complex1 test
  • Candidiasis, familial, 62 tests
  • Candidiasis, familial, 82 tests
  • Candidiasis, familial, 92 tests
  • Capillary infantile hemangioma1 test
  • Capillary malformation-arteriovenous malformation 15 tests
  • Capillary malformation-arteriovenous malformation 21 test
  • CARASIL syndrome2 tests
  • Carcinoid tumor of intestine5 tests
  • Carcinoma of cervix1 test
  • Carcinoma of colon12 tests
  • Carcinoma of pancreas26 tests
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome3 tests
  • Cardiac arrhythmia4 tests
  • Cardiac arrhythmia, ankyrin-B-related1 test
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2 tests
  • Cardiac valvular defect, developmental1 test
  • Cardiac valvular dysplasia, X-linked9 tests
  • Cardio-facio-cutaneous syndrome1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 19 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 25 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 31 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
  • Cardiofaciocutaneous syndrome 17 tests
  • Cardiofaciocutaneous syndrome 29 tests
  • Cardiofaciocutaneous syndrome 39 tests
  • Cardiofaciocutaneous syndrome 48 tests
  • Cardiomyopathy, dilated, 2c3 tests
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis10 tests
  • Cardiomyopathy, familial hypertrophic 274 tests
  • Cardiomyopathy, familial restrictive, 19 tests
  • Cardiomyopathy, familial restrictive, 39 tests
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome3 tests
  • Cardiospondylocarpofacial syndrome1 test
  • Carney complex5 tests
  • Carney complex, type 112 tests
  • Carney-Stratakis syndrome14 tests
  • Carnitine acylcarnitine translocase deficiency8 tests
  • Carnitine palmitoyl transferase 1A deficiency9 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form17 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form17 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form17 tests
  • Carnitine palmitoyltransferase II deficiency1 test
  • Carotid intimal medial thickness 12 tests
  • Carpal tunnel syndrome 14 tests
  • Carpal tunnel syndrome 21 test
  • Carvedilol response1 test
  • Cataract1 test
  • Cataract 1 multiple types2 tests
  • Cataract 10 multiple types1 test
  • Cataract 11 multiple types2 tests
  • Cataract 12 multiple types1 test
  • Cataract 13 with adult I phenotype1 test
  • Cataract 15 multiple types1 test
  • Cataract 16 multiple types8 tests
  • Cataract 17 multiple types1 test
  • Cataract 181 test
  • Cataract 20 multiple types1 test
  • Cataract 21 multiple types3 tests
  • Cataract 22 multiple types1 test
  • Cataract 231 test
  • Cataract 331 test
  • Cataract 34 multiple types3 tests
  • Cataract 385 tests
  • Cataract 402 tests
  • Cataract 416 tests
  • Cataract 441 test
  • Cataract 5 multiple types1 test
  • Cataract 9 multiple types2 tests
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome3 tests
  • CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY3 tests
  • Catecholaminergic polymorphic ventricular tachycardia1 test
  • Catecholaminergic polymorphic ventricular tachycardia 110 tests
  • Catecholaminergic polymorphic ventricular tachycardia 27 tests
  • Catecholaminergic polymorphic ventricular tachycardia 45 tests
  • Catecholaminergic polymorphic ventricular tachycardia 56 tests
  • Catel-Manzke syndrome3 tests
  • CBL-related disorder10 tests
  • CCDC115-CDG4 tests
  • CDC73-related disorder3 tests
  • CEDNIK syndrome4 tests
  • Celecoxib response1 test
  • Celiac disease, susceptibility to, 38 tests
  • Cenani-Lenz syndactyly syndrome5 tests
  • Centra precocious puberty 11 test
  • Central core myopathy10 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome7 tests
  • Cerebellar ataxia-hypogonadism syndrome1 test
  • Cerebellar atrophy with seizures and variable developmental delay1 test
  • Cerebellar atrophy, developmental delay, and seizures5 tests
  • Cerebellar atrophy, visual impairment, and psychomotor retardation;3 tests
  • Cerebellar dysfunction with variable cognitive and behavioral abnormalities1 test
  • Cerebral amyloid angiopathy, APP-related3 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 22 tests
  • Cerebral arteriovenous malformation7 tests
  • Cerebral cavernous malformation2 tests
  • Cerebral cavernous malformation 11 test
  • Cerebral cavernous malformation 22 tests
  • Cerebral cavernous malformation 32 tests
  • Cerebral creatine deficiency syndrome1 test
  • Cerebral folate transport deficiency7 tests
  • Cerebral palsy, spastic quadriplegic, 23 tests
  • Cerebral palsy, spastic quadriplegic, 31 test
  • Cerebro-costo-mandibular syndrome2 tests
  • Cerebrooculofacioskeletal syndrome 14 tests
  • Cerebrooculofacioskeletal syndrome 28 tests
  • Cerebrooculofacioskeletal syndrome 31 test
  • Cerebrooculofacioskeletal syndrome 41 test
  • Cerebroretinal microangiopathy with calcifications and cysts 18 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 27 tests
  • Cernunnos-XLF deficiency3 tests
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
  • Ceroid lipofuscinosis, neuronal, 6A10 tests
  • Ceroid lipofuscinosis, neuronal, 6B (Kufs type)10 tests
  • Cervical cancer2 tests
  • CFHR5 deficiency2 tests
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive3 tests
  • Char syndrome2 tests
  • Charcot-Marie-Tooth disease axonal type 2C5 tests
  • Charcot-Marie-Tooth disease axonal type 2CC2 tests
  • Charcot-Marie-Tooth disease axonal type 2F3 tests
  • Charcot-Marie-Tooth disease axonal type 2K4 tests
  • Charcot-Marie-Tooth disease axonal type 2L3 tests
  • Charcot-Marie-Tooth disease axonal type 2O6 tests
  • Charcot-Marie-Tooth disease axonal type 2P2 tests
  • Charcot-Marie-Tooth disease axonal type 2Q5 tests
  • Charcot-Marie-Tooth disease axonal type 2S4 tests
  • Charcot-Marie-Tooth disease axonal type 2T2 tests
  • Charcot-Marie-Tooth disease axonal type 2V13 tests
  • Charcot-Marie-Tooth disease axonal type 2X8 tests
  • Charcot-Marie-Tooth disease axonal type 2Z4 tests
  • Charcot-Marie-Tooth disease dominant intermediate B7 tests
  • Charcot-Marie-Tooth disease dominant intermediate D4 tests
  • Charcot-Marie-Tooth disease dominant intermediate E6 tests
  • Charcot-Marie-Tooth disease dominant intermediate F2 tests
  • Charcot-Marie-Tooth disease recessive intermediate A4 tests
  • Charcot-Marie-Tooth disease recessive intermediate C4 tests
  • Charcot-Marie-Tooth disease recessive intermediate D3 tests
  • Charcot-Marie-Tooth disease type 1B4 tests
  • Charcot-Marie-Tooth disease type 1C2 tests
  • Charcot-Marie-Tooth disease type 1D2 tests
  • Charcot-Marie-Tooth disease type 1E4 tests
  • Charcot-Marie-Tooth disease type 1F2 tests
  • Charcot-Marie-Tooth disease type 2A24 tests
  • Charcot-Marie-Tooth disease type 2B2 tests
  • Charcot-Marie-Tooth disease type 2B120 tests
  • Charcot-Marie-Tooth disease type 2B25 tests
  • Charcot-Marie-Tooth disease type 2E2 tests
  • Charcot-Marie-Tooth disease type 2I4 tests
  • Charcot-Marie-Tooth disease type 2J4 tests
  • Charcot-Marie-Tooth disease type 2R2 tests
  • Charcot-Marie-Tooth disease type 2Y5 tests
  • Charcot-Marie-Tooth disease type 4A4 tests
  • Charcot-Marie-Tooth disease type 4B12 tests
  • Charcot-Marie-Tooth disease type 4B23 tests
  • Charcot-Marie-Tooth disease type 4B32 tests
  • Charcot-Marie-Tooth disease type 4C4 tests
  • Charcot-Marie-Tooth disease type 4D5 tests
  • Charcot-Marie-Tooth disease type 4E2 tests
  • Charcot-Marie-Tooth disease type 4F2 tests
  • Charcot-Marie-Tooth disease type 4G5 tests
  • Charcot-Marie-Tooth disease type 4H2 tests
  • Charcot-Marie-Tooth disease type 4J7 tests
  • Charcot-Marie-Tooth disease type 4K8 tests
  • Charcot-Marie-Tooth disease X-linked dominant 15 tests
  • Charcot-Marie-Tooth disease X-linked dominant 64 tests
  • Charcot-Marie-Tooth disease X-linked recessive 43 tests
  • Charcot-Marie-Tooth disease X-linked recessive 510 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;4 tests
  • Charcot-Marie-Tooth disease, axonal, IIa 2II1 test
  • Charcot-marie-tooth disease, axonal, type 2DD3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2EE8 tests
  • Charcot-Marie-Tooth disease, axonal, Type 2HH1 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive4 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1G2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate G2 tests
  • Charcot-Marie-Tooth disease, type IA4 tests
  • CHARGE association13 tests
  • Charlevoix-Saguenay spastic ataxia4 tests
  • Chilblain lupus 112 tests
  • Chilblain lupus 29 tests
  • Child syndrome4 tests
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency6 tests
  • Childhood hypophosphatasia7 tests
  • Childhood onset GLUT1 deficiency syndrome 211 tests
  • CHIME syndrome3 tests
  • Chitotriosidase deficiency2 tests
  • Cholestanol storage disease19 tests
  • Cholestasis, intrahepatic, of pregnancy, 12 tests
  • Cholestasis, intrahepatic, of pregnancy, 33 tests
  • Cholestasis, progressive familial intrahepatic, 121 test
  • Cholestasis, progressive familial intrahepatic, 42 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type3 tests
  • Chondrodysplasia punctata 2 X-linked dominant3 tests
  • Chondrosarcoma5 tests
  • Chorea, childhood-onset, with psychomotor retardation1 test
  • Chorea-acanthocytosis5 tests
  • Choroid plexus papilloma11 tests
  • Choroidal dystrophy, central areolar 22 tests
  • Choroidal dystrophy, central areolar, 13 tests
  • Choroideremia3 tests
  • Christianson syndrome4 tests
  • Chromosome 11, deletion 11p1 test
  • Chromosome 11, partial trisomy 11q1 test
  • Chromosome 11q trisomy1 test
  • Chromosome 13q trisomy1 test
  • Chromosome 14 deletion1 test
  • Chromosome 14 trisomy1 test
  • Chromosome 15q, tetrasomy1 test
  • Chromosome 15q11.2 deletion syndrome1 test
  • Chromosome 16 trisomy1 test
  • Chromosome 17p deletion1 test
  • Chromosome 1p32-p31 deletion syndrome2 tests
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 1q deletion1 test
  • Chromosome 1q21.1 deletion syndrome3 tests
  • Chromosome 2p16.3 deletion syndrome3 tests
  • Chromosome 2q32-q33 deletion syndrome4 tests
  • Chromosome 3, monosomy 3p14 p111 test
  • Chromosome 4 short arm deletion1 test
  • Chromosome 4, Trisomy 4p1 test
  • Chromosome 5, trisomy 5p1 test
  • Chromosome 7, monosomy1 test
  • Chromosome 8, monosomy 8p1 test
  • Chromosome 9, trisomy 9p1 test
  • Chromosome 9, trisomy 9q1 test
  • Chromosome 9p deletion syndrome1 test
  • Chromosome Xq28 duplication syndrome2 tests
  • Chronic infantile neurological, cutaneous and articular syndrome6 tests
  • Chronic myelogenous leukemia, BCR-ABL1 positive1 test
  • Chudley-McCullough syndrome2 tests
  • Chuvash polycythemia8 tests
  • Chylomicron retention disease6 tests
  • Chédiak-Higashi syndrome11 tests
  • Ciliary dyskinesia, primary, 373 tests
  • Ciliary dyskinesia, primary, 393 tests
  • Ciliary dyskinesia, primary, 403 tests
  • Ciliary dyskinesia, primary, 423 tests
  • Citalopram response1 test
  • Citrin deficiency2 tests
  • Citrullinemia1 test
  • Citrullinemia type I12 tests
  • Citrullinemia type II2 tests
  • Citrullinemia, type II, adult-onset10 tests
  • CK syndrome4 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency3 tests
  • Classic dopamine transporter deficiency syndrome7 tests
  • Classic Hodgkin lymphoma1 test
  • Classic homocystinuria15 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome2 tests
  • Cleidocranial dysostosis1 test
  • Clopidogrel response1 test
  • Clozapine response1 test
  • Clubfoot1 test
  • COACH syndrome1 test
  • COACH syndrome 19 tests
  • COACH syndrome 28 tests
  • COACH syndrome 35 tests
  • Cobalamin C disease16 tests
  • Cobblestone lissencephaly without muscular or ocular involvement2 tests
  • Cockayne syndrome type 14 tests
  • Cockayne syndrome type 24 tests
  • Cocoon syndrome2 tests
  • CODAS syndrome4 tests
  • Codeine response1 test
  • Coenzyme Q10 deficiency, primary, 110 tests
  • Coenzyme Q10 deficiency, primary, 39 tests
  • Coffin-Lowry syndrome6 tests
  • Coffin-Siris syndrome 14 tests
  • Coffin-Siris syndrome 55 tests
  • Coffin-Siris syndrome 74 tests
  • COG1 congenital disorder of glycosylation3 tests
  • COG4-congenital disorder of glycosylation2 tests
  • COG5-congenital disorder of glycosylation3 tests
  • COG6-ongenital disorder of glycosylation3 tests
  • COG7 congenital disorder of glycosylation6 tests
  • COG8-congenital disorder of glycosylation2 tests
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome5 tests
  • Cognitive impairment with or without cerebellar ataxia4 tests
  • Cohen syndrome11 tests
  • Cohen-Gibson syndrome1 test
  • Cold-induced sweating syndrome 11 test
  • Cole-Carpenter syndrome 12 tests
  • Cole-Carpenter syndrome 24 tests
  • Coloboma of optic nerve6 tests
  • Coloboma, ocular, autosomal dominant5 tests
  • Coloboma, ocular, autosomal recessive1 test
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness5 tests
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome3 tests
  • Colorectal cancer28 tests
  • Colorectal cancer, hereditary nonpolyposis, type 225 tests
  • Colorectal cancer, hereditary nonpolyposis, type 611 tests
  • Colorectal cancer, susceptibility to, 1010 tests
  • Colorectal cancer, susceptibility to, 1210 tests
  • Colton Blood group system1 test
  • Combined deficiency of sialidase AND beta galactosidase6 tests
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia6 tests
  • Combined immunodeficiency due to CD3gamma deficiency6 tests
  • Combined immunodeficiency due to DOCK8 deficiency8 tests
  • Combined immunodeficiency due to GINS1 deficiency3 tests
  • Combined immunodeficiency due to LRBA deficiency7 tests
  • Combined immunodeficiency due to MALT1 deficiency3 tests
  • Combined immunodeficiency due to moesin deficiency4 tests
  • Combined immunodeficiency due to ORAI1 deficiency6 tests
  • Combined immunodeficiency due to OX40 deficiency3 tests
  • Combined immunodeficiency due to partial RAG1 deficiency8 tests
  • Combined immunodeficiency due to STIM1 deficiency9 tests
  • Combined immunodeficiency due to STK4 deficiency6 tests
  • Combined immunodeficiency due to ZAP70 deficiency6 tests
  • Combined immunodeficiency with skin granulomas8 tests
  • Combined immunodeficiency, X-linked9 tests
  • Combined malonic and methylmalonic acidemia8 tests
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 13 tests
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 23 tests
  • Combined oxidative phosphorylation defect type 115 tests
  • Combined oxidative phosphorylation defect type 134 tests
  • Combined oxidative phosphorylation defect type 145 tests
  • Combined oxidative phosphorylation defect type 152 tests
  • Combined oxidative phosphorylation defect type 174 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 243 tests
  • Combined oxidative phosphorylation defect type 253 tests
  • Combined oxidative phosphorylation defect type 264 tests
  • Combined oxidative phosphorylation defect type 273 tests
  • Combined oxidative phosphorylation defect type 301 test
  • Combined oxidative phosphorylation defect type 43 tests
  • Combined oxidative phosphorylation defect type 72 tests
  • Combined oxidative phosphorylation defect type 82 tests
  • Combined oxidative phosphorylation defect type 91 test
  • Combined oxidative phosphorylation deficiency 192 tests
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 291 test
  • Combined oxidative phosphorylation deficiency 322 tests
  • Combined oxidative phosphorylation deficiency 331 test
  • Combined oxidative phosphorylation deficiency 341 test
  • Combined oxidative phosphorylation deficiency 351 test
  • Combined oxidative phosphorylation deficiency 361 test
  • Combined oxidative phosphorylation deficiency 381 test
  • Combined oxidative phosphorylation deficiency 392 tests
  • Combined oxidative phosphorylation deficiency 402 tests
  • Combined oxidative phosphorylation deficiency 442 tests
  • Combined oxidative phosphorylation deficiency 452 tests
  • Combined oxidative phosphorylation deficiency 461 test
  • Combined oxidative phosphorylation deficiency 482 tests
  • Combined PSAP deficiency6 tests
  • Complement component 2 deficiency3 tests
  • Complement component 3 deficiency4 tests
  • Complement component 5 deficiency3 tests
  • Complement component 6 deficiency3 tests
  • Complement component 7 deficiency3 tests
  • Complement component 9 deficiency3 tests
  • Complement component C1s deficiency4 tests
  • Complement factor b deficiency4 tests
  • Complete trisomy 13 syndrome2 tests
  • Complete trisomy 20 syndrome1 test
  • Complete trisomy 21 syndrome12 tests
  • Complex cortical dysplasia with other brain malformations 13 tests
  • Complex cortical dysplasia with other brain malformations 32 tests
  • Complex cortical dysplasia with other brain malformations 42 tests
  • Complex cortical dysplasia with other brain malformations 54 tests
  • Complex cortical dysplasia with other brain malformations 71 test
  • Compton-North congenital myopathy3 tests
  • Cone dystrophy 31 test
  • Cone dystrophy 42 tests
  • Cone dystrophy with supernormal rod response2 tests
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 112 tests
  • Cone-rod dystrophy 122 tests
  • Cone-rod dystrophy 132 tests
  • Cone-rod dystrophy 151 test
  • Cone-rod dystrophy 163 tests
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 22 tests
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 212 tests
  • Cone-rod dystrophy 33 tests
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 63 tests
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy and hearing loss 12 tests
  • Cone-rod dystrophy and hearing loss 23 tests
  • Cone-rod synaptic disorder, congenital nonprogressive2 tests
  • Congenital absence of salivary gland2 tests
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency4 tests
  • Congenital adrenal hypoplasia, X-linked7 tests
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency4 tests
  • Congenital afibrinogenemia1 test
  • Congenital amegakaryocytic thrombocytopenia6 tests
  • Congenital anomalies of kidney and urinary tract 12 tests
  • Congenital anomalies of kidney and urinary tract 21 test
  • Congenital anomalies of kidney and urinary tract 32 tests
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation10 tests
  • Congenital bile acid synthesis defect 12 tests
  • Congenital bile acid synthesis defect 21 test
  • Congenital bile acid synthesis defect 37 tests
  • Congenital bile acid synthesis defect 49 tests
  • Congenital bile acid synthesis defect 52 tests
  • Congenital bile acid synthesis defect 62 tests
  • Congenital brain dysgenesis due to glutamine synthetase deficiency4 tests
  • Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3 tests
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome4 tests
  • Congenital central hypoventilation1 test
  • Congenital chromosomal disease1 test
  • Congenital contractural arachnodactyly2 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital defect of folate absorption7 tests
  • Congenital diarrhea 5 with tufting enteropathy8 tests
  • Congenital diarrhea 63 tests
  • Congenital diarrhea 7 with exudative enteropathy4 tests
  • Congenital disorder of deglycosylation7 tests
  • Congenital disorder of deglycosylation 13 tests
  • Congenital disorder of glycosylation1 test
  • Congenital disorder of glycosylation type 1E7 tests
  • Congenital disorder of glycosylation type Ir3 tests
  • Congenital disorder of glycosylation with defective fucosylation 12 tests
  • Congenital disorder of glycosylation, type IAA4 tests
  • Congenital disorder of glycosylation, type ICC9 tests
  • Congenital disorder of glycosylation, type IIq2 tests
  • Congenital disorder of glycosylation, type IIr6 tests
  • Congenital disorder of glycosylation, type IIw5 tests
  • Congenital dyserythropoietic anemia type 43 tests
  • Congenital dyserythropoietic anemia, type II6 tests
  • Congenital generalized lipodystrophy type 12 tests
  • Congenital generalized lipodystrophy type 27 tests
  • Congenital generalized lipodystrophy type 33 tests
  • Congenital glucose-galactose malabsorption5 tests
  • Congenital heart block1 test
  • Congenital heart defects and skeletal malformations syndrome1 test
  • 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, 53 tests
  • Congenital heart defects, multiple types, 62 tests
  • Congenital heart disease1 test
  • Congenital hepatic fibrosis1 test
  • Congenital hereditary endothelial dystrophy of cornea3 tests
  • Congenital hyperammonemia, type I12 tests
  • Congenital hypotrichosis with juvenile macular dystrophy4 tests
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome5 tests
  • Congenital insensitivity to pain-hypohidrosis syndrome2 tests
  • Congenital isolated adrenocorticotropic hormone deficiency2 tests
  • Congenital lactase deficiency3 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type3 tests
  • Congenital lipoid adrenal hyperplasia due to STAR deficency2 tests
  • Congenital long QT syndrome1 test
  • Congenital malabsorptive diarrhea 44 tests
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome10 tests
  • Congenital microvillous atrophy4 tests
  • Congenital multicore myopathy with external ophthalmoplegia10 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency4 tests
  • Congenital muscular dystrophy due to LMNA mutation19 tests
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy7 tests
  • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome2 tests
  • Congenital muscular hypertrophy-cerebral syndrome7 tests
  • Congenital myasthenic syndrome 103 tests
  • Congenital myasthenic syndrome 115 tests
  • Congenital myasthenic syndrome 124 tests
  • Congenital myasthenic syndrome 136 tests
  • Congenital myasthenic syndrome 143 tests
  • Congenital myasthenic syndrome 154 tests
  • Congenital myasthenic syndrome 168 tests
  • Congenital myasthenic syndrome 175 tests
  • Congenital myasthenic syndrome 181 test
  • Congenital myasthenic syndrome 192 tests
  • Congenital myasthenic syndrome 1A2 tests
  • Congenital myasthenic syndrome 204 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 4A5 tests
  • Congenital myasthenic syndrome 4B5 tests
  • Congenital myasthenic syndrome 4C7 tests
  • Congenital myasthenic syndrome 52 tests
  • Congenital myasthenic syndrome 72 tests
  • Congenital myasthenic syndrome 82 tests
  • Congenital myasthenic syndrome 93 tests
  • Congenital myopathy 233 tests
  • Congenital myopathy 4A, autosomal dominant5 tests
  • Congenital myopathy 4B, autosomal recessive3 tests
  • Congenital myopathy with fiber type disproportion10 tests
  • Congenital myopathy with internal nuclei and atypical cores3 tests
  • Congenital myotonia, autosomal dominant form6 tests
  • Congenital myotonia, autosomal recessive form6 tests
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome5 tests
  • Congenital primary aphakia3 tests
  • Congenital prothrombin deficiency4 tests
  • Congenital reticular ichthyosiform erythroderma2 tests
  • Congenital secretory diarrhea, chloride type4 tests
  • Congenital secretory sodium diarrhea 33 tests
  • Congenital secretory sodium diarrhea 83 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome8 tests
  • Congenital stationary night blindness 1A2 tests
  • Congenital stationary night blindness 1B2 tests
  • Congenital stationary night blindness 1C2 tests
  • Congenital stationary night blindness 1D2 tests
  • Congenital stationary night blindness 1E2 tests
  • Congenital stationary night blindness 1F2 tests
  • Congenital stationary night blindness 1G2 tests
  • Congenital stationary night blindness 1H2 tests
  • Congenital stationary night blindness 2A2 tests
  • Congenital stationary night blindness autosomal dominant 12 tests
  • Congenital stationary night blindness autosomal dominant 22 tests
  • Congenital stationary night blindness autosomal dominant 32 tests
  • Congenital stromal corneal dystrophy1 test
  • Conotruncal heart malformations14 tests
  • Constitutional megaloblastic anemia with severe neurologic disease6 tests
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A3 tests
  • Contractures, pterygia, and variable skeletal fusions syndrome 1B3 tests
  • COPD, severe early onset4 tests
  • Cornea plana 22 tests
  • Corneal dystrophy, Fuchs endothelial, 12 tests
  • Corneal dystrophy, Fuchs endothelial, 34 tests
  • Corneal dystrophy, Fuchs endothelial, 43 tests
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, lattice type 3A1 test
  • Corneal dystrophy, Meesmann, 11 test
  • Corneal dystrophy, Meesmann, 21 test
  • Corneal dystrophy, posterior polymorphous, 43 tests
  • Corneal dystrophy-perceptive deafness syndrome3 tests
  • Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome4 tests
  • Cornelia de Lange syndrome 13 tests
  • Cornelia de Lange syndrome 33 tests
  • Cornelia de Lange syndrome 44 tests
  • Cornelia de Lange syndrome 54 tests
  • Coronary artery disease, autosomal dominant 22 tests
  • Corpus callosum agenesis-abnormal genitalia syndrome9 tests
  • Cortical dysplasia, complex, with other brain malformations 102 tests
  • Cortical dysplasia-focal epilepsy syndrome5 tests
  • Corticosterone 18-monooxygenase deficiency3 tests
  • Corticosterone methyloxidase type 2 deficiency3 tests
  • Cortisone reductase deficiency 11 test
  • Costello syndrome9 tests
  • Cowden syndrome10 tests
  • Cowden syndrome 119 tests
  • Cowden syndrome 34 tests
  • Cowden syndrome 76 tests
  • Coxopodopatellar syndrome1 test
  • Craniodiaphyseal dysplasia, autosomal dominant1 test
  • Cranioectodermal dysplasia2 tests
  • Cranioectodermal dysplasia 15 tests
  • Cranioectodermal dysplasia 23 tests
  • Cranioectodermal dysplasia 34 tests
  • Cranioectodermal dysplasia 48 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
  • Craniofacial dysplasia - osteopenia syndrome1 test
  • Craniofacial-deafness-hand syndrome2 tests
  • Craniofrontonasal syndrome1 test
  • Craniolenticulosutural dysplasia2 tests
  • Craniometaphyseal dysplasia, autosomal dominant1 test
  • Craniometaphyseal dysplasia, autosomal recessive10 tests
  • Craniosynostosis 22 tests
  • Craniosynostosis 41 test
  • Craniosynostosis 5, susceptibility to1 test
  • Craniosynostosis 62 tests
  • Craniosynostosis 72 tests
  • Craniosynostosis syndrome1 test
  • Creatine transporter deficiency12 tests
  • Crigler-Najjar syndrome type 12 tests
  • Crigler-Najjar syndrome, type II2 tests
  • Cromer blood group system6 tests
  • Crouzon syndrome4 tests
  • Crouzon syndrome-acanthosis nigricans syndrome4 tests
  • Cryohydrocytosis6 tests
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome5 tests
  • Currarino triad3 tests
  • Curry-Hall syndrome9 tests
  • Cutaneous leiomyoma1 test
  • Cutaneous mastocytosis4 tests
  • Cutaneous porphyria2 tests
  • Cutis laxa with osteodystrophy4 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1 test
  • Cutis laxa, autosomal dominant 12 tests
  • Cutis laxa, autosomal dominant 23 tests
  • Cutis laxa, autosomal dominant 310 tests
  • Cutis laxa, autosomal recessive, type 1A3 tests
  • Cutis laxa, autosomal recessive, type 1B1 test
  • Cutis laxa, X-linked13 tests
  • Cyclical neutropenia8 tests
  • Cyclosporine response1 test
  • CYP2C19-related poor drug metabolism1 test
  • Cystic fibrosis18 tests
  • Cystic leukoencephalopathy without megalencephaly2 tests
  • Cystinosis2 tests
  • Cystinuria3 tests
  • Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder2 tests
  • D,L-2-hydroxyglutaric aciduria1 test
  • D-2-hydroxyglutaric aciduria 15 tests
  • D-2-hydroxyglutaric aciduria 24 tests
  • D-Glyceric aciduria2 tests
  • Dalmatian hypouricemia3 tests
  • Danon disease13 tests
  • DDX41-related hematologic malignancy predisposition syndrome3 tests
  • DE SANCTIS-CACCHIONE SYNDROME4 tests
  • Deafness dystonia syndrome4 tests
  • Deafness with labyrinthine aplasia, microtia, and microdontia1 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness, congenital heart defects, and posterior embryotoxon8 tests
  • Deafness, X-linked 53 tests
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome6 tests
  • Deafness-lymphedema-leukemia syndrome11 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase5 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase8 tests
  • Deficiency of acetyl-CoA acetyltransferase12 tests
  • Deficiency of alpha-mannosidase11 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase10 tests
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of bisphosphoglycerate mutase2 tests
  • Deficiency of butyryl-CoA dehydrogenase6 tests
  • Deficiency of cytochrome-b5 reductase2 tests
  • Deficiency of ferroxidase7 tests
  • Deficiency of galactokinase5 tests
  • Deficiency of guanidinoacetate methyltransferase10 tests
  • Deficiency of hyaluronoglucosaminidase5 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase13 tests
  • Deficiency of iodide peroxidase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase3 tests
  • Deficiency of malonyl-CoA decarboxylase10 tests
  • Deficiency of phosphoserine phosphatase6 tests
  • Deficiency of steroid 11-beta-monooxygenase3 tests
  • Deficiency of steroid 17-alpha-monooxygenase3 tests
  • Deficiency of transaldolase2 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase8 tests
  • Dehydrated hereditary stomatocytosis 22 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
  • Dejerine-Sottas disease4 tests
  • Deletion of long arm of chromosome 131 test
  • Delpire-McNeill syndrome2 tests
  • Dent disease1 test
  • Dent disease type 16 tests
  • Dent disease type 210 tests
  • Denticles1 test
  • Dentin dysplasia type I1 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Dermatofibrosis lenticularis disseminata2 tests
  • Dermatopathia pigmentosa reticularis2 tests
  • Desbuquois dysplasia 14 tests
  • Desbuquois dysplasia 23 tests
  • Desmin-related myofibrillar myopathy13 tests
  • Desmoid disease, hereditary14 tests
  • Desmosterolosis2 tests
  • Developmental and epileptic encephalopathy 1011 test
  • Developmental and epileptic encephalopathy 31B1 test
  • Developmental and epileptic encephalopathy 6B1 test
  • Developmental and epileptic encephalopathy 891 test
  • Developmental and epileptic encephalopathy 942 tests
  • Developmental and epileptic encephalopathy 981 test
  • Developmental and epileptic encephalopathy 991 test
  • Developmental and epileptic encephalopathy, 110 tests
  • Developmental and epileptic encephalopathy, 113 tests
  • Developmental and epileptic encephalopathy, 121 test
  • Developmental and epileptic encephalopathy, 135 tests
  • Developmental and epileptic encephalopathy, 145 tests
  • Developmental and epileptic encephalopathy, 153 tests
  • Developmental and epileptic encephalopathy, 164 tests
  • Developmental and epileptic encephalopathy, 175 tests
  • Developmental and epileptic encephalopathy, 181 test
  • Developmental and epileptic encephalopathy, 193 tests
  • Developmental and epileptic encephalopathy, 25 tests
  • Developmental and epileptic encephalopathy, 211 test
  • Developmental and epileptic encephalopathy, 232 tests
  • Developmental and epileptic encephalopathy, 241 test
  • Developmental and epileptic encephalopathy, 256 tests
  • Developmental and epileptic encephalopathy, 262 tests
  • Developmental and epileptic encephalopathy, 275 tests
  • Developmental and epileptic encephalopathy, 284 tests
  • Developmental and epileptic encephalopathy, 32 tests
  • Developmental and epileptic encephalopathy, 301 test
  • Developmental and epileptic encephalopathy, 311 test
  • Developmental and epileptic encephalopathy, 324 tests
  • Developmental and epileptic encephalopathy, 332 tests
  • Developmental and epileptic encephalopathy, 342 tests
  • Developmental and epileptic encephalopathy, 353 tests
  • Developmental and epileptic encephalopathy, 366 tests
  • Developmental and epileptic encephalopathy, 372 tests
  • Developmental and epileptic encephalopathy, 394 tests
  • Developmental and epileptic encephalopathy, 46 tests
  • Developmental and epileptic encephalopathy, 413 tests
  • Developmental and epileptic encephalopathy, 426 tests
  • Developmental and epileptic encephalopathy, 434 tests
  • Developmental and epileptic encephalopathy, 442 tests
  • Developmental and epileptic encephalopathy, 453 tests
  • Developmental and epileptic encephalopathy, 462 tests
  • Developmental and epileptic encephalopathy, 472 tests
  • Developmental and epileptic encephalopathy, 481 test
  • Developmental and epileptic encephalopathy, 491 test
  • Developmental and epileptic encephalopathy, 54 tests
  • Developmental and epileptic encephalopathy, 506 tests
  • Developmental and epileptic encephalopathy, 512 tests
  • Developmental and epileptic encephalopathy, 522 tests
  • Developmental and epileptic encephalopathy, 533 tests
  • Developmental and epileptic encephalopathy, 543 tests
  • Developmental and epileptic encephalopathy, 554 tests
  • Developmental and epileptic encephalopathy, 562 tests
  • Developmental and epileptic encephalopathy, 583 tests
  • Developmental and epileptic encephalopathy, 593 tests
  • Developmental and epileptic encephalopathy, 624 tests
  • Developmental and epileptic encephalopathy, 631 test
  • Developmental and epileptic encephalopathy, 643 tests
  • Developmental and epileptic encephalopathy, 652 tests
  • Developmental and epileptic encephalopathy, 662 tests
  • Developmental and epileptic encephalopathy, 683 tests
  • Developmental and epileptic encephalopathy, 693 tests
  • Developmental and epileptic encephalopathy, 73 tests
  • Developmental and epileptic encephalopathy, 731 test
  • Developmental and epileptic encephalopathy, 743 tests
  • Developmental and epileptic encephalopathy, 752 tests
  • Developmental and epileptic encephalopathy, 774 tests
  • Developmental and epileptic encephalopathy, 783 tests
  • Developmental and epileptic encephalopathy, 87 tests
  • Developmental and epileptic encephalopathy, 804 tests
  • Developmental and epileptic encephalopathy, 815 tests
  • Developmental and epileptic encephalopathy, 825 tests
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects7 tests
  • Developmental and epileptic encephalopathy, 93 tests
  • Developmental cataract1 test
  • Developmental delay1 test
  • Developmental delay and seizures with or without movement abnormalities8 tests
  • Developmental delay with or without dysmorphic facies and autism4 tests
  • Developmental delay with variable intellectual impairment and behavioral abnormalities2 tests
  • Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1 test
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1 test
  • Developmental malformations-deafness-dystonia syndrome11 tests
  • Dextromethorphan response1 test
  • Diabetes insipidus, nephrogenic, autosomal4 tests
  • Diabetes insipidus, nephrogenic, X-linked4 tests
  • Diabetes mellitus type 17 tests
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, permanent neonatal 23 tests
  • Diabetes mellitus, permanent neonatal 35 tests
  • Diabetes mellitus, permanent neonatal 41 test
  • Diabetes mellitus, transient neonatal, 11 test
  • Diabetes mellitus, transient neonatal, 25 tests
  • Diabetes mellitus, transient neonatal, 33 tests
  • Diamond-Blackfan anemia 14 tests
  • Diamond-Blackfan anemia 104 tests
  • Diamond-Blackfan anemia 114 tests
  • Diamond-Blackfan anemia 123 tests
  • Diamond-Blackfan anemia 133 tests
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 161 test
  • Diamond-Blackfan anemia 171 test
  • Diamond-Blackfan anemia 181 test
  • Diamond-Blackfan anemia 191 test
  • Diamond-Blackfan anemia 201 test
  • Diamond-Blackfan anemia 34 tests
  • Diamond-Blackfan anemia 54 tests
  • Diamond-Blackfan anemia 65 tests
  • Diamond-Blackfan anemia 75 tests
  • Diamond-Blackfan anemia 84 tests
  • Diamond-Blackfan anemia 94 tests
  • Diaphanospondylodysostosis1 test
  • Diaphragmatic hernia 32 tests
  • Diaphyseal dysplasia7 tests
  • Diarrhea 10, protein-losing enteropathy type2 tests
  • Diarrhea 93 tests
  • Diastrophic dysplasia7 tests
  • DICER1-related tumor predisposition3 tests
  • Diencephalic-mesencephalic junction dysplasia syndrome 12 tests
  • Diffuse nonepidermolytic palmoplantar keratoderma2 tests
  • DiGeorge syndrome10 tests
  • Dihydropteridine reductase deficiency10 tests
  • Dilated cardiomyopathy 1A20 tests
  • Dilated cardiomyopathy 1AA8 tests
  • Dilated cardiomyopathy 1BB8 tests
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1D9 tests
  • Dilated cardiomyopathy 1DD8 tests
  • Dilated cardiomyopathy 1E8 tests
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF9 tests
  • Dilated cardiomyopathy 1G13 tests
  • Dilated cardiomyopathy 1GG11 tests
  • Dilated cardiomyopathy 1HH13 tests
  • Dilated cardiomyopathy 1I13 tests
  • Dilated cardiomyopathy 1II7 tests
  • Dilated cardiomyopathy 1J4 tests
  • Dilated cardiomyopathy 1KK3 tests
  • Dilated cardiomyopathy 1L10 tests
  • Dilated cardiomyopathy 1M6 tests
  • Dilated cardiomyopathy 1NN7 tests
  • Dilated cardiomyopathy 1O5 tests
  • Dilated cardiomyopathy 1P8 tests
  • Dilated cardiomyopathy 1R8 tests
  • Dilated cardiomyopathy 1S10 tests
  • Dilated cardiomyopathy 1U1 test
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W6 tests
  • Dilated cardiomyopathy 1X15 tests
  • Dilated cardiomyopathy 1Y7 tests
  • Dilated cardiomyopathy 1Z7 tests
  • Dilated cardiomyopathy 2A9 tests
  • Dilated cardiomyopathy 3B14 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome20 tests
  • Disorder due cytochrome p450 CYP1A21 test
  • Disorder due cytochrome p450 CYP2C19 variant1 test
  • Disorder due cytochrome p450 CYP2C9 variant1 test
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Disorder due cytochrome p450 CYP3A41 test
  • Disorder due cytochrome p450 CYP3A5 variant1 test
  • Disorder of amino acid metabolism1 test
  • Disorder of fatty acid metabolism8 tests
  • Disorder of organic acid metabolism3 tests
  • Disorder of the urea cycle metabolism5 tests
  • Distal myopathy with anterior tibial onset6 tests
  • Distal myopathy with posterior leg and anterior hand involvement11 tests
  • Distal myopathy, Tateyama type7 tests
  • Distal trisomy 6q1 test
  • Distichiasis-lymphedema syndrome2 tests
  • DK1-congenital disorder of glycosylation7 tests
  • DNA ligase IV deficiency9 tests
  • DOCK2 deficiency3 tests
  • Dominant beta-thalassemia3 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin6 tests
  • Donnai-Barrow syndrome8 tests
  • DOORS syndrome4 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency10 tests
  • Dowling-Degos disease 11 test
  • Dowling-Degos disease 22 tests
  • Dowling-Degos disease 45 tests
  • Doyne honeycomb retinal dystrophy2 tests
  • DPAGT1-congenital disorder of glycosylation6 tests
  • DPM3-congenital disorder of glycosylation7 tests
  • Drash syndrome12 tests
  • Duane retraction syndrome 3 with or without deafness2 tests
  • Duane-radial ray syndrome3 tests
  • Dubin-Johnson syndrome2 tests
  • Duchenne muscular dystrophy14 tests
  • Duloxetine response1 test
  • Dyggve-Melchior-Clausen syndrome1 test
  • DYRK1A-related intellectual disability syndrome5 tests
  • Dyschromatosis universalis hereditaria 31 test
  • Dyskeratosis congenita1 test
  • Dyskeratosis congenita, autosomal dominant 112 tests
  • Dyskeratosis congenita, autosomal dominant 212 tests
  • Dyskeratosis congenita, autosomal dominant 38 tests
  • Dyskeratosis congenita, autosomal dominant 66 tests
  • Dyskeratosis congenita, autosomal recessive 16 tests
  • Dyskeratosis congenita, autosomal recessive 26 tests
  • Dyskeratosis congenita, autosomal recessive 35 tests
  • Dyskeratosis congenita, autosomal recessive 513 tests
  • Dyskeratosis congenita, autosomal recessive 68 tests
  • Dyskeratosis congenita, X-linked13 tests
  • Dyskinesia with orofacial involvement, autosomal dominant2 tests
  • Dyslexia, susceptibility to, 13 tests
  • Dysmorphic features1 test
  • Dystonia 127 tests
  • Dystonia 163 tests
  • Dystonia 242 tests
  • Dystonia 252 tests
  • Dystonia 277 tests
  • Dystonia 28, childhood-onset3 tests
  • Dystonia 321 test
  • Dystonia 512 tests
  • Dystonia 911 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities4 tests
  • Early-onset autosomal dominant Alzheimer disease1 test
  • Early-onset generalized limb-onset dystonia3 tests
  • Early-onset myopathy with fatal cardiomyopathy13 tests
  • Early-onset Parkinson disease 203 tests
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2 tests
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2 tests
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome2 tests
  • EAST syndrome8 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1 test
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type1 test
  • Ectodermal dysplasia 13, hair/tooth type1 test
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2 tests
  • Ectodermal dysplasia 4, hair/nail type1 test
  • Ectodermal dysplasia 7, hair/nail type1 test
  • Ectodermal dysplasia and immunodeficiency 25 tests
  • Ectodermal dysplasia-syndactyly syndrome 12 tests
  • Ectopia lentis 1, isolated, autosomal dominant8 tests
  • Ectopia lentis 2, isolated, autosomal recessive2 tests
  • Ectopia lentis et pupillae2 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 37 tests
  • Eculizumab, poor response to3 tests
  • EDICT syndrome1 test
  • EEM syndrome4 tests
  • EGFR-related lung cancer1 test
  • Ehlers-Danlos syndrome progeroid type3 tests
  • Ehlers-Danlos syndrome, arthrochalasia type4 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 24 tests
  • Ehlers-Danlos syndrome, cardiac valvular type4 tests
  • Ehlers-Danlos syndrome, classic type, 16 tests
  • Ehlers-Danlos syndrome, classic type, 26 tests
  • Ehlers-Danlos syndrome, classic-like, 21 test
  • Ehlers-Danlos syndrome, dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 14 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 25 tests
  • Ehlers-Danlos syndrome, musculocontractural type 15 tests
  • Ehlers-Danlos syndrome, musculocontractural type 23 tests
  • Ehlers-Danlos syndrome, periodontal type 24 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 13 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 25 tests
  • Ehlers-Danlos syndrome, type 48 tests
  • Eichsfeld type congenital muscular dystrophy3 tests
  • Eiken syndrome3 tests
  • Elevated circulating creatine kinase concentration7 tests
  • Elliptocytosis 12 tests
  • Elliptocytosis 22 tests
  • Elliptocytosis 32 tests
  • Ellis-van Creveld syndrome9 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked3 tests
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant20 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive19 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant8 tests
  • Encephalocraniocutaneous lipomatosis6 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 22 tests
  • Encephalopathy due to GLUT1 deficiency11 tests
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 83 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 416 tests
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 15 tests
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities6 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 13 tests
  • Encephalopathy, progressive, with amyotrophy and optic atrophy4 tests
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome4 tests
  • Endemic goiter1 test
  • Endometrial carcinoma16 tests
  • Endometrium neoplasm5 tests
  • Enhanced S-cone syndrome2 tests
  • Enterokinase deficiency2 tests
  • Epidermal nevus11 tests
  • Epidermodysplasia verruciformis, susceptibility to, 12 tests
  • Epidermodysplasia verruciformis, susceptibility to, 22 tests
  • Epidermodysplasia verruciformis, susceptibility to, 32 tests
  • Epidermodysplasia verruciformis, susceptibility to, 44 tests
  • Epidermolysis bullosa1 test
  • Epidermolysis bullosa pruriginosa6 tests
  • Epidermolysis bullosa simplex 1A, generalized severe2 tests
  • Epidermolysis bullosa simplex 1C, localized4 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2 tests
  • Epidermolysis bullosa simplex 2A, generalized severe1 test
  • Epidermolysis bullosa simplex 2B, generalized intermediate1 test
  • Epidermolysis bullosa simplex 2C, localized1 test
  • Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive1 test
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency3 tests
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy4 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia4 tests
  • Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1 test
  • Epidermolysis bullosa simplex 7, with nephropathy and deafness5 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with nail dystrophy4 tests
  • Epidermolysis bullosa simplex, Koebner type2 tests
  • Epidermolysis bullosa simplex, Ogna type4 tests
  • Epidermolysis bullosa, junctional 2A, intermediate1 test
  • Epidermolysis bullosa, junctional 2B, severe1 test
  • Epidermolysis bullosa, junctional 3A, intermediate1 test
  • Epidermolysis bullosa, junctional 3B, severe1 test
  • Epidermolysis bullosa, junctional 4, intermediate1 test
  • Epidermolysis bullosa, junctional 5A, intermediate2 tests
  • Epidermolysis bullosa, junctional 6, with pyloric atresia2 tests
  • Epilepsy, childhood absence 22 tests
  • Epilepsy, childhood absence, susceptibility to, 54 tests
  • Epilepsy, childhood absence, susceptibility to, 62 tests
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial focal, with variable foci 12 tests
  • Epilepsy, familial focal, with variable foci 32 tests
  • Epilepsy, familial focal, with variable foci 44 tests
  • Epilepsy, familial temporal lobe, 13 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 113 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 1211 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 133 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 142 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 151 test
  • Epilepsy, idiopathic generalized, susceptibility to, 165 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 183 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 88 tests
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders2 tests
  • Epileptic encephalopathy, infantile or early childhood, 14 tests
  • Epileptic encephalopathy, infantile or early childhood, 22 tests
  • Epileptic encephalopathy, infantile or early childhood, 32 tests
  • Epiphyseal dysplasia, multiple, 25 tests
  • Epiphyseal dysplasia, multiple, 35 tests
  • Epiphyseal dysplasia, multiple, 65 tests
  • Epiphyseal dysplasia, multiple, 74 tests
  • Episodic ataxia type 14 tests
  • Episodic ataxia type 26 tests
  • Episodic ataxia type 64 tests
  • Episodic ataxia, type 93 tests
  • Episodic kinesigenic dyskinesia 14 tests
  • Epithelial basement membrane dystrophy1 test
  • Epithelial recurrent erosion dystrophy3 tests
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythrocytosis, familial, 63 tests
  • Erythrocytosis, familial, 73 tests
  • Erythrokeratodermia variabilis et progressiva 12 tests
  • Erythrokeratodermia variabilis et progressiva 21 test
  • Erythrokeratodermia variabilis et progressiva 310 tests
  • Erythrokeratodermia variabilis et progressiva 41 test
  • Erythrokeratodermia variabilis et progressiva 51 test
  • Erythrokeratodermia variabilis et progressiva 62 tests
  • Essential hypertension4 tests
  • Essential hypertension, genetic3 tests
  • Ethylmalonic encephalopathy10 tests
  • Euthyroid goiter9 tests
  • Exercise intolerance, riboflavin-responsive1 test
  • Exercise-induced hyperinsulinism4 tests
  • Exostoses, multiple, type 11 test
  • Exostoses, multiple, type 24 tests
  • Exudative vitreoretinopathy 16 tests
  • Exudative vitreoretinopathy 2, X-linked3 tests
  • Exudative vitreoretinopathy 46 tests
  • Exudative vitreoretinopathy 51 test
  • Exudative vitreoretinopathy 61 test
  • Exudative vitreoretinopathy 74 tests
  • Fabry disease20 tests
  • Fabry disease, cardiac variant1 test
  • Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1 test
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome7 tests
  • Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1 test
  • Facioscapulohumeral muscular dystrophy 24 tests
  • Facioscapulohumeral muscular dystrophy 4, digenic1 test
  • Factor H deficiency6 tests
  • Factor I deficiency6 tests
  • Factor V deficiency4 tests
  • Factor XII deficiency disease1 test
  • FADD-related immunodeficiency5 tests
  • Familial acute necrotizing encephalopathy5 tests
  • Familial adenomatous polyposis 115 tests
  • Familial adenomatous polyposis 211 tests
  • Familial adenomatous polyposis 34 tests
  • Familial adenomatous polyposis 42 tests
  • Familial amyloid nephropathy with urticaria AND deafness6 tests
  • Familial amyloid neuropathy10 tests
  • Familial aplasia of the vermis3 tests
  • Familial apolipoprotein C-II deficiency2 tests
  • Familial atrial myxoma7 tests
  • Familial atrioventricular septal defect1 test
  • Familial benign flecked retina1 test
  • Familial benign pemphigus1 test
  • Familial cancer of breast35 tests
  • Familial cold autoinflammatory syndrome 16 tests
  • Familial cold autoinflammatory syndrome 24 tests
  • Familial cold autoinflammatory syndrome 36 tests
  • Familial cold autoinflammatory syndrome 47 tests
  • Familial colorectal cancer12 tests
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome3 tests
  • Familial digital arthropathy-brachydactyly5 tests
  • Familial dysautonomia7 tests
  • Familial dysfibrinogenemia1 test
  • Familial encephalopathy with neuroserpin inclusion bodies1 test
  • Familial episodic pain syndrome with predominantly lower limb involvement2 tests
  • Familial expansile osteolysis5 tests
  • Familial gestational hyperthyroidism1 test
  • Familial hemophagocytic lymphohistiocytosis 28 tests
  • Familial hemophagocytic lymphohistiocytosis 36 tests
  • Familial hemophagocytic lymphohistiocytosis 46 tests
  • Familial hemophagocytic lymphohistiocytosis 512 tests
  • Familial hyperaldosteronism type II3 tests
  • Familial hyperaldosteronism type III1 test
  • Familial hypercholesterolemia1 test
  • Familial hyperthyroidism due to mutations in TSH receptor1 test
  • Familial hypobetalipoproteinemia 16 tests
  • Familial hypobetalipoproteinemia 21 test
  • Familial hypocalciuric hypercalcemia 18 tests
  • Familial hypocalciuric hypercalcemia 23 tests
  • Familial hypocalciuric hypercalcemia 31 test
  • Familial hypokalemia-hypomagnesemia6 tests
  • Familial idiopathic hypercalciuria2 tests
  • Familial infantile bilateral striatal necrosis1 test
  • Familial infantile myasthenia5 tests
  • Familial infantile myoclonic epilepsy4 tests
  • Familial isolated congenital asplenia2 tests
  • Familial isolated deficiency of vitamin E5 tests
  • Familial juvenile hyperuricemic nephropathy type 16 tests
  • Familial juvenile hyperuricemic nephropathy type 25 tests
  • Familial Mediterranean fever10 tests
  • Familial Mediterranean fever, autosomal dominant10 tests
  • Familial medullary thyroid carcinoma11 tests
  • Familial melanoma4 tests
  • Familial meningioma19 tests
  • Familial multiple polyposis syndrome9 tests
  • Familial ovarian carcinoma6 tests
  • Familial pancreatic carcinoma4 tests
  • Familial partial lipodystrophy, Dunnigan type20 tests
  • Familial porphyria cutanea tarda6 tests
  • Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome1 test
  • Familial prostate carcinoma1 test
  • Familial pseudohyperkalemia1 test
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial scaphocephaly syndrome, McGillivray type3 tests
  • Familial spontaneous pneumothorax5 tests
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness8 tests
  • Familial temporal lobe epilepsy 73 tests
  • Familial thyroid dyshormonogenesis 11 test
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type7 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets6 tests
  • Fanconi anemia complementation group A6 tests
  • Fanconi anemia complementation group B5 tests
  • Fanconi anemia complementation group C6 tests
  • Fanconi anemia complementation group D110 tests
  • Fanconi anemia complementation group D24 tests
  • Fanconi anemia complementation group E5 tests
  • Fanconi anemia complementation group F4 tests
  • Fanconi anemia complementation group G4 tests
  • Fanconi anemia complementation group I5 tests
  • Fanconi anemia complementation group J8 tests
  • Fanconi anemia complementation group L5 tests
  • Fanconi anemia complementation group N12 tests
  • Fanconi anemia complementation group O7 tests
  • Fanconi anemia complementation group P5 tests
  • Fanconi anemia complementation group Q3 tests
  • Fanconi anemia complementation group R1 test
  • Fanconi anemia complementation group T3 tests
  • Fanconi anemia complementation group U1 test
  • Fanconi anemia complementation group V2 tests
  • Fanconi anemia, complementation group S8 tests
  • Fanconi anemia, complementation group W2 tests
  • Fanconi renotubular syndrome 114 tests
  • Fanconi renotubular syndrome 27 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
  • Fanconi renotubular syndrome 52 tests
  • Fanconi-Bickel syndrome7 tests
  • Farber lipogranulomatosis12 tests
  • Fatal familial insomnia2 tests
  • Fatal infantile hypertonic myofibrillar myopathy7 tests
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 36 tests
  • Fatty acyl-CoA reductase 1 deficiency3 tests
  • Febrile seizures, familial, 44 tests
  • Febrile seizures, familial, 81 test
  • Feingold syndrome type 12 tests
  • Fetal akinesia deformation sequence 13 tests
  • Fetal akinesia deformation sequence 25 tests
  • Fetal akinesia deformation sequence 33 tests
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies1 test
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome7 tests
  • Fetal hemoglobin quantitative trait locus 63 tests
  • FG syndrome1 test
  • FG syndrome 16 tests
  • FG syndrome 29 tests
  • FG syndrome 44 tests
  • Fibrochondrogenesis 15 tests
  • Fibrochondrogenesis 26 tests
  • Fibromatosis, gingival, 16 tests
  • Fibromuscular dysplasia, multifocal3 tests
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement3 tests
  • Fibrous dysplasia of jaw3 tests
  • Filippi syndrome2 tests
  • Finnish congenital nephrotic syndrome6 tests
  • Fish-eye disease4 tests
  • Fleck corneal dystrophy1 test
  • Floating-Harbor syndrome4 tests
  • Fluoxetine response1 test
  • Focal dermal hypoplasia3 tests
  • Focal facial dermal dysplasia type III1 test
  • Focal segmental glomerulosclerosis 13 tests
  • Focal segmental glomerulosclerosis 23 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to3 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to3 tests
  • Focal segmental glomerulosclerosis 56 tests
  • Focal segmental glomerulosclerosis 63 tests
  • Focal segmental glomerulosclerosis 77 tests
  • Focal segmental glomerulosclerosis 84 tests
  • Focal segmental glomerulosclerosis 94 tests
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome1 test
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome4 tests
  • Foveal hypoplasia 16 tests
  • Fowler syndrome1 test
  • Fragile X syndrome5 tests
  • Fragile X-associated tremor/ataxia syndrome4 tests
  • Frank-Ter Haar syndrome2 tests
  • Fraser syndrome 16 tests
  • Fraser syndrome 26 tests
  • Fraser syndrome 35 tests
  • Frasier syndrome12 tests
  • Freeman-Sheldon syndrome3 tests
  • Frontometaphyseal dysplasia 19 tests
  • Frontometaphyseal dysplasia 21 test
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome2 tests
  • Frontonasal dysplasia with alopecia and genital anomaly1 test
  • Frontorhiny1 test
  • Frontotemporal dementia4 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 28 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 311 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 44 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 66 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 73 tests
  • Fructose-biphosphatase deficiency5 tests
  • Fucosidosis9 tests
  • Fuhrmann syndrome1 test
  • Fumarase deficiency14 tests
  • G6PD deficiency1 test
  • Galactosemia 42 tests
  • Galactosylceramide beta-galactosidase deficiency14 tests
  • Gallbladder disease 45 tests
  • Galloway-Mowat syndrome 14 tests
  • Galloway-Mowat syndrome 102 tests
  • Galloway-Mowat syndrome 2, X-linked3 tests
  • Galloway-Mowat syndrome 33 tests
  • Galloway-Mowat syndrome 43 tests
  • Galloway-Mowat syndrome 52 tests
  • Galloway-Mowat syndrome 62 tests
  • Galloway-Mowat syndrome 73 tests
  • Galloway-Mowat syndrome 82 tests
  • Gamma-aminobutyric acid transaminase deficiency6 tests
  • Gamma-glutamylcysteine synthetase deficiency4 tests
  • GAPO syndrome1 test
  • Gardner syndrome8 tests
  • Gastric adenocarcinoma and proximal polyposis of the stomach6 tests
  • Gastric cancer9 tests
  • Gastrointestinal stromal tumor15 tests
  • Gaucher disease1 test
  • Gaucher disease due to saposin C deficiency6 tests
  • Gaucher disease perinatal lethal5 tests
  • Gaucher disease type I5 tests
  • Gaucher disease type II5 tests
  • Gaucher disease type III5 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome5 tests
  • GCGR-related hyperglucagonemia1 test
  • Geleophysic dysplasia 28 tests
  • Geleophysic dysplasia 34 tests
  • Generalized dominant dystrophic epidermolysis bullosa6 tests
  • Generalized epilepsy with febrile seizures plus, type 12 tests
  • Generalized epilepsy with febrile seizures plus, type 101 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 syndrome5 tests
  • Generalized juvenile polyposis/juvenile polyposis coli10 tests
  • Generalized pustular psoriasis3 tests
  • Genitopatellar syndrome6 tests
  • Genitourinary and/or brain malformation syndrome1 test
  • Germ cell tumor of testis14 tests
  • Geroderma osteodysplastica6 tests
  • Gerstmann-Straussler-Scheinker syndrome2 tests
  • Ghosal hematodiaphyseal dysplasia1 test
  • Giant axonal neuropathy 12 tests
  • Gilbert syndrome2 tests
  • Gillespie syndrome5 tests
  • Gillessen-Kaesbach-Nishimura syndrome5 tests
  • Glanzmann thrombasthenia 12 tests
  • Glanzmann thrombasthenia 21 test
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 3, primary congenital, D4 tests
  • Glaucoma 3, primary congenital, E1 test
  • Glaucoma 3, primary infantile, B6 tests
  • Glaucoma 3A3 tests
  • Glaucoma, normal tension, susceptibility to8 tests
  • Glaucoma, primary closed-angle4 tests
  • Glioma1 test
  • Glioma susceptibility 112 tests
  • Glioma susceptibility 213 tests
  • Glioma susceptibility 310 tests
  • Glioma susceptibility 95 tests
  • Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome8 tests
  • Glomerulopathy with fibronectin deposits 24 tests
  • Glucocorticoid deficiency 42 tests
  • Glucocorticoid deficiency with achalasia3 tests
  • Glucocorticoid resistance1 test
  • Glucocorticoid-remediable aldosteronism3 tests
  • Glucose-6-phosphate transport defect16 tests
  • Glutamate formiminotransferase deficiency3 tests
  • Glutaric aciduria, type 19 tests
  • Glutaryl-CoA oxidase deficiency2 tests
  • Glutathione synthetase deficiency with 5-oxoprolinuria6 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria8 tests
  • Glycine N-methyltransferase deficiency4 tests
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency6 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency5 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency4 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency6 tests
  • Glycogen storage disease IXa12 tests
  • Glycogen storage disease IXb5 tests
  • Glycogen storage disease IXc3 tests
  • Glycogen storage disease IXd4 tests
  • Glycogen storage disease type III8 tests
  • Glycogen storage disease type X4 tests
  • Glycogen storage disease XV5 tests
  • Glycogen storage disease, type II20 tests
  • Glycogen storage disease, type IV8 tests
  • Glycogen storage disease, type V3 tests
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII7 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
  • Glycosylphosphatidylinositol biosynthesis defect 153 tests
  • Glycosylphosphatidylinositol biosynthesis defect 162 tests
  • Glycosylphosphatidylinositol biosynthesis defect 213 tests
  • GM1 gangliosidosis type 211 tests
  • GM1 gangliosidosis type 311 tests
  • GM3 synthase deficiency6 tests
  • Gnathodiaphyseal dysplasia7 tests
  • GNE myopathy8 tests
  • GNPTG-mucolipidosis5 tests
  • Gonadotropin-independent familial sexual precocity1 test
  • Gordon syndrome1 test
  • Gorlin syndrome10 tests
  • GRACILE syndrome7 tests
  • Graft-versus-host disease, susceptibility to5 tests
  • Granulocytopenia with immunoglobulin abnormality3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative7 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 27 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 36 tests
  • Granulomatous disease, chronic, X-linked7 tests
  • Grebe syndrome3 tests
  • Greenberg dysplasia1 test
  • Greig cephalopolysyndactyly syndrome5 tests
  • Griscelli syndrome type 12 tests
  • Griscelli syndrome type 28 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 syndrome1 test
  • Growth delay due to insulin-like growth factor I resistance1 test
  • Growth delay due to insulin-like growth factor type 1 deficiency1 test
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant4 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive4 tests
  • GTP cyclohydrolase I deficiency8 tests
  • GTP cyclohydrolase I deficiency with hyperphenylalaninemia4 tests
  • Guillain-Barre syndrome, familial4 tests
  • Guttmacher syndrome4 tests
  • H syndrome6 tests
  • Haim-Munk syndrome6 tests
  • Hair morphology 11 test
  • Hajdu-Cheney syndrome11 tests
  • Hamartoma of hypothalamus3 tests
  • Hand-foot-genital syndrome4 tests
  • Hao-Fountain syndrome2 tests
  • Harderoporphyria4 tests
  • Hartsfield-Bixler-Demyer syndrome6 tests
  • Hashimoto thyroiditis8 tests
  • Hawkinsinuria3 tests
  • Hb SS disease4 tests
  • Hearing loss, autosomal dominant 34, with or without inflammation6 tests
  • Hearing loss, autosomal dominant 375 tests
  • Hearing loss, autosomal dominant 715 tests
  • Hearing loss, autosomal dominant 721 test
  • Hearing loss, autosomal dominant 754 tests
  • Hearing loss, autosomal dominant 782 tests
  • Hearing loss, autosomal dominant 802 tests
  • Hearing loss, autosomal dominant 811 test
  • Hearing loss, autosomal recessive 1061 test
  • Hearing loss, autosomal recessive 1071 test
  • Hearing loss, autosomal recessive 1081 test
  • Hearing loss, autosomal recessive 1101 test
  • Hearing loss, autosomal recessive 1131 test
  • Hearing loss, autosomal recessive 573 tests
  • Hearing loss, autosomal recessive 943 tests
  • Hearing loss, autosomal recessive 991 test
  • Hearing loss, X-linked 110 tests
  • Hearing loss, X-linked 43 tests
  • Hearing loss, X-linked 64 tests
  • Heart defect - tongue hamartoma - polysyndactyly syndrome6 tests
  • Heart, malformation of1 test
  • Heart-hand syndrome, Slovenian type20 tests
  • Heimler syndrome 113 tests
  • Heimler syndrome 216 tests
  • Heinz body anemia3 tests
  • Helicobacter pylori infection, susceptibility to2 tests
  • Helicoid peripapillary chorioretinal degeneration1 test
  • Hematologic neoplasm1 test
  • Heme oxygenase 1 deficiency4 tests
  • Hemochromatosis type 16 tests
  • Hemochromatosis type 2A4 tests
  • Hemochromatosis type 2B4 tests
  • Hemochromatosis type 35 tests
  • Hemochromatosis type 43 tests
  • Hemochromatosis type 52 tests
  • Hemoglobin H disease3 tests
  • Hemoglobin, high altitude adaptation1 test
  • Hemolytic anemia due to adenylate kinase deficiency2 tests
  • Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
  • Hemolytic anemia due to glutathione reductase deficiency2 tests
  • Hemolytic anemia due to hexokinase deficiency5 tests
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency4 tests
  • Hemolytic uremic syndrome, atypical, susceptibility to, 16 tests
  • Hemorrhage, intracerebral, susceptibility to17 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 15 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 28 tests
  • Hepatic adenomas, familial7 tests
  • Hepatic methionine adenosyltransferase deficiency6 tests
  • Hepatic veno-occlusive disease-immunodeficiency syndrome3 tests
  • Hepatitis B virus, susceptibility to5 tests
  • Hepatitis C virus, susceptibility to3 tests
  • Hepatitis, fulminant viral, susceptibility to2 tests
  • Hepatocellular carcinoma21 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 13 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 14 tests
  • Hereditary angioedema type 31 test
  • Hereditary antithrombin deficiency5 tests
  • Hereditary breast ovarian cancer syndrome10 tests
  • Hereditary cancer-predisposing syndrome4 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary coproporphyria5 tests
  • Hereditary cryohydrocytosis with reduced stomatin11 tests
  • Hereditary diffuse gastric adenocarcinoma21 tests
  • Hereditary diffuse leukoencephalopathy with spheroids3 tests
  • Hereditary disease1 test
  • Hereditary factor IX deficiency disease6 tests
  • Hereditary fructosuria6 tests
  • Hereditary hearing loss and deafness2 tests
  • Hereditary hyperferritinemia with congenital cataracts5 tests
  • Hereditary insensitivity to pain with anhidrosis5 tests
  • Hereditary leiomyomatosis and renal cell cancer11 tests
  • Hereditary liability to pressure palsies4 tests
  • Hereditary motor and sensory neuropathy with optic atrophy4 tests
  • Hereditary motor and sensory neuropathy, Okinawa type6 tests
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency5 tests
  • Hereditary pancreatitis10 tests
  • Hereditary persistence of fetal hemoglobin3 tests
  • Hereditary pheochromocytoma-paraganglioma7 tests
  • Hereditary sensory and autonomic neuropathy type 63 tests
  • Hereditary sensory and autonomic neuropathy type 72 tests
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
  • Hereditary sensory neuropathy-deafness-dementia syndrome3 tests
  • Hereditary spastic paraplegia 106 tests
  • Hereditary spastic paraplegia 118 tests
  • Hereditary spastic paraplegia 122 tests
  • Hereditary spastic paraplegia 134 tests
  • Hereditary spastic paraplegia 155 tests
  • Hereditary spastic paraplegia 177 tests
  • Hereditary spastic paraplegia 182 tests
  • Hereditary spastic paraplegia 26 tests
  • Hereditary spastic paraplegia 232 tests
  • Hereditary spastic paraplegia 266 tests
  • Hereditary spastic paraplegia 283 tests
  • Hereditary spastic paraplegia 309 tests
  • Hereditary spastic paraplegia 315 tests
  • Hereditary spastic paraplegia 357 tests
  • Hereditary spastic paraplegia 393 tests
  • Hereditary spastic paraplegia 3A4 tests
  • Hereditary spastic paraplegia 45 tests
  • Hereditary spastic paraplegia 424 tests
  • Hereditary spastic paraplegia 437 tests
  • Hereditary spastic paraplegia 442 tests
  • Hereditary spastic paraplegia 453 tests
  • Hereditary spastic paraplegia 462 tests
  • Hereditary spastic paraplegia 473 tests
  • Hereditary spastic paraplegia 483 tests
  • Hereditary spastic paraplegia 493 tests
  • Hereditary spastic paraplegia 505 tests
  • Hereditary spastic paraplegia 513 tests
  • Hereditary spastic paraplegia 531 test
  • Hereditary spastic paraplegia 543 tests
  • Hereditary spastic paraplegia 552 tests
  • Hereditary spastic paraplegia 562 tests
  • Hereditary spastic paraplegia 575 tests
  • Hereditary spastic paraplegia 5A7 tests
  • Hereditary spastic paraplegia 62 tests
  • Hereditary spastic paraplegia 612 tests
  • Hereditary spastic paraplegia 622 tests
  • Hereditary spastic paraplegia 633 tests
  • Hereditary spastic paraplegia 643 tests
  • Hereditary spastic paraplegia 74 tests
  • Hereditary spastic paraplegia 722 tests
  • Hereditary spastic paraplegia 732 tests
  • Hereditary spastic paraplegia 747 tests
  • Hereditary spastic paraplegia 753 tests
  • Hereditary spastic paraplegia 775 tests
  • Hereditary spastic paraplegia 82 tests
  • Hereditary spastic paraplegia 9A7 tests
  • Hereditary spherocytosis type 12 tests
  • Hereditary spherocytosis type 22 tests
  • Hereditary spherocytosis type 32 tests
  • Hereditary spherocytosis type 46 tests
  • Hereditary spherocytosis type 52 tests
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX16 tests
  • Hereditary xanthinuria type 14 tests
  • Hermansky-Pudlak syndrome 19 tests
  • Hermansky-Pudlak syndrome 106 tests
  • Hermansky-Pudlak syndrome 29 tests
  • Hermansky-Pudlak syndrome 38 tests
  • Hermansky-Pudlak syndrome 46 tests
  • Hermansky-Pudlak syndrome 56 tests
  • Hermansky-Pudlak syndrome 66 tests
  • Hermansky-Pudlak syndrome 75 tests
  • Hermansky-Pudlak syndrome 86 tests
  • Hermansky-Pudlak syndrome 98 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-linked2 tests
  • Heterotaxy, visceral, 4, autosomal2 tests
  • Heterotaxy, visceral, 5, autosomal2 tests
  • Heterotaxy, visceral, 6, autosomal1 test
  • Heterotaxy, visceral, 8, autosomal1 test
  • Heterotopia, periventricular, X-linked dominant9 tests
  • Heyn-Sproul-Jackson syndrome4 tests
  • Hiatt-Neu-Cooper neurodevelopmental syndrome1 test
  • Hidrotic ectodermal dysplasia syndrome4 tests
  • High myopia-sensorineural deafness syndrome1 test
  • Hirschsprung disease, susceptibility to, 16 tests
  • Hirschsprung disease, susceptibility to, 23 tests
  • Hirschsprung disease, susceptibility to, 42 tests
  • Histiocytic medullary reticulosis8 tests
  • HNSHA due to aldolase A deficiency6 tests
  • Hogue-Janssens syndrome 13 tests
  • Holocarboxylase synthetase deficiency11 tests
  • Holoprosencephaly 112 tests
  • Holoprosencephaly 12 with or without pancreatic agenesis2 tests
  • Holoprosencephaly 13, X-linked4 tests
  • Holoprosencephaly 22 tests
  • Holoprosencephaly 34 tests
  • Holoprosencephaly 43 tests
  • Holoprosencephaly 55 tests
  • Holoprosencephaly 75 tests
  • Holoprosencephaly 95 tests
  • Holoprosencephaly sequence2 tests
  • Holt-Oram syndrome4 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency10 tests
  • Houge-Janssens syndrome 23 tests
  • Houge-Janssens syndrome 31 test
  • HSD10 mitochondrial disease9 tests
  • Humerofemoral hypoplasia with radiotibial ray deficiency1 test
  • Huntington disease-like 12 tests
  • Huppke-Brendel syndrome4 tests
  • Hurler syndrome11 tests
  • Hurthle cell carcinoma of thyroid1 test
  • Hutchinson-Gilford syndrome20 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 14 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 22 tests
  • Hydrolethalus syndrome 11 test
  • Hydrolethalus syndrome 28 tests
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome5 tests
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant11 tests
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive7 tests
  • Hyper-IgE recurrent infection syndrome 4, autosomal recessive4 tests
  • Hyper-IgE recurrent infection syndrome 5, autosomal recessive4 tests
  • Hyper-IgM syndrome type 111 tests
  • Hyper-IgM syndrome type 26 tests
  • Hyper-IgM syndrome type 311 tests
  • Hyper-IgM syndrome type 54 tests
  • Hyperaldosteronism, familial, type IV2 tests
  • Hyperalphalipoproteinemia 11 test
  • Hyperammonemia, type III10 tests
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency7 tests
  • Hyperbiliverdinemia1 test
  • Hypercalcemia, infantile, 14 tests
  • Hypercalcemia, infantile, 27 tests
  • Hypercholanemia, familial 12 tests
  • Hypercholesterolemia, autosomal dominant, 38 tests
  • Hypercholesterolemia, autosomal dominant, type B8 tests
  • Hypercholesterolemia, familial, 111 tests
  • Hypercholesterolemia, familial, 48 tests
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency3 tests
  • Hyperekplexia 110 tests
  • Hyperekplexia 26 tests
  • Hyperekplexia 36 tests
  • Hyperekplexia 46 tests
  • Hyperglycinuria7 tests
  • Hyperimmunoglobulin D with periodic fever12 tests
  • Hyperinsulinemic hypoglycemia, familial, 15 tests
  • Hyperinsulinemic hypoglycemia, familial, 23 tests
  • Hyperinsulinemic hypoglycemia, familial, 49 tests
  • Hyperinsulinism due to glucokinase deficiency2 tests
  • Hyperinsulinism due to INSR deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome4 tests
  • Hyperkalemic periodic paralysis8 tests
  • Hyperlipidemia, familial combined, LPL related2 tests
  • Hyperlipoproteinemia, type 1D1 test
  • Hyperlipoproteinemia, type I2 tests
  • Hyperlysinemia1 test
  • Hypermanganesemia with dystonia 26 tests
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis7 tests
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase7 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome11 tests
  • Hyperostosis cranialis interna6 tests
  • Hyperparathyroidism2 tests
  • Hyperparathyroidism 17 tests
  • Hyperparathyroidism 2 with jaw tumors4 tests
  • Hyperparathyroidism 42 tests
  • Hyperphenylalaninemia due to DNAJC12 deficiency7 tests
  • Hyperphosphatasemia tarda1 test
  • Hyperphosphatasemia with bone disease2 tests
  • Hyperphosphatasia with intellectual disability syndrome 15 tests
  • Hyperphosphatasia with intellectual disability syndrome 23 tests
  • Hyperphosphatasia with intellectual disability syndrome 32 tests
  • Hyperphosphatasia with intellectual disability syndrome 43 tests
  • Hyperphosphatasia with intellectual disability syndrome 53 tests
  • Hyperphosphatasia with intellectual disability syndrome 62 tests
  • Hyperpigmentation with or without hypopigmentation, familial progressive2 tests
  • Hyperproinsulinemia1 test
  • Hyperprolinemia1 test
  • Hyperprolinemia type 24 tests
  • Hyperthyroxinemia, dystransthyretinemic9 tests
  • Hyperthyroxinemia, familial dysalbuminemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type5 tests
  • Hypertriglyceridemia 11 test
  • Hypertriglyceridemia 21 test
  • Hypertrophic cardiomyopathy 114 tests
  • Hypertrophic cardiomyopathy 109 tests
  • Hypertrophic cardiomyopathy 118 tests
  • Hypertrophic cardiomyopathy 126 tests
  • Hypertrophic cardiomyopathy 137 tests
  • Hypertrophic cardiomyopathy 141 test
  • Hypertrophic cardiomyopathy 156 tests
  • Hypertrophic cardiomyopathy 188 tests
  • Hypertrophic cardiomyopathy 29 tests
  • Hypertrophic cardiomyopathy 2511 tests
  • Hypertrophic cardiomyopathy 2611 tests
  • Hypertrophic cardiomyopathy 37 tests
  • Hypertrophic cardiomyopathy 47 tests
  • Hypertrophic cardiomyopathy 68 tests
  • Hypertrophic cardiomyopathy 79 tests
  • Hypertrophic cardiomyopathy 84 tests
  • Hypertrophic cardiomyopathy 913 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome4 tests
  • Hyperuricemic nephropathy, familial juvenile type 46 tests
  • Hypervalinemia and hyperleucine-isoleucinemia3 tests
  • Hypoalphalipoproteinemia, primary, 12 tests
  • Hypoalphalipoproteinemia, primary, 23 tests
  • Hypoalphalipoproteinemia, primary, 2, intermediate1 test
  • Hypochondroplasia3 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 12 with or without anosmia1 test
  • 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 anosmia7 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 anosmia2 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia12 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome3 tests
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy3 tests
  • Hypokalemic periodic paralysis, type 113 tests
  • Hypokalemic periodic paralysis, type 28 tests
  • Hypomagnesemia, seizures, and intellectual disability 15 tests
  • Hypomagnesemia, seizures, and intellectual disability 23 tests
  • Hypomyelinating leukodystrophy 101 test
  • Hypomyelinating leukodystrophy 113 tests
  • Hypomyelinating leukodystrophy 122 tests
  • Hypomyelinating leukodystrophy 131 test
  • Hypomyelinating leukodystrophy 22 tests
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 44 tests
  • Hypomyelinating leukodystrophy 64 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2 tests
  • Hypomyelination and Congenital Cataract3 tests
  • Hypoparathyroidism, deafness, renal disease syndrome5 tests
  • Hypoparathyroidism, familial isolated 11 test
  • Hypoparathyroidism, familial isolated, 22 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome4 tests
  • Hypophosphatasia1 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 17 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 21 test
  • Hypophosphatemic rickets, autosomal recessive, 13 tests
  • Hypophosphatemic rickets, autosomal recessive, 25 tests
  • Hypophosphatemic rickets, X-linked recessive7 tests
  • Hypopigmentation, organomegaly, and delayed myelination and development7 tests
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome4 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic left heart syndrome 111 tests
  • Hypoplastic left heart syndrome 26 tests
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome2 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration10 tests
  • Hypoproteinemia, hypercatabolic4 tests
  • Hypospadias 1, X-linked2 tests
  • Hypospadias 2, X-linked1 test
  • Hypothyroidism due to TSH receptor mutations1 test
  • Hypothyroidism, congenital, nongoitrous, 55 tests
  • Hypotonia with lactic acidemia and hyperammonemia2 tests
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome2 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 34 tests
  • Hypotrichosis 111 test
  • Hypotrichosis 121 test
  • Hypotrichosis 131 test
  • Hypotrichosis 141 test
  • Hypotrichosis 22 tests
  • Hypotrichosis 31 test
  • Hypotrichosis 61 test
  • Hypotrichosis 71 test
  • Hypotrichosis 81 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome2 tests
  • Hypouricemia, renal, 23 tests
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis hystrix of Curth-Macklin2 tests
  • Ichthyosis prematurity syndrome3 tests
  • Ichthyosis, congenital, autosomal recessive 131 test
  • Ichthyosis, congenital, autosomal recessive 141 test
  • Ichthyosis, hystrix-like, with hearing loss6 tests
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features2 tests
  • Idiopathic basal ganglia calcification 13 tests
  • Idiopathic CD4 lymphocytopenia1 test
  • Idiopathic hypereosinophilic syndrome3 tests
  • IFAP syndrome 1, with or without BRESHECK syndrome4 tests
  • IgE responsiveness, atopic5 tests
  • IL21-related infantile inflammatory bowel disease7 tests
  • IMAGe syndrome7 tests
  • Imerslund-Grasbeck syndrome type 17 tests
  • Imerslund-Grasbeck syndrome type 28 tests
  • Iminoglycinuria7 tests
  • Immunodeficiency 1044 tests
  • Immunodeficiency 1051 test
  • Immunodeficiency 11b with atopic dermatitis5 tests
  • Immunodeficiency 149 tests
  • Immunodeficiency 15a4 tests
  • Immunodeficiency 184 tests
  • Immunodeficiency 194 tests
  • Immunodeficiency 2312 tests
  • Immunodeficiency 253 tests
  • Immunodeficiency 27A2 tests
  • Immunodeficiency 282 tests
  • Immunodeficiency 31B6 tests
  • Immunodeficiency 32B2 tests
  • Immunodeficiency 353 tests
  • Immunodeficiency 3611 tests
  • Immunodeficiency 373 tests
  • Immunodeficiency 392 tests
  • Immunodeficiency 452 tests
  • Immunodeficiency 478 tests
  • Immunodeficiency 494 tests
  • Immunodeficiency 512 tests
  • Immunodeficiency 533 tests
  • Immunodeficiency 575 tests
  • Immunodeficiency 605 tests
  • Immunodeficiency 613 tests
  • Immunodeficiency 623 tests
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity7 tests
  • Immunodeficiency 644 tests
  • Immunodeficiency 65, susceptibility to viral infections2 tests
  • Immunodeficiency 672 tests
  • Immunodeficiency 72 with autoinflammation2 tests
  • Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia7 tests
  • Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia7 tests
  • Immunodeficiency 74, COVID-19-related, X-linked2 tests
  • Immunodeficiency 751 test
  • Immunodeficiency 766 tests
  • Immunodeficiency 78 with autoimmunity and developmental delay4 tests
  • Immunodeficiency 83, susceptibility to viral infections2 tests
  • Immunodeficiency 951 test
  • Immunodeficiency due to CD25 deficiency7 tests
  • Immunodeficiency, common variable, 17 tests
  • Immunodeficiency, common variable, 104 tests
  • Immunodeficiency, common variable, 124 tests
  • Immunodeficiency, common variable, 145 tests
  • Immunodeficiency, common variable, 210 tests
  • Immunodeficiency, common variable, 35 tests
  • Immunodeficiency, common variable, 44 tests
  • Immunodeficiency, common variable, 53 tests
  • Immunodeficiency, common variable, 65 tests
  • Immunodeficiency, common variable, 74 tests
  • Immunodeficiency, developmental delay, and hypohomocysteinemia4 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 15 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 25 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 34 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 44 tests
  • Immunoglobulin A deficiency 25 tests
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis5 tests
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities6 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 25 tests
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 15 tests
  • Infantile bilateral striatal necrosis1 test
  • Infantile cerebellar-retinal degeneration4 tests
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly3 tests
  • Infantile convulsions and choreoathetosis4 tests
  • Infantile cortical hyperostosis4 tests
  • Infantile GM1 gangliosidosis12 tests
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency2 tests
  • Infantile hypophosphatasia7 tests
  • Infantile liver failure syndrome 26 tests
  • Infantile liver failure syndrome 31 test
  • Infantile nephronophthisis9 tests
  • Infantile nephropathic cystinosis1 test
  • Infantile neuroaxonal dystrophy10 tests
  • Infantile onset spinocerebellar ataxia8 tests
  • Infantile-onset ascending hereditary spastic paralysis4 tests
  • Infantile-onset generalized dyskinesia with orofacial involvement1 test
  • Infantile-onset periodic fever-panniculitis-dermatosis syndrome3 tests
  • Infantile-onset X-linked spinal muscular atrophy2 tests
  • Inflammatory bowel disease 15 tests
  • Inflammatory bowel disease 172 tests
  • Inflammatory bowel disease 255 tests
  • Inflammatory bowel disease 285 tests
  • Inflammatory bowel disease 305 tests
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy7 tests
  • Inflammatory skin and bowel disease, neonatal, 15 tests
  • Inflammatory skin and bowel disease, neonatal, 23 tests
  • Inherited Creutzfeldt-Jakob disease2 tests
  • Inherited obesity1 test
  • Inherited prion disease1 test
  • Inosine triphosphatase deficiency3 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome8 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder 60 with seizures1 test
  • Intellectual developmental disorder with autism and macrocephaly3 tests
  • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures2 tests
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1 test
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies4 tests
  • Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1 test
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures1 test
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
  • Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities4 tests
  • Intellectual developmental disorder, autosomal recessive 742 tests
  • Intellectual developmental disorder, autosomal recessive 771 test
  • Intellectual developmental disorder, X-linked 1082 tests
  • Intellectual disability1 test
  • Intellectual disability, autosomal dominant 13 tests
  • Intellectual disability, autosomal dominant 136 tests
  • Intellectual disability, autosomal dominant 144 tests
  • Intellectual disability, autosomal dominant 157 tests
  • Intellectual disability, autosomal dominant 168 tests
  • Intellectual disability, autosomal dominant 204 tests
  • Intellectual disability, autosomal dominant 223 tests
  • Intellectual disability, autosomal dominant 243 tests
  • Intellectual disability, autosomal dominant 273 tests
  • Intellectual disability, autosomal dominant 294 tests
  • Intellectual disability, autosomal dominant 302 tests
  • Intellectual disability, autosomal dominant 382 tests
  • Intellectual disability, autosomal dominant 413 tests
  • Intellectual disability, autosomal dominant 422 tests
  • Intellectual disability, autosomal dominant 432 tests
  • Intellectual disability, autosomal dominant 461 test
  • Intellectual disability, autosomal dominant 472 tests
  • Intellectual disability, autosomal dominant 53 tests
  • Intellectual disability, autosomal dominant 501 test
  • Intellectual disability, autosomal dominant 542 tests
  • Intellectual disability, autosomal dominant 55, with seizures4 tests
  • Intellectual disability, autosomal dominant 563 tests
  • Intellectual disability, autosomal dominant 65 tests
  • Intellectual disability, autosomal dominant 84 tests
  • Intellectual disability, autosomal dominant 99 tests
  • Intellectual disability, autosomal recessive 123 tests
  • Intellectual disability, autosomal recessive 135 tests
  • Intellectual disability, autosomal recessive 31 test
  • Intellectual disability, autosomal recessive 341 test
  • Intellectual disability, autosomal recessive 423 tests
  • Intellectual disability, autosomal recessive 461 test
  • Intellectual disability, autosomal recessive 52 tests
  • Intellectual disability, autosomal recessive 534 tests
  • Intellectual disability, autosomal recessive 611 test
  • Intellectual disability, autosomal recessive 72 tests
  • Intellectual disability, X-linked 16 tests
  • Intellectual disability, X-linked 1024 tests
  • Intellectual disability, X-linked 1062 tests
  • Intellectual disability, X-linked 195 tests
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked 302 tests
  • Intellectual disability, X-linked 494 tests
  • Intellectual disability, X-linked 501 test
  • Intellectual disability, X-linked 722 tests
  • Intellectual disability, X-linked 932 tests
  • Intellectual disability, X-linked 992 tests
  • Intellectual disability, X-linked 99, syndromic, female-restricted2 tests
  • Intellectual disability, X-linked syndromic, Turner type1 test
  • Intellectual disability, X-linked, syndromic 333 tests
  • Intellectual disability, X-linked, with or without seizures, arx-related9 tests
  • Intellectual disability, X-linked, with panhypopituitarism2 tests
  • Intellectual disability-epilepsy-extrapyramidal syndrome3 tests
  • Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3 tests
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2 tests
  • Intellectual disability-hypotonic facies syndrome, X-linked, 18 tests
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome2 tests
  • Interleukin 6, serum level of, quantitative trait locus4 tests
  • Interstitial lung disease 211 tests
  • Interstitial lung disease due to ABCA3 deficiency5 tests
  • Intervertebral disc disorder5 tests
  • Intestinal hypomagnesemia 14 tests
  • Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency3 tests
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked9 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency7 tests
  • Iodotyrosyl coupling defect1 test
  • Irido-corneo-trabecular dysgenesis6 tests
  • Iron-refractory iron deficiency anemia1 test
  • Ischemic stroke4 tests
  • Isolated congenital digital clubbing1 test
  • Isolated congenital megalocornea1 test
  • Isolated coronal synostosis1 test
  • Isolated cryptophthalmia6 tests
  • Isolated focal cortical dysplasia type II13 tests
  • Isolated focal non-epidermolytic palmoplantar keratoderma2 tests
  • Isolated growth hormone deficiency type IB1 test
  • Isolated growth hormone deficiency, type 41 test
  • Isolated lutropin deficiency1 test
  • Isolated microphthalmia 22 tests
  • Isolated microphthalmia 31 test
  • Isolated microphthalmia 42 tests
  • Isolated microphthalmia 53 tests
  • Isolated microphthalmia 62 tests
  • Isolated microphthalmia 81 test
  • Isolated neonatal sclerosing cholangitis7 tests
  • Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
  • Isolated optic nerve hypoplasia6 tests
  • Isolated sedoheptulokinase deficiency2 tests
  • Isolated thyroid-stimulating hormone deficiency1 test
  • Isovaleryl-CoA dehydrogenase deficiency8 tests
  • Jaberi-Elahi syndrome3 tests
  • Jackson-Weiss syndrome7 tests
  • Jalili syndrome1 test
  • Jawad syndrome2 tests
  • Jervell and Lange-Nielsen syndrome1 test
  • Jervell and Lange-Nielsen syndrome 16 tests
  • Jervell and Lange-Nielsen syndrome 26 tests
  • Jeune thoracic dystrophy2 tests
  • Johanson-Blizzard syndrome3 tests
  • Joint laxity, short stature, and myopia1 test
  • Joubert syndrome 16 tests
  • Joubert syndrome 1013 tests
  • Joubert syndrome 136 tests
  • Joubert syndrome 146 tests
  • Joubert syndrome 155 tests
  • Joubert syndrome 165 tests
  • Joubert syndrome 177 tests
  • Joubert syndrome 186 tests
  • Joubert syndrome 211 tests
  • Joubert syndrome 205 tests
  • Joubert syndrome 218 tests
  • Joubert syndrome 225 tests
  • Joubert syndrome 237 tests
  • Joubert syndrome 244 tests
  • Joubert syndrome 254 tests
  • Joubert syndrome 273 tests
  • Joubert syndrome 288 tests
  • Joubert syndrome 312 tests
  • Joubert syndrome 301 test
  • Joubert syndrome 313 tests
  • Joubert syndrome 321 test
  • Joubert syndrome 351 test
  • Joubert syndrome 382 tests
  • Joubert syndrome 401 test
  • Joubert syndrome 516 tests
  • Joubert syndrome 611 tests
  • Joubert syndrome 710 tests
  • Joubert syndrome 85 tests
  • Joubert syndrome 912 tests
  • Joubert syndrome with renal defect12 tests
  • Juberg-Hayward syndrome3 tests
  • Junctional epidermolysis bullosa gravis of Herlitz2 tests
  • Junctional epidermolysis bullosa with pyloric atresia8 tests
  • Junctional epidermolysis bullosa, non-Herlitz type5 tests
  • Juvenile (Subacute) Hexosaminidase A Deficiency1 test
  • Juvenile amyotrophic lateral sclerosis1 test
  • Juvenile myelomonocytic leukemia18 tests
  • Juvenile nephropathic cystinosis10 tests
  • Juvenile onset Parkinson disease 19A2 tests
  • Juvenile polyposis syndrome4 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome14 tests
  • Juvenile primary lateral sclerosis4 tests
  • Juvenile retinoschisis4 tests
  • Kabuki syndrome 111 tests
  • Kabuki syndrome 210 tests
  • Kahrizi syndrome4 tests
  • Kartagener syndrome6 tests
  • Karyomegalic interstitial nephritis2 tests
  • KBG syndrome4 tests
  • Kennedy disease2 tests
  • Keppen-Lubinsky syndrome1 test
  • Keratitis fugax hereditaria6 tests
  • Keratoconus 12 tests
  • Keratoderma-ichthyosis-deafness syndrome, autosomal recessive1 test
  • Keratosis follicularis1 test
  • Keratosis follicularis spinulosa decalvans, X-linked4 tests
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome6 tests
  • Keratosis palmoplantaris striata 210 tests
  • Keratosis palmoplantaris striata 32 tests
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency5 tests
  • Keutel syndrome3 tests
  • Kilquist syndrome2 tests
  • Kindler syndrome3 tests
  • King Denborough syndrome4 tests
  • Kleefstra syndrome 16 tests
  • Kleefstra syndrome 21 test
  • Klinefelter syndrome2 tests
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome5 tests
  • Klippel-Feil syndrome 1, autosomal dominant2 tests
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Kniest dysplasia5 tests
  • Knobloch syndrome3 tests
  • Knobloch syndrome 11 test
  • Knuckle pads, deafness AND leukonychia syndrome6 tests
  • Koolen-de Vries syndrome4 tests
  • Kostmann syndrome6 tests
  • Krabbe disease due to saposin A deficiency6 tests
  • Kufor-Rakeb syndrome10 tests
  • Kugelberg-Welander disease8 tests
  • Kuru, susceptibility to2 tests
  • Kury-Isidor syndrome2 tests
  • L-2-hydroxyglutaric aciduria5 tests
  • L-ferritin deficiency5 tests
  • LADD syndrome 11 test
  • Lafora disease2 tests
  • LAMB2-related infantile-onset nephrotic syndrome3 tests
  • Landau-Kleffner syndrome2 tests
  • Langer-Giedion syndrome1 test
  • Langereis blood group1 test
  • Large congenital melanocytic nevus7 tests
  • Laron-type isolated somatotropin defect3 tests
  • Larsen syndrome2 tests
  • Larsen-like syndrome, B3GAT3 type5 tests
  • Laryngo-onycho-cutaneous syndrome2 tests
  • Late-onset retinal degeneration2 tests
  • Lateral meningocele syndrome1 test
  • Lathosterolosis2 tests
  • Lattice corneal dystrophy Type I1 test
  • Lattice corneal dystrophy Type III1 test
  • Laurence-Moon syndrome3 tests
  • Laurin-Sandrow syndrome1 test
  • Lazy leukocyte syndrome3 tests
  • Leber congenital amaurosis1 test
  • Leber congenital amaurosis 13 tests
  • Leber congenital amaurosis 1014 tests
  • Leber congenital amaurosis 112 tests
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 133 tests
  • Leber congenital amaurosis 142 tests
  • Leber congenital amaurosis 152 tests
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 172 tests
  • Leber congenital amaurosis 25 tests
  • Leber congenital amaurosis 31 test
  • Leber congenital amaurosis 42 tests
  • Leber congenital amaurosis 52 tests
  • Leber congenital amaurosis 62 tests
  • Leber congenital amaurosis 72 tests
  • Leber congenital amaurosis 83 tests
  • Leber congenital amaurosis 92 tests
  • Left ventricular noncompaction 107 tests
  • Legg-Calve-Perthes disease5 tests
  • Legius syndrome5 tests
  • Leigh syndrome5 tests
  • Lenz-Majewski hyperostosis syndrome2 tests
  • LEOPARD syndrome 110 tests
  • LEOPARD syndrome 28 tests
  • LEOPARD syndrome 37 tests
  • Leprechaunism syndrome1 test
  • Lesch-Nyhan syndrome7 tests
  • Lethal acantholytic epidermolysis bullosa10 tests
  • Lethal arthrogryposis-anterior horn cell disease syndrome1 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital contracture syndrome 71 test
  • Lethal congenital glycogen storage disease of heart8 tests
  • Lethal Kniest-like syndrome1 test
  • Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1 test
  • Lethal multiple pterygium syndrome4 tests
  • Lethal osteosclerotic bone dysplasia3 tests
  • Lethal polymalformative syndrome, Boissel type1 test
  • Lethal tight skin contracture syndrome16 tests
  • Leucine-induced hypoglycemia5 tests
  • Leukocyte adhesion deficiency 16 tests
  • Leukocyte adhesion deficiency 34 tests
  • Leukocyte adhesion deficiency type II5 tests
  • Leukodystrophy and acquired microcephaly with or without dystonia;1 test
  • Leukodystrophy, hypomyelinating, 141 test
  • Leukodystrophy, hypomyelinating, 161 test
  • Leukodystrophy, hypomyelinating, 171 test
  • Leukodystrophy, hypomyelinating, 181 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3 tests
  • Leukoencephalopathy with calcifications and cysts1 test
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema3 tests
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2 tests
  • Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome2 tests
  • Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome1 test
  • Leukoencephalopathy, progressive, with ovarian failure2 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome5 tests
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
  • Levy-Hollister syndrome3 tests
  • Lewy body dementia6 tests
  • Leydig cell agenesis1 test
  • Li-Fraumeni syndrome17 tests
  • Li-Fraumeni syndrome 130 tests
  • Li-Fraumeni syndrome 212 tests
  • Liang-Wang syndrome5 tests
  • Liberfarb syndrome1 test
  • Lichtenstein-Knorr syndrome1 test
  • Liddle syndrome 12 tests
  • Liddle syndrome 22 tests
  • Liddle syndrome 32 tests
  • Limb-girdle muscular dystrophy due to POMK deficiency9 tests
  • Limb-mammary syndrome7 tests
  • Linear nevus sebaceous syndrome9 tests
  • Linear skin defects with multiple congenital anomalies 15 tests
  • Linear skin defects with multiple congenital anomalies 22 tests
  • Linear skin defects with multiple congenital anomalies 34 tests
  • Lipase deficiency, combined1 test
  • Lipoic acid synthetase deficiency8 tests
  • Lipoyl transferase 1 deficiency6 tests
  • Lissencephaly 41 test
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly 82 tests
  • Lissencephaly 9 with complex brainstem malformation1 test
  • Lissencephaly due to LIS1 mutation4 tests
  • Lissencephaly due to TUBA1A mutation3 tests
  • Lissencephaly type 1 due to doublecortin gene mutation2 tests
  • Lissencephaly type 31 test
  • Loeys-Dietz syndrome 111 tests
  • Loeys-Dietz syndrome 211 tests
  • Loeys-Dietz syndrome 45 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency11 tests
  • Long QT syndrome1 test
  • Long QT syndrome 17 tests
  • Long QT syndrome 131 test
  • Long QT syndrome 145 tests
  • Long QT syndrome 155 tests
  • Long QT syndrome 164 tests
  • Long QT syndrome 27 tests
  • Long QT syndrome 39 tests
  • Long QT syndrome 56 tests
  • Long QT syndrome 63 tests
  • Long qt syndrome 88 tests
  • Long QT syndrome 98 tests
  • Low phospholipid associated cholelithiasis3 tests
  • Lowe syndrome12 tests
  • Lower motor neuron syndrome with late-adult onset7 tests
  • Lower urinary tract obstruction, congenital2 tests
  • Lowry-Wood syndrome5 tests
  • Lucey-Driscoll syndrome2 tests
  • Lung cancer12 tests
  • Lung carcinoma2 tests
  • Lung disease, immunodeficiency, and chromosome breakage syndrome;5 tests
  • Luscan-Lumish syndrome3 tests
  • Lymphangiomyomatosis11 tests
  • Lymphatic malformation 32 tests
  • Lymphatic malformation 62 tests
  • Lymphatic malformation 71 test
  • Lymphoma, non-Hodgkin, familial8 tests
  • Lymphoproliferative syndrome 17 tests
  • Lymphoproliferative syndrome 28 tests
  • Lynch syndrome14 tests
  • Lynch syndrome 124 tests
  • Lynch syndrome 417 tests
  • Lynch syndrome 517 tests
  • Lynch syndrome 818 tests
  • Lysinuric protein intolerance12 tests
  • Lysosomal acid lipase deficiency11 tests
  • Macrocephaly1 test
  • Macrocephaly, dysmorphic facies, and psychomotor retardation2 tests
  • Macrocephaly-autism syndrome13 tests
  • Macrocephaly-developmental delay syndrome2 tests
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome5 tests
  • Macrocephaly/megalencephaly syndrome, autosomal recessive2 tests
  • Macroglobulinemia, Waldenstrom, 12 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss6 tests
  • Macrothrombocytopenia, isolated, 1, autosomal dominant2 tests
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6 tests
  • Macular corneal dystrophy4 tests
  • Macular degeneration, age-related, 33 tests
  • Macular degeneration, early-onset2 tests
  • Macular degeneration, X-linked atrophic5 tests
  • Macular dystrophy with central cone involvement12 tests
  • Majeed syndrome7 tests
  • Malan overgrowth syndrome3 tests
  • Malaria, susceptibility to15 tests
  • Malignant hyperthermia, susceptibility to, 110 tests
  • Malignant hyperthermia, susceptibility to, 59 tests
  • Malignant melanoma of skin2 tests
  • Malignant rhabdoid tumor, somatic1 test
  • Malignant tumor of esophagus15 tests
  • Malignant tumor of prostate17 tests
  • Malignant tumor of testis2 tests
  • Malignant tumor of urinary bladder18 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome7 tests
  • Mandibuloacral dysplasia with type A lipodystrophy20 tests
  • Mandibuloacral dysplasia with type B lipodystrophy2 tests
  • Mandibulofacial dysostosis with alopecia2 tests
  • Mandibulofacial dysostosis-microcephaly syndrome3 tests
  • Maple syrup urine disease13 tests
  • Maple syrup urine disease, mild variant5 tests
  • Marden-Walker syndrome1 test
  • Marfan syndrome9 tests
  • Marinesco-Sjögren syndrome4 tests
  • Marshall syndrome5 tests
  • Marshall-Smith syndrome3 tests
  • Martsolf syndrome1 test
  • Martsolf syndrome 14 tests
  • Martsolf syndrome 23 tests
  • MASA syndrome7 tests
  • MASS syndrome8 tests
  • Mast syndrome2 tests
  • Mastocytosis1 test
  • Matthew-Wood syndrome1 test
  • 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 133 tests
  • 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 37 tests
  • Maturity-onset diabetes of the young type 42 tests
  • Maturity-onset diabetes of the young type 62 tests
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 91 test
  • McCune-Albright syndrome10 tests
  • McKusick-Kaufman syndrome8 tests
  • Meacham syndrome10 tests
  • Meckel syndrome 132 tests
  • Meckel syndrome, type 111 tests
  • Meckel syndrome, type 104 tests
  • Meckel syndrome, type 115 tests
  • Meckel syndrome, type 211 tests
  • Meckel syndrome, type 311 tests
  • Meckel syndrome, type 416 tests
  • Meckel syndrome, type 59 tests
  • Meckel syndrome, type 612 tests
  • Meckel syndrome, type 86 tests
  • Meckel syndrome, type 95 tests
  • Meckel-Gruber syndrome3 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency12 tests
  • MEDNIK syndrome6 tests
  • Medulloblastoma21 tests
  • Meester-Loeys syndrome3 tests
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations2 tests
  • Megaconial type congenital muscular dystrophy4 tests
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 13 tests
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 24 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 15 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness8 tests
  • Megalocornea1 test
  • MEGF10-related myopathy3 tests
  • MEGF8-related Carpenter syndrome4 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 63 tests
  • Meier-Gorlin syndrome 72 tests
  • Meier-Gorlin syndrome 82 tests
  • Melanoma2 tests
  • Melanoma and neural system tumor syndrome7 tests
  • Melanoma, cutaneous malignant, susceptibility to, 110 tests
  • Melanoma, cutaneous malignant, susceptibility to, 27 tests
  • Melanoma, cutaneous malignant, susceptibility to, 35 tests
  • Melanoma, cutaneous malignant, susceptibility to, 87 tests
  • Melanoma, cutaneous malignant, susceptibility to, 912 tests
  • Melanoma, uveal, susceptibility to, 22 tests
  • Melanoma-pancreatic cancer syndrome8 tests
  • Melnick-Needles syndrome9 tests
  • Melorheostosis7 tests
  • MEND syndrome3 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 deficiency2 tests
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency6 tests
  • Menke-Hennekam syndrome 17 tests
  • Menke-Hennekam syndrome 24 tests
  • Menkes kinky-hair syndrome13 tests
  • Meretoja syndrome4 tests
  • Merosin deficient congenital muscular dystrophy8 tests
  • Mesoaxial synostotic syndactyly with phalangeal reduction1 test
  • Mesothelioma, malignant15 tests
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression7 tests
  • Metabolic myopathy due to lactate transporter defect5 tests
  • Metabolic syndrome X4 tests
  • Metachondromatosis9 tests
  • Metachromatic leukodystrophy13 tests
  • Metaphyseal anadysplasia 21 test
  • Metaphyseal chondrodysplasia, Jansen type3 tests
  • Metaphyseal chondrodysplasia, McKusick type9 tests
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal chondrodysplasia, Spahr type1 test
  • Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome2 tests
  • Metaphyseal dysplasia without hypotrichosis9 tests
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome1 test
  • Metatropic dysplasia5 tests
  • Methemoglobinemia type 41 test
  • Methemoglobinemia, alpha type3 tests
  • Methemoglobinemia, beta-globin type3 tests
  • Methylcobalamin deficiency type cblE9 tests
  • Methylcobalamin deficiency type cblG10 tests
  • Methylcrotonyl-CoA carboxylase deficiency1 test
  • Methylmalonate semialdehyde dehydrogenase deficiency5 tests
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency9 tests
  • Methylmalonic acidemia due to transcobalamin receptor defect6 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ8 tests
  • Methylmalonic acidemia with homocystinuria, type cblX8 tests
  • Methylmalonic aciduria and homocystinuria type cblD10 tests
  • Methylmalonic aciduria and homocystinuria type cblF10 tests
  • Methylmalonic aciduria, cblA type9 tests
  • Methylmalonic aciduria, cblB type9 tests
  • Mevalonic aciduria12 tests
  • MGAT2-congenital disorder of glycosylation2 tests
  • MHC class I deficiency3 tests
  • MHC class II deficiency5 tests
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant14 tests
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type2 tests
  • Microcephalic osteodysplastic primordial dwarfism type II3 tests
  • Microcephalic primordial dwarfism due to RTTN deficiency4 tests
  • Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
  • Microcephalic primordial dwarfism, Alazami type2 tests
  • Microcephaly 1, primary, autosomal recessive5 tests
  • Microcephaly 15, primary, autosomal recessive2 tests
  • Microcephaly 17, primary, autosomal recessive1 test
  • Microcephaly 19, primary, autosomal recessive2 tests
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
  • Microcephaly 3, primary, autosomal recessive2 tests
  • Microcephaly 5, primary, autosomal recessive2 tests
  • Microcephaly 6, primary, autosomal recessive2 tests
  • Microcephaly 7, primary, autosomal recessive1 test
  • Microcephaly 8, primary, autosomal recessive2 tests
  • Microcephaly 9, primary, autosomal recessive3 tests
  • Microcephaly and chorioretinopathy 12 tests
  • Microcephaly and chorioretinopathy 23 tests
  • Microcephaly and chorioretinopathy 33 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability2 tests
  • Microcephaly, epilepsy, and diabetes syndrome1 test
  • Microcephaly, epilepsy, and diabetes syndrome 13 tests
  • Microcephaly, growth deficiency, seizures, and brain malformations2 tests
  • Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
  • Microcephaly, normal intelligence and immunodeficiency10 tests
  • Microcephaly, seizures, and developmental delay3 tests
  • Microcephaly, short stature, and impaired glucose metabolism 13 tests
  • Microcephaly, short stature, and impaired glucose metabolism 21 test
  • Microcephaly, short stature, and limb abnormalities1 test
  • Microcephaly-capillary malformation syndrome3 tests
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2 tests
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome3 tests
  • Microcephaly-micromelia syndrome1 test
  • Microcephaly-thin corpus callosum-intellectual disability syndrome1 test
  • Microcornea-myopic chorioretinal atrophy2 tests
  • Microcytic anemia with liver iron overload1 test
  • Microphthalmia with brain and digit anomalies7 tests
  • Microphthalmia with limb anomalies2 tests
  • Microphthalmia, isolated, with coloboma 104 tests
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 53 tests
  • Microphthalmia, isolated, with coloboma 62 tests
  • Microphthalmia, isolated, with coloboma 71 test
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 16 tests
  • Microphthalmia, syndromic 111 test
  • Microphthalmia, syndromic 121 test
  • Microspherophakia2 tests
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma2 tests
  • Microvascular complications of diabetes, susceptibility to, 35 tests
  • Microvascular complications of diabetes, susceptibility to, 44 tests
  • Microvascular complications of diabetes, susceptibility to, 74 tests
  • Migraine with or without aura, susceptibility to, 12 tests
  • Migraine, familial hemiplegic, 16 tests
  • Migraine, familial hemiplegic, 23 tests
  • Migraine, familial hemiplegic, 34 tests
  • Miller syndrome2 tests
  • MIRAGE syndrome6 tests
  • Mirror movements 21 test
  • Mismatch repair cancer syndrome 124 tests
  • Mismatch repair cancer syndrome 210 tests
  • Mismatch repair cancer syndrome 310 tests
  • Mismatch repair cancer syndrome 410 tests
  • Mitchell syndrome7 tests
  • Mitochondrial complex 1 deficiency, nuclear type 102 tests
  • Mitochondrial complex 1 deficiency, nuclear type 112 tests
  • Mitochondrial complex 1 deficiency, nuclear type 122 tests
  • Mitochondrial complex 1 deficiency, nuclear type 132 tests
  • Mitochondrial complex 1 deficiency, nuclear type 142 tests
  • Mitochondrial complex 1 deficiency, nuclear type 151 test
  • Mitochondrial complex 1 deficiency, nuclear type 163 tests
  • Mitochondrial complex 1 deficiency, nuclear type 172 tests
  • Mitochondrial complex 1 deficiency, nuclear type 182 tests
  • Mitochondrial complex 1 deficiency, nuclear type 193 tests
  • Mitochondrial complex 1 deficiency, nuclear type 22 tests
  • Mitochondrial complex 1 deficiency, nuclear type 213 tests
  • Mitochondrial complex 1 deficiency, nuclear type 222 tests
  • Mitochondrial complex 1 deficiency, nuclear type 232 tests
  • Mitochondrial complex 1 deficiency, nuclear type 242 tests
  • Mitochondrial complex 1 deficiency, nuclear type 252 tests
  • Mitochondrial complex 1 deficiency, nuclear type 261 test
  • Mitochondrial complex 1 deficiency, nuclear type 272 tests
  • Mitochondrial complex 1 deficiency, nuclear type 281 test
  • Mitochondrial complex 1 deficiency, nuclear type 292 tests
  • Mitochondrial complex 1 deficiency, nuclear type 33 tests
  • Mitochondrial complex 1 deficiency, nuclear type 304 tests
  • Mitochondrial complex 1 deficiency, nuclear type 312 tests
  • Mitochondrial complex 1 deficiency, nuclear type 322 tests
  • Mitochondrial complex 1 deficiency, nuclear type 332 tests
  • Mitochondrial complex 1 deficiency, nuclear type 43 tests
  • Mitochondrial complex 1 deficiency, nuclear type 52 tests
  • Mitochondrial complex 1 deficiency, nuclear type 62 tests
  • Mitochondrial complex 1 deficiency, nuclear type 72 tests
  • Mitochondrial complex 1 deficiency, nuclear type 82 tests
  • Mitochondrial complex 1 deficiency, nuclear type 93 tests
  • Mitochondrial complex 2 deficiency, nuclear type 21 test
  • Mitochondrial complex 2 deficiency, nuclear type 36 tests
  • Mitochondrial complex 2 deficiency, nuclear type 46 tests
  • Mitochondrial complex 4 deficiency, nuclear type 103 tests
  • Mitochondrial complex 4 deficiency, nuclear type 114 tests
  • Mitochondrial complex 4 deficiency, nuclear type 123 tests
  • Mitochondrial complex 4 deficiency, nuclear type 141 test
  • Mitochondrial complex 4 deficiency, nuclear type 152 tests
  • Mitochondrial complex 4 deficiency, nuclear type 211 test
  • Mitochondrial complex 4 deficiency, nuclear type 33 tests
  • Mitochondrial complex 4 deficiency, nuclear type 41 test
  • Mitochondrial complex 4 deficiency, nuclear type 74 tests
  • Mitochondrial complex 4 deficiency, nuclear type 81 test
  • Mitochondrial complex I deficiency, nuclear type 13 tests
  • Mitochondrial complex II deficiency, nuclear type 111 tests
  • Mitochondrial complex III deficiency nuclear type 17 tests
  • Mitochondrial complex III deficiency nuclear type 23 tests
  • Mitochondrial complex III deficiency nuclear type 31 test
  • Mitochondrial complex III deficiency nuclear type 41 test
  • 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 83 tests
  • Mitochondrial complex III deficiency nuclear type 91 test
  • Mitochondrial complex IV deficiency, nuclear type 18 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 29 tests
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 13 tests
  • Mitochondrial DNA deletion syndrome with progressive myopathy5 tests
  • Mitochondrial DNA depletion syndrome 116 tests
  • Mitochondrial DNA depletion syndrome 113 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 137 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)6 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 16 (hepatic type)5 tests
  • Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)3 tests
  • Mitochondrial DNA depletion syndrome 181 test
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)8 tests
  • Mitochondrial DNA depletion syndrome 4b16 tests
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)8 tests
  • Mitochondrial DNA depletion syndrome 8a5 tests
  • Mitochondrial DNA depletion syndrome 98 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria11 tests
  • Mitochondrial DNA depletion syndrome, myopathic form10 tests
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency5 tests
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy2 tests
  • Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome3 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome3 tests
  • Mitochondrial pyruvate carrier deficiency3 tests
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency5 tests
  • Mitochondrial trifunctional protein deficiency12 tests
  • Mitral valve prolapse, myxomatous 21 test
  • Miyoshi muscular dystrophy 16 tests
  • Miyoshi muscular dystrophy 37 tests
  • MOGS-congenital disorder of glycosylation5 tests
  • Monocytopenia with susceptibility to infections11 tests
  • Monosomy 211 test
  • Monosomy 7 myelodysplasia and leukemia syndrome 16 tests
  • Monosomy 7 myelodysplasia and leukemia syndrome 26 tests
  • MORM syndrome5 tests
  • Mowat-Wilson syndrome5 tests
  • Moyamoya disease 21 test
  • Moyamoya disease 56 tests
  • Moyamoya disease with early-onset achalasia1 test
  • MPDU1-congenital disorder of glycosylation2 tests
  • MPI-congenital disorder of glycosylation4 tests
  • Mucocutaneous ulceration, chronic4 tests
  • Mucolipidosis type II9 tests
  • Mucolipidosis type IV5 tests
  • Mucopolysaccharidosis type 66 tests
  • Mucopolysaccharidosis type 78 tests
  • Mucopolysaccharidosis, MPS-I-H/S10 tests
  • Mucopolysaccharidosis, MPS-I-S10 tests
  • Mucopolysaccharidosis, MPS-II11 tests
  • Mucopolysaccharidosis, MPS-III-A13 tests
  • Mucopolysaccharidosis, MPS-III-B13 tests
  • Mucopolysaccharidosis, MPS-III-C12 tests
  • Mucopolysaccharidosis, MPS-III-D12 tests
  • Mucopolysaccharidosis, MPS-IV-A6 tests
  • Mucopolysaccharidosis, MPS-IV-B11 tests
  • Mucopolysaccharidosis-plus syndrome4 tests
  • Mucosa-associated lymphoma3 tests
  • Muenke syndrome4 tests
  • Muir-Torré syndrome21 tests
  • Mulibrey nanism syndrome2 tests
  • Mullegama-Klein-Martinez syndrome4 tests
  • Mullerian aplasia and hyperandrogenism3 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy2 tests
  • Multicentric osteolysis nodulosis arthropathy spectrum1 test
  • Multiple acyl-CoA dehydrogenase deficiency14 tests
  • Multiple carboxylase deficiency1 test
  • Multiple congenital anomalies1 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 16 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 24 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 34 tests
  • Multiple congenital exostosis4 tests
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple endocrine neoplasia2 tests
  • Multiple endocrine neoplasia type 2A11 tests
  • Multiple endocrine neoplasia type 2B11 tests
  • Multiple endocrine neoplasia type 45 tests
  • Multiple endocrine neoplasia, type 113 tests
  • Multiple endocrine neoplasia, type 25 tests
  • Multiple epiphyseal dysplasia type 11 test
  • Multiple epiphyseal dysplasia type 47 tests
  • Multiple epiphyseal dysplasia, Al-Gazali type8 tests
  • Multiple epiphyseal dysplasia, Beighton type5 tests
  • Multiple gastrointestinal atresias6 tests
  • Multiple mitochondrial dysfunctions syndrome 16 tests
  • Multiple mitochondrial dysfunctions syndrome 26 tests
  • Multiple mitochondrial dysfunctions syndrome 37 tests
  • Multiple mitochondrial dysfunctions syndrome 46 tests
  • Multiple mitochondrial dysfunctions syndrome 52 tests
  • Multiple mitochondrial dysfunctions syndrome 61 test
  • Multiple myeloma9 tests
  • Multiple sclerosis, susceptibility to, 54 tests
  • Multiple self-healing squamous epithelioma11 tests
  • Multiple sulfatase deficiency10 tests
  • Multiple synostoses syndrome 23 tests
  • Multiple synostoses syndrome 32 tests
  • Multiple synostoses syndrome 42 tests
  • Multiple system atrophy3 tests
  • Multiple system atrophy 1, susceptibility to7 tests
  • Multisystemic smooth muscle dysfunction syndrome6 tests
  • Mungan syndrome4 tests
  • Muscle AMP deaminase deficiency5 tests
  • Muscular dystrophy, congenital, with or without seizures1 test
  • Muscular dystrophy, limb-girdle, autosomal dominant 45 tests
  • Muscular dystrophy, limb-girdle, autosomal recessive 238 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 109 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 118 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 129 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 415 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 88 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A115 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A137 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A144 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A210 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A311 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A515 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A69 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A97 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 157 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B110 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B144 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B210 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B311 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B415 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 88 tests
  • Muscular dystrophy-dystroglycanopathy type B515 tests
  • Muscular dystrophy-dystroglycanopathy type B69 tests
  • Mutilating keratoderma6 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel3 tests
  • Myasthenic syndrome, congenital, 226 tests
  • Myasthenic syndrome, congenital, 23, presynaptic5 tests
  • Myasthenic syndrome, congenital, 25, presynaptic4 tests
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive1 test
  • Mycobacterium tuberculosis, susceptibility to3 tests
  • Myelodysplastic syndrome15 tests
  • Myeloproliferative disorder, chronic, with eosinophilia2 tests
  • MYH7-related skeletal myopathy10 tests
  • Myhre syndrome7 tests
  • Myocardial infarction 12 tests
  • Myocardial infarction, susceptibility to5 tests
  • Myoclonic dystonia 114 tests
  • Myoclonic dystonia 263 tests
  • Myoclonic-astatic epilepsy2 tests
  • Myoclonic-atonic epilepsy1 test
  • Myoclonus, familial, 24 tests
  • Myoclonus, intractable, neonatal6 tests
  • Myofibrillar myopathy 27 tests
  • Myofibrillar myopathy 34 tests
  • Myofibrillar myopathy 42 tests
  • Myofibrillar myopathy 511 tests
  • Myofibrillar myopathy 613 tests
  • Myofibrillar myopathy 83 tests
  • Myofibromatosis, infantile, 12 tests
  • Myofibromatosis, infantile, 21 test
  • Myoglobinuria, acute recurrent, autosomal recessive5 tests
  • Myopathy due to calsequestrin and SERCA1 protein overload3 tests
  • Myopathy with abnormal lipid metabolism8 tests
  • Myopathy, centronuclear, 23 tests
  • Myopathy, centronuclear, 53 tests
  • Myopathy, centronuclear, 6, with fiber-type disproportion4 tests
  • Myopathy, congenital, with structured cores and z-line abnormalities8 tests
  • Myopathy, distal, 6, adult-onset, autosomal dominant8 tests
  • Myopathy, distal, with rimmed vacuoles10 tests
  • Myopathy, epilepsy, and progressive cerebral atrophy4 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 16 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 26 tests
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy5 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure13 tests
  • Myopathy, myosin storage, autosomal recessive10 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, reducing body, X-linked, childhood-onset10 tests
  • Myopathy, reducing body, X-linked, early-onset, severe10 tests
  • Myopathy, tubular aggregate, 19 tests
  • Myopathy, tubular aggregate, 26 tests
  • Myopia 69 tests
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosclerosis5 tests
  • Myosin storage myopathy10 tests
  • MYPN-related myopathy3 tests
  • NAD(P)HX dehydratase deficiency1 test
  • Naegeli-Franceschetti-Jadassohn syndrome2 tests
  • Nager syndrome2 tests
  • Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome3 tests
  • Nail-patella syndrome5 tests
  • Nail-patella-like renal disease4 tests
  • Namaqualand hip dysplasia5 tests
  • Nance-Horan syndrome1 test
  • Nanophthalmos 23 tests
  • Nasopharyngeal carcinoma11 tests
  • Naxos disease9 tests
  • NDE1-related microhydranencephaly1 test
  • Nemaline myopathy 103 tests
  • Nemaline myopathy 26 tests
  • Nemaline myopathy 53 tests
  • Nemaline myopathy 61 test
  • Nemaline myopathy 73 tests
  • Nemaline myopathy 83 tests
  • Nemaline myopathy 91 test
  • Neonatal diabetes mellitus with congenital hypothyroidism3 tests
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome6 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome3 tests
  • Neonatal intrahepatic cholestasis due to citrin deficiency11 tests
  • Neonatal pseudo-hydrocephalic progeroid syndrome4 tests
  • Neonatal severe primary hyperparathyroidism10 tests
  • Neonatal-onset encephalopathy with rigidity and seizures3 tests
  • Neoplasm of lung1 test
  • Neoplasm of ovary15 tests
  • Neoplasm of stomach1 test
  • Nephroblastoma5 tests
  • Nephrogenic syndrome of inappropriate antidiuresis4 tests
  • Nephronophthisis2 tests
  • Nephronophthisis 111 tests
  • Nephronophthisis 1110 tests
  • Nephronophthisis 128 tests
  • Nephronophthisis 136 tests
  • Nephronophthisis 149 tests
  • Nephronophthisis 1510 tests
  • Nephronophthisis 165 tests
  • Nephronophthisis 186 tests
  • Nephronophthisis 197 tests
  • Nephronophthisis 203 tests
  • Nephronophthisis 39 tests
  • Nephronophthisis 47 tests
  • Nephronophthisis 75 tests
  • Nephronophthisis 81 test
  • Nephronophthisis 95 tests
  • Nephronophthisis-like nephropathy 15 tests
  • Nephronophthisis-like nephropathy 22 tests
  • Nephropathic cystinosis10 tests
  • Nephrotic syndrome 146 tests
  • Nephrotic syndrome 153 tests
  • Nephrotic syndrome 165 tests
  • Nephrotic syndrome, IIa 261 test
  • Nephrotic syndrome, type 103 tests
  • Nephrotic syndrome, type 113 tests
  • Nephrotic syndrome, type 123 tests
  • Nephrotic syndrome, type 133 tests
  • Nephrotic syndrome, type 173 tests
  • Nephrotic syndrome, type 182 tests
  • Nephrotic syndrome, type 193 tests
  • Nephrotic syndrome, type 26 tests
  • Nephrotic syndrome, type 202 tests
  • Nephrotic syndrome, type 33 tests
  • Nephrotic syndrome, type 410 tests
  • Nephrotic syndrome, type 63 tests
  • Nephrotic syndrome, type 83 tests
  • Nephrotic syndrome, type 96 tests
  • Netherton syndrome7 tests
  • Neu-Laxova syndrome 19 tests
  • Neu-Laxova syndrome 26 tests
  • Neural tube defects, folate-sensitive16 tests
  • Neuroblastoma4 tests
  • Neuroblastoma, susceptibility to, 24 tests
  • Neuroblastoma, susceptibility to, 34 tests
  • Neurocutaneous melanocytosis6 tests
  • Neurodegeneration with ataxia and late-onset optic atrophy7 tests
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset10 tests
  • Neurodegeneration with brain iron accumulation 2B10 tests
  • Neurodegeneration with brain iron accumulation 47 tests
  • Neurodegeneration with brain iron accumulation 59 tests
  • Neurodegeneration with brain iron accumulation 67 tests
  • Neurodegeneration with brain iron accumulation 74 tests
  • Neurodegeneration with brain iron accumulation 83 tests
  • Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities1 test
  • Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia2 tests
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity2 tests
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter3 tests
  • Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies1 test
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures3 tests
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1 test
  • Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies2 tests
  • Neurodevelopmental disorder with epilepsy and hemochromatosis1 test
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1 test
  • Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures2 tests
  • Neurodevelopmental disorder with involuntary movements5 tests
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy2 tests
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination1 test
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies2 tests
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features3 tests
  • Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures3 tests
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart3 tests
  • Neurodevelopmental disorder with or without autism or seizures1 test
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive4 tests
  • Neurodevelopmental disorder with poor language and loss of hand skills3 tests
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies2 tests
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities2 tests
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
  • Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1 test
  • Neurodevelopmental disorder with visual defects and brain anomalies5 tests
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures3 tests
  • Neuroendocrine neoplasm2 tests
  • Neuroferritinopathy5 tests
  • Neurofibromatosis, familial spinal15 tests
  • Neurofibromatosis, type 120 tests
  • Neurofibromatosis, type 29 tests
  • Neurofibromatosis-Noonan syndrome15 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type13 tests
  • Neurohypophyseal diabetes insipidus2 tests
  • Neuronal ceroid lipofuscinosis 110 tests
  • Neuronal ceroid lipofuscinosis 109 tests
  • Neuronal ceroid lipofuscinosis 113 tests
  • Neuronal ceroid lipofuscinosis 24 tests
  • Neuronal ceroid lipofuscinosis 314 tests
  • Neuronal ceroid lipofuscinosis 511 tests
  • Neuronal ceroid lipofuscinosis 712 tests
  • Neuronal ceroid lipofuscinosis 89 tests
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant9 tests
  • Neuronopathy, distal hereditary motor, autosomal dominant 85 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 44 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 53 tests
  • Neuronopathy, distal hereditary motor, type 2A3 tests
  • Neuronopathy, distal hereditary motor, type 2B3 tests
  • Neuronopathy, distal hereditary motor, type 2D2 tests
  • Neuronopathy, distal hereditary motor, type 5A6 tests
  • Neuronopathy, distal hereditary motor, type 5B5 tests
  • Neuronopathy, distal hereditary motor, type 5C1 test
  • Neuronopathy, distal hereditary motor, type 7A4 tests
  • Neuronopathy, distal hereditary motor, type 7B7 tests
  • Neuropathy, congenital hypomyelinating, 24 tests
  • Neuropathy, congenital hypomyelinating, 31 test
  • Neuropathy, hereditary motor and sensory, type 6B4 tests
  • Neuropathy, hereditary sensory and autonomic, type 1A2 tests
  • Neuropathy, hereditary sensory and autonomic, type 1C2 tests
  • Neuropathy, hereditary sensory and autonomic, type 2A11 tests
  • Neuropathy, hereditary sensory and autonomic, type 2B2 tests
  • Neuropathy, hereditary sensory, type 1D4 tests
  • Neuropathy, hereditary sensory, type 1F2 tests
  • Neuropathy, hereditary sensory, type 2C9 tests
  • Neutral 1 amino acid transport defect6 tests
  • Neutral lipid storage myopathy5 tests
  • Neutropenia, severe congenital, 1, autosomal dominant8 tests
  • Neutropenia, severe congenital, 2, autosomal dominant5 tests
  • Neutropenia, severe congenital, 8, autosomal dominant5 tests
  • Neutrophil immunodeficiency syndrome7 tests
  • Newfoundland cone-rod dystrophy4 tests
  • Nicolaides-Baraitser syndrome3 tests
  • Niemann-Pick disease, type A9 tests
  • Niemann-Pick disease, type B8 tests
  • Niemann-Pick disease, type C1 test
  • Niemann-Pick disease, type C114 tests
  • Niemann-Pick disease, type C213 tests
  • Nifedipine response1 test
  • Night blindness, congenital stationary, type1i3 tests
  • Nijmegen breakage syndrome-like disorder2 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities4 tests
  • Non-ketotic hyperglycinemia12 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to2 tests
  • Nonimmune chronic idiopathic neutropenia of adults5 tests
  • Nonpapillary renal cell carcinoma19 tests
  • Nonsyndromic congenital nail disorder 86 tests
  • Nonsyndromic genetic hearing loss1 test
  • Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
  • Noonan syndrome1 test
  • Noonan syndrome 110 tests
  • Noonan syndrome 107 tests
  • Noonan syndrome 113 tests
  • Noonan syndrome 121 test
  • Noonan syndrome 24 tests
  • Noonan syndrome 38 tests
  • Noonan syndrome 48 tests
  • Noonan syndrome 58 tests
  • Noonan syndrome 67 tests
  • Noonan syndrome 77 tests
  • Noonan syndrome 87 tests
  • Noonan syndrome 95 tests
  • Noonan syndrome with multiple lentigines1 test
  • Noonan syndrome-like disorder with loose anagen hair 19 tests
  • Noonan syndrome-like disorder with loose anagen hair 24 tests
  • Norman-Roberts syndrome3 tests
  • Normophosphatemic familial tumoral calcinosis6 tests
  • Norum disease4 tests
  • NPHP3-related Meckel-like syndrome10 tests
  • Nuclear pulverulent cataract1 test
  • Nystagmus 1, congenital, X-linked4 tests
  • Nystagmus 6, congenital, X-linked3 tests
  • O'Donnell-Luria-Rodan syndrome3 tests
  • Obesity7 tests
  • OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
  • Obesity due to CEP19 deficiency5 tests
  • Obesity due to congenital leptin deficiency2 tests
  • Obesity due to leptin receptor gene deficiency2 tests
  • Obesity due to pro-opiomelanocortin deficiency3 tests
  • Obesity due to prohormone convertase I deficiency3 tests
  • Obesity, hyperphagia, and developmental delay3 tests
  • Occipital pachygyria and polymicrogyria1 test
  • Occult macular dystrophy2 tests
  • Ocular albinism, type I3 tests
  • Ocular albinism, type II2 tests
  • Ocular cystinosis10 tests
  • Oculoauricular syndrome2 tests
  • Oculocerebrodental syndrome2 tests
  • Oculocerebrofacial syndrome, Kaufman type4 tests
  • Oculocutaneous albinism type 1B6 tests
  • Oculocutaneous albinism type 34 tests
  • Oculocutaneous albinism type 44 tests
  • Oculocutaneous albinism type 61 test
  • Oculocutaneous albinism type 71 test
  • Oculodentodigital dysplasia10 tests
  • Oculodentodigital dysplasia, autosomal recessive10 tests
  • Oculofaciocardiodental syndrome5 tests
  • Oculomaxillofacial dysostosis1 test
  • Oculootoradial syndrome3 tests
  • Oculotrichoanal syndrome4 tests
  • Odonto-onycho-dermal dysplasia2 tests
  • Odontochondrodysplasia 13 tests
  • Ogden syndrome3 tests
  • Oguchi disease1 test
  • Oguchi disease-11 test
  • Olanzapine response1 test
  • Oligodontia-cancer predisposition syndrome10 tests
  • Olmsted syndrome 12 tests
  • Olmsted syndrome, X-linked4 tests
  • Omeprazole response1 test
  • Oocyte/zygote/embryo maturation arrest 171 test
  • Opsismodysplasia2 tests
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
  • Optic atrophy 112 tests
  • Optic atrophy 122 tests
  • Optic atrophy 39 tests
  • Optic atrophy 55 tests
  • Optic atrophy 94 tests
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy6 tests
  • Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive5 tests
  • Ornithine aminotransferase deficiency8 tests
  • Ornithine carbamoyltransferase deficiency17 tests
  • Orofacial cleft 117 tests
  • Orofacial cleft 51 test
  • Orofacial cleft 6, susceptibility to1 test
  • Orofacial cleft 87 tests
  • Orofacial-digital syndrome IV7 tests
  • Orofaciodigital syndrome 162 tests
  • Orofaciodigital syndrome 171 test
  • Orofaciodigital syndrome 181 test
  • Orofaciodigital syndrome I12 tests
  • Orofaciodigital syndrome type 143 tests
  • Orofaciodigital syndrome type 67 tests
  • Orofaciodigital syndrome V1 test
  • Orofaciodigital syndrome XV2 tests
  • Orotic aciduria1 test
  • Orthostatic hypotension 16 tests
  • Osteoarthritis susceptibility 53 tests
  • Osteocraniostenosis4 tests
  • Osteodysplastic primordial dwarfism, type 15 tests
  • Osteofibrous dysplasia3 tests
  • Osteogenesis imperfecta type 102 tests
  • Osteogenesis imperfecta type 113 tests
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 133 tests
  • Osteogenesis imperfecta type 152 tests
  • Osteogenesis imperfecta type 162 tests
  • Osteogenesis imperfecta type 173 tests
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 62 tests
  • Osteogenesis imperfecta type 75 tests
  • Osteogenesis imperfecta type 85 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I4 tests
  • Osteogenesis imperfecta type III4 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form4 tests
  • Osteogenesis imperfecta, perinatal lethal4 tests
  • Osteogenesis imperfecta, type 194 tests
  • Osteoglophonic dysplasia6 tests
  • Osteopathia striata with cranial sclerosis2 tests
  • Osteopetrosis with renal tubular acidosis6 tests
  • Osteoporosis2 tests
  • Osteoporosis with pseudoglioma6 tests
  • OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO2 tests
  • Otitis media, susceptibility to1 test
  • Oto-palato-digital syndrome, type I9 tests
  • Oto-palato-digital syndrome, type II9 tests
  • Otofaciocervical syndrome 14 tests
  • Otofaciocervical syndrome 24 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant6 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive6 tests
  • OVARIAN CANCER, EPITHELIAL, SOMATIC1 test
  • Ovarian dysgenesis 31 test
  • Ovarian dysgenesis 63 tests
  • Ovarian dysgenesis 72 tests
  • Ovarian dysgenesis 81 test
  • Overhydrated hereditary stomatocytosis2 tests
  • Oxoglutaricaciduria2 tests
  • Oxycodone response1 test
  • p phenotype2 tests
  • Pachyonychia congenita 11 test
  • Pachyonychia congenita 22 tests
  • Pachyonychia congenita 31 test
  • Pachyonychia congenita 41 test
  • Paget disease of bone 2, early-onset5 tests
  • Paget disease of bone 310 tests
  • Paget disease of bone 61 test
  • Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome2 tests
  • Pallister-Hall syndrome5 tests
  • Palmoplantar keratoderma i, striate, focal, or diffuse5 tests
  • Palmoplantar keratoderma, Bothnian type2 tests
  • Palmoplantar keratoderma, epidermolytic2 tests
  • Palmoplantar keratoderma, Nagashima type2 tests
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
  • Palmoplantar keratoderma, punctate type 1A1 test
  • Palmoplantar keratoderma-deafness syndrome6 tests
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome2 tests
  • Pancreatic agenesis 12 tests
  • Pancreatic agenesis 23 tests
  • Pancreatic cancer, susceptibility to, 213 tests
  • Pancreatic cancer, susceptibility to, 313 tests
  • Pancreatic cancer, susceptibility to, 411 tests
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome2 tests
  • Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
  • Pancreatic triacylglycerol lipase deficiency2 tests
  • Pancytopenia due to IKZF1 mutations6 tests
  • Pancytopenia-developmental delay syndrome5 tests
  • Panhypopituitarism, X-linked2 tests
  • Papillary renal cell carcinoma type 16 tests
  • Papillary thyroid carcinoma3 tests
  • Papillon-Lefèvre syndrome6 tests
  • Paragangliomas 113 tests
  • Paragangliomas 27 tests
  • Paragangliomas 313 tests
  • Paragangliomas 414 tests
  • Paragangliomas 514 tests
  • Paramyotonia congenita of Von Eulenburg8 tests
  • Parastremmatic dwarfism5 tests
  • Parathyroid carcinoma9 tests
  • Parietal foramina 11 test
  • Parietal foramina 21 test
  • Parietal foramina with cleidocranial dysplasia1 test
  • Parkinson disease 13, autosomal dominant, susceptibility to8 tests
  • Parkinson disease 171 test
  • Parkinson disease 22, autosomal dominant1 test
  • Parkinson disease 24, autosomal dominant, susceptibility to3 tests
  • Parkinson disease 5, autosomal dominant, susceptibility to2 tests
  • Parkinson disease, late-onset8 tests
  • Parkinsonian-pyramidal syndrome2 tests
  • Parkinsonism-dystonia, infantile, 24 tests
  • Paroxetine response1 test
  • Paroxysmal extreme pain disorder3 tests
  • Paroxysmal nocturnal hemoglobinuria 15 tests
  • Paroxysmal nocturnal hemoglobinuria 24 tests
  • Paroxysmal nonkinesigenic dyskinesia 14 tests
  • Partial androgen insensitivity syndrome2 tests
  • Partial deletion of the long arm of chromosome 111 test
  • Partial deletion of the long arm of chromosome 151 test
  • Partial deletion of the long arm of chromosome 21 test
  • Partial deletion of the long arm of chromosome 41 test
  • Partial deletion of the long arm of chromosome 61 test
  • Partial deletion of the long arm of chromosome 81 test
  • Partial deletion of the short arm of chromosome 11 test
  • Partial deletion of the short arm of chromosome 111 test
  • Partial duplication of the long arm of chromosome 121 test
  • Partial duplication of the long arm of chromosome 151 test
  • Partial duplication of the long arm of chromosome 191 test
  • Partial duplication of the long arm of chromosome 21 test
  • Partial duplication of the long arm of chromosome 31 test
  • Partial duplication of the long arm of chromosome 41 test
  • Partial duplication of the long arm of chromosome 71 test
  • Partial duplication of the short arm of chromosome 161 test
  • Partial duplication of the short arm of chromosome 21 test
  • Partial duplication of the short arm of chromosome 61 test
  • Partial duplication of the short arm of chromosome 71 test
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency7 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome3 tests
  • Partial monosomy of the long arm of chromosome 101 test
  • Partial trisomy of the long arm of chromosome 161 test
  • Partial trisomy of the long arm of chromosome 181 test
  • Partial trisomy of the long arm of chromosome 51 test
  • Partington syndrome9 tests
  • Patent ductus arteriosus 22 tests
  • Patterned macular dystrophy 12 tests
  • Patterned macular dystrophy 24 tests
  • Patterned macular dystrophy 31 test
  • PCWH syndrome4 tests
  • Peeling skin syndrome 13 tests
  • Peeling skin syndrome 52 tests
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome2 tests
  • PEHO-like syndrome2 tests
  • Pelger-Huët anomaly1 test
  • Pelizaeus-Merzbacher disease6 tests
  • Pelviscapular dysplasia2 tests
  • Pendred syndrome12 tests
  • PERCHING syndrome2 tests
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome7 tests
  • Periodontitis, aggressive 16 tests
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3 tests
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive2 tests
  • Periventricular nodular heterotopia 61 test
  • Periventricular nodular heterotopia 72 tests
  • Perlman syndrome7 tests
  • Permanent neonatal diabetes mellitus 12 tests
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome3 tests
  • Peroxisome biogenesis disorder1 test
  • Peroxisome biogenesis disorder 10A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 10B8 tests
  • Peroxisome biogenesis disorder 11A (Zellweger)10 tests
  • Peroxisome biogenesis disorder 11B9 tests
  • Peroxisome biogenesis disorder 12A (Zellweger)11 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)11 tests
  • Peroxisome biogenesis disorder 14B9 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)14 tests
  • Peroxisome biogenesis disorder 1B13 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)13 tests
  • Peroxisome biogenesis disorder 2B12 tests
  • Peroxisome biogenesis disorder 3A (Zellweger)12 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)17 tests
  • Peroxisome biogenesis disorder 4B16 tests
  • Peroxisome biogenesis disorder 5A (Zellweger)12 tests
  • Peroxisome biogenesis disorder 5B11 tests
  • Peroxisome biogenesis disorder 6A (Zellweger)12 tests
  • Peroxisome biogenesis disorder 6B11 tests
  • Peroxisome biogenesis disorder 7A (Zellweger)12 tests
  • Peroxisome biogenesis disorder 7B11 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)12 tests
  • Peroxisome biogenesis disorder 8B11 tests
  • Peroxisome biogenesis disorder 9B12 tests
  • Peroxisome biogenesis disorder type 3B11 tests
  • Perrault syndrome 17 tests
  • Perrault syndrome 22 tests
  • Perrault syndrome 33 tests
  • Perrault syndrome 45 tests
  • Perrault syndrome 58 tests
  • Perry syndrome7 tests
  • Persistent fetal circulation syndrome1 test
  • Persistent hyperplastic primary vitreous, autosomal recessive2 tests
  • Persistent Mullerian duct syndrome1 test
  • Peters plus syndrome4 tests
  • Pettigrew syndrome2 tests
  • Peutz-Jeghers syndrome20 tests
  • Pfeiffer syndrome7 tests
  • PGM1-congenital disorder of glycosylation8 tests
  • PHARC syndrome3 tests
  • Phenylketonuria11 tests
  • Pheochromocytoma18 tests
  • PHGDH deficiency10 tests
  • PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome3 tests
  • Phosphate transport defect16 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic4 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
  • Phosphoribosylpyrophosphate synthetase superactivity10 tests
  • Phytanic acid storage disease14 tests
  • Pick disease4 tests
  • Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome6 tests
  • Piebaldism6 tests
  • Pierpont syndrome3 tests
  • Pierson syndrome3 tests
  • Pigmentary pallidal degeneration10 tests
  • Pigmentary retinal dystrophy4 tests
  • Pigmented nodular adrenocortical disease, primary, 17 tests
  • Pigmented nodular adrenocortical disease, primary, 31 test
  • Pigmented paravenous retinochoroidal atrophy3 tests
  • Pili torti-deafness syndrome7 tests
  • Pilomatrixoma4 tests
  • Pitt-Hopkins syndrome5 tests
  • Pitt-Hopkins-like syndrome 24 tests
  • Pituitary adenoma 3, multiple types9 tests
  • Pituitary adenoma 5, multiple types4 tests
  • Pituitary adenoma, growth hormone-secreting, 21 test
  • Pituitary dependent hypercortisolism3 tests
  • Pituitary hormone deficiency, combined, 11 test
  • Pituitary hormone deficiency, combined, 25 tests
  • Pituitary hormone deficiency, combined, 64 tests
  • Pityriasis rubra pilaris3 tests
  • Plasminogen deficiency, type I4 tests
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease7 tests
  • Platelet-type bleeding disorder 112 tests
  • Platelet-type bleeding disorder 152 tests
  • Platelet-type bleeding disorder 162 tests
  • Platelet-type bleeding disorder 182 tests
  • Platelet-type bleeding disorder 82 tests
  • Platyspondylic dysplasia, Torrance type5 tests
  • Pleuropulmonary blastoma10 tests
  • PMM2-congenital disorder of glycosylation13 tests
  • Poikiloderma with neutropenia5 tests
  • Polyagglutinable erythrocyte syndrome2 tests
  • Polycystic kidney disease 23 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease5 tests
  • Polycystic kidney disease 48 tests
  • Polycystic kidney disease 53 tests
  • Polycystic kidney disease 6 with or without polycystic liver disease3 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 12 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 24 tests
  • Polycystic liver disease 14 tests
  • Polycystic liver disease 24 tests
  • Polycystic liver disease 3 with or without kidney cysts6 tests
  • Polycystic liver disease 4 with or without kidney cysts6 tests
  • Polydactyly of a triphalangeal thumb1 test
  • Polydactyly, postaxial, type A15 tests
  • Polyendocrine-polyneuropathy syndrome5 tests
  • Polyglandular autoimmune syndrome, type 17 tests
  • Polyglucosan body myopathy type 17 tests
  • Polyglucosan body myopathy type 25 tests
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy3 tests
  • Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome8 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive3 tests
  • Polyposis syndrome, hereditary mixed, 29 tests
  • Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal3 tests
  • Polysyndactyly 45 tests
  • Pontocerebellar hypoplasia type 101 test
  • Pontocerebellar hypoplasia type 1A4 tests
  • Pontocerebellar hypoplasia type 1B4 tests
  • Pontocerebellar hypoplasia type 2A2 tests
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 2D3 tests
  • Pontocerebellar hypoplasia type 2E1 test
  • Pontocerebellar hypoplasia type 31 test
  • Pontocerebellar hypoplasia type 42 tests
  • Pontocerebellar hypoplasia type 52 tests
  • Pontocerebellar hypoplasia type 66 tests
  • Pontocerebellar hypoplasia type 73 tests
  • Pontocerebellar hypoplasia type 82 tests
  • Pontocerebellar hypoplasia type 93 tests
  • Pontocerebellar hypoplasia, type 127 tests
  • Pontocerebellar hypoplasia, type 1C1 test
  • Pontocerebellar hypoplasia, type 1D3 tests
  • Pontocerebellar hypoplasia, type 1E1 test
  • Porencephaly 24 tests
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
  • Porokeratosis 3, disseminated superficial actinic type13 tests
  • Porphobilinogen synthase deficiency3 tests
  • Porphyria1 test
  • Portal hypertension, noncirrhotic3 tests
  • Portal hypertension, noncirrhotic, 15 tests
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome4 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 22 tests
  • Posterior polymorphous corneal dystrophy 31 test
  • Postmenopausal osteoporosis7 tests
  • Potassium-aggravated myotonia8 tests
  • Potocki-Lupski syndrome4 tests
  • PPARG-related familial partial lipodystrophy2 tests
  • Prader-Willi syndrome2 tests
  • Predisposition to invasive fungal disease due to CARD9 deficiency2 tests
  • Pregnancy loss, recurrent, susceptibility to, 14 tests
  • Pregnancy loss, recurrent, susceptibility to, 24 tests
  • Premature ovarian failure 14 tests
  • Premature ovarian failure 114 tests
  • Premature ovarian failure 151 test
  • Premature ovarian failure 171 test
  • Premature ovarian failure 31 test
  • Premature ovarian failure 71 test
  • Preterm premature rupture of membranes2 tests
  • Pretibial dystrophic epidermolysis bullosa6 tests
  • Primary CD59 deficiency6 tests
  • Primary ciliary dyskinesia2 tests
  • Primary ciliary dyskinesia 105 tests
  • Primary ciliary dyskinesia 115 tests
  • Primary ciliary dyskinesia 125 tests
  • Primary ciliary dyskinesia 135 tests
  • Primary ciliary dyskinesia 146 tests
  • Primary ciliary dyskinesia 155 tests
  • Primary ciliary dyskinesia 165 tests
  • Primary ciliary dyskinesia 176 tests
  • Primary ciliary dyskinesia 185 tests
  • Primary ciliary dyskinesia 194 tests
  • Primary ciliary dyskinesia 25 tests
  • Primary ciliary dyskinesia 203 tests
  • Primary ciliary dyskinesia 215 tests
  • Primary ciliary dyskinesia 225 tests
  • Primary ciliary dyskinesia 233 tests
  • Primary ciliary dyskinesia 245 tests
  • Primary ciliary dyskinesia 255 tests
  • Primary ciliary dyskinesia 265 tests
  • Primary ciliary dyskinesia 275 tests
  • Primary ciliary dyskinesia 285 tests
  • Primary ciliary dyskinesia 295 tests
  • Primary ciliary dyskinesia 36 tests
  • Primary ciliary dyskinesia 303 tests
  • Primary ciliary dyskinesia 325 tests
  • Primary ciliary dyskinesia 335 tests
  • Primary ciliary dyskinesia 343 tests
  • Primary ciliary dyskinesia 64 tests
  • Primary ciliary dyskinesia 76 tests
  • Primary ciliary dyskinesia 96 tests
  • Primary coenzyme Q10 deficiency 87 tests
  • Primary erythromelalgia3 tests
  • Primary failure of tooth eruption3 tests
  • Primary familial polycythemia due to EPO receptor mutation3 tests
  • Primary hyperoxaluria1 test
  • Primary hyperoxaluria type 34 tests
  • Primary hyperoxaluria, type I6 tests
  • Primary hyperoxaluria, type II5 tests
  • Primary hypomagnesemia6 tests
  • Primary immunodeficiency syndrome due to p14 deficiency3 tests
  • Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency4 tests
  • Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection4 tests
  • Primary myelofibrosis6 tests
  • Primary open angle glaucoma2 tests
  • Primrose syndrome3 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome8 tests
  • Progressive bulbar palsy of childhood9 tests
  • Progressive demyelinating neuropathy with bilateral striatal necrosis7 tests
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency5 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 116 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 24 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 38 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 45 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 55 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 116 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 23 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 310 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 48 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
  • Progressive familial heart block type IB2 tests
  • Progressive familial heart block, type 1A8 tests
  • Progressive familial intrahepatic cholestasis type 12 tests
  • Progressive familial intrahepatic cholestasis type 22 tests
  • Progressive familial intrahepatic cholestasis type 33 tests
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome6 tests
  • Progressive myoclonic epilepsy type 37 tests
  • Progressive myoclonic epilepsy type 67 tests
  • Progressive myoclonic epilepsy type 71 test
  • Progressive myositis ossificans3 tests
  • Progressive osseous heteroplasia9 tests
  • Progressive retinal dystrophy due to retinol transport defect4 tests
  • Progressive scapulohumeroperoneal distal myopathy3 tests
  • Progressive sclerosing poliodystrophy16 tests
  • Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1 test
  • Progressive supranuclear palsy-parkinsonism syndrome3 tests
  • Prolidase deficiency4 tests
  • Proliferative vitreoretinopathy1 test
  • Proline dehydrogenase deficiency5 tests
  • Properdin deficiency, X-linked3 tests
  • Propionic acidemia15 tests
  • Prostate cancer, hereditary, 24 tests
  • Prostate cancer, hereditary, 93 tests
  • Proteasome-associated autoinflammatory syndrome 14 tests
  • Proteasome-associated autoinflammatory syndrome 26 tests
  • Proteasome-associated autoinflammatory syndrome 34 tests
  • Proteasome-associated autoinflammatory syndrome 43 tests
  • Protein-losing enteropathy6 tests
  • Proteinuria, chronic benign7 tests
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis6 tests
  • Proteus syndrome1 test
  • Proteus-like syndrome9 tests
  • Protoporphyria, erythropoietic, 14 tests
  • Protoporphyria, erythropoietic, 23 tests
  • Proximal myopathy with extrapyramidal signs7 tests
  • Proximal symphalangism 1A4 tests
  • Prune belly syndrome2 tests
  • PSAT deficiency7 tests
  • Pseudo von Willebrand disease2 tests
  • Pseudo-Hurler polydystrophy8 tests
  • Pseudo-TORCH syndrome 11 test
  • Pseudo-TORCH syndrome 34 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • Pseudohyperaldosteronism type 22 tests
  • Pseudohypoaldosteronism type 2B2 tests
  • Pseudohypoaldosteronism type 2C4 tests
  • Pseudohypoaldosteronism type 2D2 tests
  • Pseudohypoaldosteronism type 2E3 tests
  • Pseudohypoaldosteronism, type IB2, autosomal recessive1 test
  • Pseudohypoaldosteronism, type IB3, autosomal recessive1 test
  • Pseudohypoparathyroidism1 test
  • Pseudohypoparathyroidism type 1B9 tests
  • Pseudohypoparathyroidism type 1C9 tests
  • Pseudohypoparathyroidism type I A9 tests
  • Pseudopseudohypoparathyroidism9 tests
  • Pseudoxanthoma elasticum, forme fruste3 tests
  • Psoriasis 13, susceptibility to2 tests
  • Psoriasis 23 tests
  • Psoriasis 7, susceptibility to2 tests
  • PTEN hamartoma tumor syndrome13 tests
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency10 tests
  • PULMONARY ALVEOLAR MICROLITHIASIS1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 111 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 313 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 48 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 52 tests
  • Pulmonary hypertension, neonatal, susceptibility to11 tests
  • Pulmonary hypertension, primary, 13 tests
  • Pulmonary hypertension, primary, 23 tests
  • Pulmonary hypertension, primary, 33 tests
  • Pulmonary hypertension, primary, 41 test
  • Pulmonary venoocclusive disease 13 tests
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome4 tests
  • Purine-nucleoside phosphorylase deficiency8 tests
  • PYCR1-related de Barsy syndrome2 tests
  • Pyknodysostosis5 tests
  • Pyle metaphyseal dysplasia2 tests
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome4 tests
  • Pyogenic bacterial infections due to MyD88 deficiency2 tests
  • Pyridoxal phosphate-responsive seizures8 tests
  • Pyridoxine-dependent epilepsy8 tests
  • Pyropoikilocytosis, hereditary2 tests
  • Pyruvate carboxylase deficiency9 tests
  • Pyruvate dehydrogenase E1-alpha deficiency9 tests
  • Pyruvate dehydrogenase E1-beta deficiency8 tests
  • Pyruvate dehydrogenase E2 deficiency6 tests
  • Pyruvate dehydrogenase E3 deficiency16 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency7 tests
  • Pyruvate dehydrogenase phosphatase deficiency7 tests
  • Pyruvate kinase deficiency of red cells2 tests
  • Pyruvate kinase hyperactivity2 tests
  • Question mark ears, isolated1 test
  • RAB23-related Carpenter syndrome5 tests
  • Rabson-Mendenhall syndrome1 test
  • Radial aplasia-thrombocytopenia syndrome4 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 23 tests
  • Rafiq syndrome3 tests
  • Rajab interstitial lung disease with brain calcifications 11 test
  • Rapadilino syndrome7 tests
  • RAPH BLOOD GROUP SYSTEM5 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome7 tests
  • RASopathy3 tests
  • RCBTB1-related retinopathy1 test
  • Recessive dystrophic epidermolysis bullosa6 tests
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome9 tests
  • Recurrent Neisseria infections due to factor D deficiency3 tests
  • Regressive spondylometaphyseal dysplasia1 test
  • Reis-Bucklers' corneal dystrophy1 test
  • Renal carnitine transport defect14 tests
  • Renal coloboma syndrome7 tests
  • Renal cysts and diabetes syndrome9 tests
  • Renal dysplasia and retinal aplasia4 tests
  • Renal dysplasia, cystic, susceptibility to4 tests
  • Renal hamartoma1 test
  • Renal hypodysplasia/aplasia 12 tests
  • Renal hypodysplasia/aplasia 22 tests
  • Renal hypodysplasia/aplasia 32 tests
  • Renal hypomagnesemia 24 tests
  • Renal hypomagnesemia 45 tests
  • Renal hypomagnesemia 5 with ocular involvement6 tests
  • Renal hypomagnesemia 65 tests
  • Renal tubular acidosis with progressive nerve deafness6 tests
  • Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss2 tests
  • Renal tubular acidosis, distal, 4, with hemolytic anemia6 tests
  • Renal tubular dysgenesis2 tests
  • Renal tubular dysgenesis of genetic origin3 tests
  • Renal-hepatic-pancreatic dysplasia 18 tests
  • Renal-hepatic-pancreatic dysplasia 25 tests
  • Renpenning syndrome1 test
  • Respiratory papillomatosis, juvenile recurrent, congenital4 tests
  • Restrictive dermopathy 24 tests
  • Reticular dysgenesis6 tests
  • Retinal arterial tortuosity14 tests
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 42 tests
  • Retinal dystrophy and obesity1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
  • Retinal dystrophy with leukodystrophy5 tests
  • Retinal dystrophy with or without macular staphyloma2 tests
  • Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome2 tests
  • Retinal macular dystrophy type 22 tests
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations12 tests
  • Retinitis pigmentosa14 tests
  • Retinitis pigmentosa 11 test
  • Retinitis pigmentosa 102 tests
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 123 tests
  • Retinitis pigmentosa 132 tests
  • Retinitis pigmentosa 142 tests
  • Retinitis pigmentosa 171 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 193 tests
  • Retinitis pigmentosa 22 tests
  • Retinitis pigmentosa 205 tests
  • Retinitis pigmentosa 2310 tests
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 263 tests
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 282 tests
  • Retinitis pigmentosa 35 tests
  • Retinitis pigmentosa 302 tests
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 321 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 362 tests
  • Retinitis pigmentosa 372 tests
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 396 tests
  • Retinitis pigmentosa 42 tests
  • Retinitis pigmentosa 402 tests
  • Retinitis pigmentosa 412 tests
  • Retinitis pigmentosa 422 tests
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 462 tests
  • Retinitis pigmentosa 472 tests
  • Retinitis pigmentosa 482 tests
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 502 tests
  • Retinitis pigmentosa 516 tests
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 557 tests
  • Retinitis pigmentosa 562 tests
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 598 tests
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 616 tests
  • Retinitis pigmentosa 622 tests
  • Retinitis pigmentosa 662 tests
  • Retinitis pigmentosa 671 test
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 72 tests
  • Retinitis pigmentosa 701 test
  • Retinitis pigmentosa 719 tests
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 7312 tests
  • Retinitis pigmentosa 749 tests
  • Retinitis pigmentosa 751 test
  • Retinitis pigmentosa 7611 tests
  • Retinitis pigmentosa 771 test
  • Retinitis pigmentosa 781 test
  • Retinitis pigmentosa 795 tests
  • Retinitis pigmentosa 804 tests
  • Retinitis pigmentosa 814 tests
  • Retinitis pigmentosa 831 test
  • Retinitis pigmentosa 841 test
  • Retinitis pigmentosa 851 test
  • Retinitis pigmentosa 861 test
  • Retinitis pigmentosa 87 with choroidal involvement5 tests
  • Retinitis pigmentosa 882 tests
  • Retinitis pigmentosa 934 tests
  • Retinitis pigmentosa and erythrocytic microcytosis8 tests
  • Retinitis pigmentosa with or without situs inversus1 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness5 tests
  • Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome3 tests
  • Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
  • Retinoblastoma7 tests
  • Rett syndrome7 tests
  • Rett syndrome, congenital variant5 tests
  • Revesz syndrome8 tests
  • Reynolds syndrome1 test
  • RFT1-congenital disorder of glycosylation3 tests
  • Rh-null, regulator type2 tests
  • Rhabdoid tumor predisposition syndrome 111 tests
  • Rhabdoid tumor predisposition syndrome 214 tests
  • Rhabdomyosarcoma1 test
  • Rhabdomyosarcoma, embryonal, 213 tests
  • Rheumatoid arthritis8 tests
  • Rhizomelic chondrodysplasia punctata1 test
  • Rhizomelic chondrodysplasia punctata type 113 tests
  • Rhizomelic chondrodysplasia punctata type 22 tests
  • Rhizomelic chondrodysplasia punctata type 32 tests
  • Rhizomelic chondrodysplasia punctata type 512 tests
  • RHYNS syndrome9 tests
  • RIDDLE syndrome3 tests
  • Rieger anomaly1 test
  • Rienhoff syndrome5 tests
  • Right atrial isomerism2 tests
  • RIN2 syndrome4 tests
  • Ring dermoid of cornea4 tests
  • Rippling muscle disease 27 tests
  • Risperidone response1 test
  • Ritscher-Schinzel syndrome 12 tests
  • Roberts-SC phocomelia syndrome4 tests
  • Robinow syndrome, autosomal recessive 22 tests
  • Robinow-Sorauf syndrome1 test
  • Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction1 test
  • Roifman syndrome5 tests
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome4 tests
  • Rothmund-Thomson syndrome1 test
  • Rothmund-Thomson syndrome type 24 tests
  • Roussy-Lévy syndrome4 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations8 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency5 tests
  • Saethre-Chotzen syndrome4 tests
  • Saldino-Mainzer syndrome6 tests
  • Salla disease7 tests
  • Sandhoff disease11 tests
  • Sarcoma2 tests
  • Sarcotubular myopathy11 tests
  • Scalp-ear-nipple syndrome2 tests
  • Scapuloperoneal spinal muscular atrophy5 tests
  • Schaaf-Yang syndrome2 tests
  • SchC6pf-Schulz-Passarge syndrome2 tests
  • Schimke immuno-osseous dysplasia8 tests
  • Schinzel phocomelia syndrome1 test
  • Schinzel-Giedion syndrome4 tests
  • Schizencephaly3 tests
  • Schizophrenia10 tests
  • Schizophrenia 44 tests
  • Schneckenbecken dysplasia3 tests
  • Schnyder crystalline corneal dystrophy1 test
  • Schuurs-Hoeijmakers syndrome3 tests
  • Schwannomatosis 114 tests
  • Schwannomatosis 27 tests
  • Schwartz-Jampel syndrome type 11 test
  • Sclerosteosis 11 test
  • Sclerosteosis 25 tests
  • SCOTT SYNDROME2 tests
  • Seckel syndrome 13 tests
  • Seckel syndrome 102 tests
  • Seckel syndrome 22 tests
  • Seckel syndrome 42 tests
  • Seckel syndrome 53 tests
  • Seckel syndrome 62 tests
  • Seckel syndrome 72 tests
  • Seckel syndrome 85 tests
  • Seckel syndrome 91 test
  • Seizures, benign familial infantile, 24 tests
  • Seizures, benign familial infantile, 33 tests
  • Seizures, benign familial infantile, 54 tests
  • Seizures, benign familial neonatal, 13 tests
  • Seizures, benign familial neonatal, 21 test
  • Seizures-scoliosis-macrocephaly syndrome4 tests
  • Sengers syndrome5 tests
  • Senior-Loken syndrome 111 tests
  • Senior-Loken syndrome 47 tests
  • Senior-Loken syndrome 56 tests
  • Senior-Loken syndrome 615 tests
  • Senior-Loken syndrome 710 tests
  • Senior-Loken syndrome 88 tests
  • Senior-Loken syndrome 92 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis17 tests
  • Septo-optic dysplasia sequence5 tests
  • SERKAL syndrome3 tests
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome3 tests
  • Severe combined immunodeficiency due to CARD11 deficiency5 tests
  • Severe combined immunodeficiency due to CARMIL2 deficiency6 tests
  • Severe combined immunodeficiency due to CORO1A deficiency3 tests
  • Severe combined immunodeficiency due to CTPS1 deficiency4 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency8 tests
  • Severe combined immunodeficiency due to DNA-PKcs deficiency4 tests
  • Severe combined immunodeficiency due to IKK2 deficiency4 tests
  • Severe combined immunodeficiency due to LAT deficiency3 tests
  • Severe combined immunodeficiency due to LCK deficiency3 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency12 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive8 tests
  • Severe congenital hypochromic anemia with ringed sideroblasts1 test
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome5 tests
  • Severe early-childhood-onset retinal dystrophy3 tests
  • Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1 test
  • Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome3 tests
  • Severe intellectual disability-progressive spastic diplegia syndrome4 tests
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome6 tests
  • Severe myoclonic epilepsy in infancy4 tests
  • Severe neonatal-onset encephalopathy with microcephaly7 tests
  • Severe neurodegenerative syndrome with lipodystrophy7 tests
  • Severe X-linked mitochondrial encephalomyopathy6 tests
  • Severe X-linked myotubular myopathy5 tests
  • Shashi-Pena syndrome2 tests
  • Short QT syndrome1 test
  • Short QT syndrome type 17 tests
  • Short QT syndrome type 27 tests
  • Short QT syndrome type 39 tests
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans2 tests
  • Short stature due to growth hormone qualitative anomaly1 test
  • Short stature due to growth hormone secretagogue receptor deficiency1 test
  • Short stature due to partial GHR deficiency3 tests
  • Short stature with microcephaly and distinctive facies3 tests
  • Short stature with nonspecific skeletal abnormalities3 tests
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis2 tests
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies1 test
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11 test
  • Short stature, microcephaly, and endocrine dysfunction2 tests
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay4 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 syndrome3 tests
  • Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome6 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
  • SHORT syndrome11 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly10 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly5 tests
  • Short-rib thoracic dysplasia 14 with polydactyly8 tests
  • Short-rib thoracic dysplasia 15 with polydactyly1 test
  • Short-rib thoracic dysplasia 16 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 18 with polydactyly4 tests
  • Short-rib thoracic dysplasia 19 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 20 with polydactyly1 test
  • Short-rib thoracic dysplasia 21 without polydactyly2 tests
  • Short-rib thoracic dysplasia 6 with or without polydactyly4 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
  • Shprintzen-Goldberg syndrome2 tests
  • Shwachman-Diamond syndrome 15 tests
  • Shwachman-Diamond syndrome 25 tests
  • Sialic acid storage disease, severe infantile type6 tests
  • Sialidosis type 25 tests
  • Sialuria8 tests
  • Sick sinus syndrome 18 tests
  • Sick sinus syndrome 2, autosomal dominant7 tests
  • Sick sinus syndrome 3, susceptibility to1 test
  • Sideroblastic anemia 23 tests
  • Sideroblastic anemia 38 tests
  • Sifrim-Hitz-Weiss syndrome2 tests
  • Silver-Russell syndrome 11 test
  • Silver-Russell syndrome 31 test
  • Simpson-Golabi-Behmel syndrome type 112 tests
  • Simpson-Golabi-Behmel syndrome type 211 tests
  • Simvastatin response1 test
  • SIN3A-related intellectual disability syndrome due to a point mutation2 tests
  • Singleton-Merten syndrome 18 tests
  • Singleton-Merten syndrome 23 tests
  • Sinoatrial node dysfunction and deafness6 tests
  • Sitosterolemia 15 tests
  • Sitosterolemia 25 tests
  • Sjögren-Larsson syndrome7 tests
  • Skeletal dysplasia, mild, with joint laxity and advanced bone age3 tests
  • Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome2 tests
  • SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES6 tests
  • SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN6 tests
  • SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN2 tests
  • Skin/hair/eye pigmentation, variation in, 114 tests
  • Skin/hair/eye pigmentation, variation in, 41 test
  • Skin/hair/eye pigmentation, variation in, 54 tests
  • Skin/hair/eye pigmentation, variation in, 83 tests
  • SLC35A1-congenital disorder of glycosylation2 tests
  • SLC35A2-congenital disorder of glycosylation4 tests
  • SLC39A8-CDG6 tests
  • Small cell lung carcinoma6 tests
  • Small fiber neuropathy1 test
  • Smith-Lemli-Opitz syndrome13 tests
  • Smith-Magenis syndrome4 tests
  • Smith-McCort dysplasia 11 test
  • Smith-McCort dysplasia 21 test
  • Smoking as a quantitative trait locus 32 tests
  • Sneddon syndrome6 tests
  • Snowflake vitreoretinal degeneration1 test
  • Sodium serum level quantitative trait locus 15 tests
  • Solitary median maxillary central incisor syndrome3 tests
  • Soluble interleukin-6 receptor, serum level of, quantitative trait locus4 tests
  • Somatotroph adenoma3 tests
  • Sorsby fundus dystrophy2 tests
  • Sotos syndrome7 tests
  • Southeast Asian ovalocytosis6 tests
  • Spastic ataxia 14 tests
  • Spastic ataxia 23 tests
  • Spastic ataxia 33 tests
  • Spastic ataxia 42 tests
  • Spastic ataxia 52 tests
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2 tests
  • Spastic paraplegia 52, autosomal recessive3 tests
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity4 tests
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome3 tests
  • Spastic tetraplegia and axial hypotonia, progressive2 tests
  • Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4 tests
  • Spasticity-ataxia-gait anomalies syndrome8 tests
  • Specific granule deficiency 14 tests
  • Specific granule deficiency 24 tests
  • Specific language impairment 51 test
  • Spermatogenic failure 183 tests
  • Spermatogenic failure 273 tests
  • Spermatogenic failure 281 test
  • Spermatogenic failure 462 tests
  • Spermatogenic failure 581 test
  • Spermatogenic failure 721 test
  • Spermatogenic failure 81 test
  • Spermatogenic failures 501 test
  • Sphingolipid activator protein 1 deficiency6 tests
  • Sphingomyelin/cholesterol lipidosis2 tests
  • Spinal muscular atrophy3 tests
  • Spinal muscular atrophy with congenital bone fractures 12 tests
  • Spinal muscular atrophy with congenital bone fractures 22 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant4 tests
  • Spinal muscular atrophy, type II8 tests
  • Spinal muscular atrophy, type IV8 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome11 tests
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1 test
  • Spinocerebellar ataxia 432 tests
  • Spinocerebellar ataxia 441 test
  • Spinocerebellar ataxia 451 test
  • Spinocerebellar ataxia 461 test
  • Spinocerebellar ataxia 481 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar ataxia type 15/164 tests
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 251 test
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 282 tests
  • Spinocerebellar ataxia type 294 tests
  • Spinocerebellar ataxia type 345 tests
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 381 test
  • Spinocerebellar ataxia type 404 tests
  • Spinocerebellar ataxia type 411 test
  • Spinocerebellar ataxia type 421 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 66 tests
  • Spinocerebellar ataxia, autosomal recessive 242 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
  • Split hand-foot malformation 11 test
  • Split hand-foot malformation 1 with sensorineural hearing loss1 test
  • Split hand-foot malformation 47 tests
  • Split hand-foot malformation 62 tests
  • Split-foot malformation-mesoaxial polydactyly syndrome4 tests
  • Sponastrime dysplasia3 tests
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylo-ocular syndrome4 tests
  • Spondylocarpotarsal synostosis syndrome2 tests
  • Spondylocostal dysostosis 1, autosomal recessive3 tests
  • Spondylocostal dysostosis 2, autosomal recessive3 tests
  • Spondylocostal dysostosis 3, autosomal recessive4 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondylocostal dysostosis 52 tests
  • Spondylocostal dysostosis 6, autosomal recessive2 tests
  • Spondyloenchondrodysplasia with immune dysregulation5 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures5 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 31 test
  • Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
  • Spondyloepimetaphyseal dysplasia, aggrecan type2 tests
  • Spondyloepimetaphyseal dysplasia, Bieganski type6 tests
  • Spondyloepimetaphyseal dysplasia, Genevieve type4 tests
  • Spondyloepimetaphyseal dysplasia, Maroteaux type5 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type3 tests
  • Spondyloepimetaphyseal dysplasia, Shohat type1 test
  • Spondyloepimetaphyseal dysplasia, Strudwick type3 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
  • Spondyloepiphyseal dysplasia congenita5 tests
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondyloepiphyseal dysplasia tarda, X-linked1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations4 tests
  • Spondyloepiphyseal dysplasia with metatarsal shortening5 tests
  • Spondyloepiphyseal dysplasia, Kimberley type2 tests
  • Spondyloepiphyseal dysplasia, kondo-fu type2 tests
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis1 test
  • Spondyloepiphyseal dysplasia, Stanescu type5 tests
  • Spondylometaphyseal dysplasia2 tests
  • Spondylometaphyseal dysplasia - Sutcliffe type8 tests
  • Spondylometaphyseal dysplasia, Kozlowski type5 tests
  • Spondylometaphyseal dysplasia, Sedaghatian type1 test
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloperipheral dysplasia5 tests
  • Spongiform encephalopathy with neuropsychiatric features2 tests
  • Spongy degeneration of central nervous system11 tests
  • SRD5A3-congenital disorder of glycosylation4 tests
  • SSR4-congenital disorder of glycosylation3 tests
  • Stapes ankylosis with broad thumbs and toes4 tests
  • Stargardt disease 35 tests
  • Stargardt disease 42 tests
  • STAT3-related early-onset multisystem autoimmune disease11 tests
  • Steatocystoma multiplex2 tests
  • Steel syndrome2 tests
  • Sterile multifocal osteomyelitis with periostitis and pustulosis4 tests
  • Sterol carrier protein 2 deficiency6 tests
  • Stickler syndrome type 15 tests
  • Stickler syndrome type 25 tests
  • Stickler syndrome, type 45 tests
  • Stickler syndrome, type 55 tests
  • Stickler syndrome, type I, nonsyndromic ocular5 tests
  • Stiff skin syndrome8 tests
  • Stormorken syndrome9 tests
  • Striatal degeneration, autosomal dominant 21 test
  • Striatonigral degeneration, childhood-onset4 tests
  • Structural brain anomalies with impaired intellectual development and craniosynostosis2 tests
  • STT3A-congenital disorder of glycosylation2 tests
  • STT3B-congenital disorder of glycosylation2 tests
  • Stuttering, familial persistent, 13 tests
  • Stüve-Wiedemann syndrome 12 tests
  • Succinate-semialdehyde dehydrogenase deficiency9 tests
  • Succinyl-CoA acetoacetate transferase deficiency7 tests
  • Sucrase-isomaltase deficiency6 tests
  • Sudden cardiac failure, alcohol-induced4 tests
  • Sudden cardiac failure, infantile4 tests
  • SUDDEN INFANT DEATH SYNDROME9 tests
  • Sudden infant death-dysgenesis of the testes syndrome1 test
  • Sulfite oxidase deficiency5 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A9 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B8 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C10 tests
  • Sulfocysteinuria1 test
  • Supranuclear palsy, progressive, 13 tests
  • Supravalvar aortic stenosis3 tests
  • Surfactant metabolism dysfunction, pulmonary, 12 tests
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 45 tests
  • Surfactant metabolism dysfunction, pulmonary, 55 tests
  • Susceptibility to HIV infection5 tests
  • Susceptibility to mononeuropathy of the median nerve, mild4 tests
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation3 tests
  • Sweeney-Cox syndrome1 test
  • Symmetrical dyschromatosis of extremities8 tests
  • Symphalangism, proximal, 1B3 tests
  • Symphalangism-brachydactyly syndrome4 tests
  • Syndactyly type 310 tests
  • Syndactyly type 41 test
  • Syndactyly type 51 test
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
  • Syndromic microphthalmia type 54 tests
  • Syndromic multisystem autoimmune disease due to ITCH deficiency4 tests
  • Syndromic X-linked intellectual disability 142 tests
  • Syndromic X-linked intellectual disability 342 tests
  • Syndromic X-linked intellectual disability 943 tests
  • Syndromic X-linked intellectual disability Claes-Jensen type3 tests
  • Syndromic X-linked intellectual disability Hedera type6 tests
  • Syndromic X-linked intellectual disability Lubs type6 tests
  • Syndromic X-linked intellectual disability Najm type4 tests
  • Syndromic X-linked intellectual disability Nascimento type1 test
  • Syndromic X-linked intellectual disability Raymond type2 tests
  • Syndromic X-linked intellectual disability Snyder type1 test
  • Synpolydactyly1 test
  • Synpolydactyly type 21 test
  • Systemic lupus erythematosus17 tests
  • Systemic lupus erythematosus, susceptibility to, 113 tests
  • Systemic lupus erythematosus, susceptibility to, 94 tests
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency5 tests
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy4 tests
  • T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant4 tests
  • Tacrolimus response1 test
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome3 tests
  • Tangier disease2 tests
  • TARP syndrome2 tests
  • Tarsal-carpal coalition syndrome4 tests
  • Tatton-Brown-Rahman overgrowth syndrome5 tests
  • Tay-Sachs disease20 tests
  • Tay-Sachs disease, B variant, adult form1 test
  • Tay-Sachs disease, variant AB7 tests
  • Teebi hypertelorism syndrome1 test
  • Telangiectasia, hereditary hemorrhagic, type 15 tests
  • Telangiectasia, hereditary hemorrhagic, type 25 tests
  • Telangiectasia, hereditary hemorrhagic, type 54 tests
  • TELO2-related intellectual disability-neurodevelopmental disorder1 test
  • Temple-Baraitser syndrome2 tests
  • Temtamy preaxial brachydactyly syndrome3 tests
  • Temtamy syndrome3 tests
  • Tenorio syndrome1 test
  • Terminal osseous dysplasia-pigmentary defects syndrome9 tests
  • Testicular anomalies with or without congenital heart disease5 tests
  • Testosterone 17-beta-dehydrogenase deficiency2 tests
  • Tetraamelia syndrome 12 tests
  • Tetraamelia syndrome 21 test
  • Tetralogy of Fallot22 tests
  • Tetrasomy 9p1 test
  • TFRC-related combined immunodeficiency5 tests
  • Thanatophoric dysplasia type 13 tests
  • Thanatophoric dysplasia, type 23 tests
  • Thiel-Behnke corneal dystrophy1 test
  • Thrombocythemia 13 tests
  • Thrombocythemia 26 tests
  • Thrombocythemia 32 tests
  • Thrombocytopenia 114 tests
  • Thrombocytopenia 23 tests
  • Thrombocytopenia 43 tests
  • Thrombocytopenia 53 tests
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia9 tests
  • Thrombomodulin-related bleeding disorder6 tests
  • Thrombophilia due to activated protein C resistance4 tests
  • Thrombophilia due to protein C deficiency, autosomal dominant5 tests
  • Thrombophilia due to protein C deficiency, autosomal recessive5 tests
  • Thrombophilia due to protein S deficiency, autosomal dominant5 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive5 tests
  • Thrombophilia due to thrombin defect14 tests
  • Thrombophilia, X-linked, due to factor 9 defect6 tests
  • Thyroid cancer, nonmedullary, 13 tests
  • Thyroid cancer, nonmedullary, 210 tests
  • Thyroid dyshormonogenesis 66 tests
  • Thyroid gland carcinoma1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 19 tests
  • Tibia, hypoplasia or aplasia of, with polydactyly1 test
  • Tibial muscular dystrophy13 tests
  • Tietz syndrome5 tests
  • Timothy syndrome9 tests
  • TMEM165-congenital disorder of glycosylation5 tests
  • TMEM199-CDG3 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)4 tests
  • Tobacco addiction, susceptibility to9 tests
  • Tooth agenesis, selective, 11 test
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 42 tests
  • Tooth agenesis, selective, 72 tests
  • Tooth agenesis, selective, 82 tests
  • Tooth agenesis, selective, X-linked, 12 tests
  • Toriello-Lacassie-Droste syndrome7 tests
  • Torsion dystonia 22 tests
  • Torsion dystonia 44 tests
  • Torsion dystonia 62 tests
  • Townes-Brocks syndrome 14 tests
  • Tracheoesophageal fistula1 test
  • Tramadol response1 test
  • Transcobalamin II deficiency12 tests
  • Transferrin serum level quantitative trait locus 24 tests
  • Transient bullous dermolysis of the newborn6 tests
  • Transient infantile hypertriglyceridemia and hepatosteatosis1 test
  • Transposition of the great arteries, dextro-looped4 tests
  • Treacher Collins syndrome 12 tests
  • Treacher Collins syndrome 22 tests
  • Treacher Collins syndrome 33 tests
  • Tremor, hereditary essential, 44 tests
  • Trichohepatoenteric syndrome 16 tests
  • Trichohepatoenteric syndrome 26 tests
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome3 tests
  • Trichorhinophalangeal dysplasia type I4 tests
  • Trichorhinophalangeal syndrome, type III4 tests
  • Trichothiodystrophy 1, photosensitive8 tests
  • Trichothiodystrophy 2, photosensitive4 tests
  • Trichothiodystrophy 3, photosensitive4 tests
  • Trichothiodystrophy 4, nonphotosensitive4 tests
  • Trichothiodystrophy 5, nonphotosensitive3 tests
  • Trichothiodystrophy 6, nonphotosensitive3 tests
  • Triglyceride storage disease with ichthyosis5 tests
  • Trigonocephaly 16 tests
  • Trigonocephaly 24 tests
  • Trimethylaminuria3 tests
  • Triosephosphate isomerase deficiency4 tests
  • Trisomy 10p1 test
  • Trisomy 12p1 test
  • Trisomy 17p1 test
  • Trisomy 183 tests
  • Trisomy 81 test
  • Trisomy 8p1 test
  • Trisomy 8q1 test
  • Trisomy X syndrome1 test
  • Troyer syndrome4 tests
  • Tuberous sclerosis 118 tests
  • Tuberous sclerosis 218 tests
  • Tuberous sclerosis syndrome7 tests
  • Tumor predisposition syndrome 38 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 15 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 23 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 32 tests
  • Turner syndrome2 tests
  • Turnpenny-fry syndrome3 tests
  • TWIST1-related craniosynostosis2 tests
  • Type 1 diabetes mellitus 107 tests
  • Type 1 diabetes mellitus 128 tests
  • Type 1 diabetes mellitus 21 test
  • Type 1 diabetes mellitus 207 tests
  • Type 2 diabetes mellitus25 tests
  • Type A2 brachydactyly3 tests
  • Type I complement component 8 deficiency3 tests
  • Type II complement component 8 deficiency3 tests
  • Tyrosinase-negative oculocutaneous albinism6 tests
  • Tyrosinase-positive oculocutaneous albinism6 tests
  • Tyrosinemia type I13 tests
  • Tyrosinemia type II6 tests
  • Tyrosinemia type III3 tests
  • UDPglucose-4-epimerase deficiency5 tests
  • Ullrich congenital muscular dystrophy 1A7 tests
  • Ullrich congenital muscular dystrophy 27 tests
  • Ulnar-mammary syndrome2 tests
  • Unverricht-Lundborg syndrome2 tests
  • Upshaw-Schulman syndrome6 tests
  • Urinary bladder carcinoma2 tests
  • Urinary bladder, atony of2 tests
  • Urinary tract neoplasm1 test
  • Urofacial syndrome type 13 tests
  • Uruguay Faciocardiomusculoskeletal syndrome10 tests
  • Usher syndrome type 14 tests
  • Usher syndrome type 1C4 tests
  • Usher syndrome type 1D6 tests
  • Usher syndrome type 1F6 tests
  • Usher syndrome type 1G3 tests
  • Usher syndrome type 1J3 tests
  • Usher syndrome type 2A7 tests
  • Usher syndrome type 2C4 tests
  • Usher syndrome type 2D3 tests
  • Usher syndrome type 3A6 tests
  • Usher syndrome type 3B1 test
  • Usher syndrome, type 1M1 test
  • Usher syndrome, type 43 tests
  • Uterine leiomyoma1 test
  • UV-sensitive syndrome 14 tests
  • UV-sensitive syndrome 24 tests
  • Uveal coloboma-cleft lip and palate-intellectual disability1 test
  • VACTERL association, X-linked, with or without hydrocephalus7 tests
  • VACTERL with hydrocephalus1 test
  • Van Buchem disease type 22 tests
  • Van der Woude syndrome 12 tests
  • Van der Woude syndrome 21 test
  • Van Maldergem syndrome 11 test
  • Van Maldergem syndrome 28 tests
  • Vanishing white matter disease4 tests
  • Variegate porphyria8 tests
  • Vasculitis due to ADA2 deficiency6 tests
  • Velocardiofacial syndrome9 tests
  • Venlafaxine response1 test
  • Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome3 tests
  • Ventricular fibrillation, paroxysmal familial, type 18 tests
  • Ventricular septal defect 15 tests
  • Ventricular septal defect 36 tests
  • Ventriculomegaly and arthrogryposis1 test
  • Ventriculomegaly-cystic kidney disease4 tests
  • Verapamil response1 test
  • Very long chain acyl-CoA dehydrogenase deficiency16 tests
  • Vesicoureteral reflux 22 tests
  • Vesicoureteral reflux 33 tests
  • VEXAS syndrome2 tests
  • Vibratory urticaria2 tests
  • Vici syndrome6 tests
  • Visceral myopathy 24 tests
  • Vissers-Bodmer syndrome2 tests
  • Vitamin D hydroxylation-deficient rickets, type 1B4 tests
  • Vitamin D-dependent rickets type II with alopecia5 tests
  • Vitamin D-dependent rickets, type 1A6 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
  • Vitelliform macular dystrophy 22 tests
  • Vitelliform macular dystrophy 31 test
  • Vitelliform macular dystrophy 42 tests
  • Vitelliform macular dystrophy 52 tests
  • Vitiligo-associated multiple autoimmune disease susceptibility 14 tests
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia3 tests
  • Von Hippel-Lindau syndrome15 tests
  • Waardenburg syndrome type 12 tests
  • Waardenburg syndrome type 2A5 tests
  • Waardenburg syndrome type 2D2 tests
  • Waardenburg syndrome type 2E4 tests
  • Waardenburg syndrome type 32 tests
  • Waardenburg syndrome type 4A3 tests
  • Waardenburg syndrome type 4B2 tests
  • Waardenburg syndrome type 4C4 tests
  • Wagner syndrome3 tests
  • Warburg micro syndrome 14 tests
  • Warburg micro syndrome 25 tests
  • Warburg micro syndrome 32 tests
  • Warburg micro syndrome 42 tests
  • Warburg-cinotti syndrome1 test
  • Warfarin response1 test
  • Warfarin sensitivity, X-linked6 tests
  • Warsaw breakage syndrome1 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
  • Weaver syndrome4 tests
  • Weill-Marchesani 4 syndrome, recessive1 test
  • Weill-Marchesani syndrome 14 tests
  • Weill-Marchesani syndrome 2, dominant8 tests
  • Weill-Marchesani syndrome 34 tests
  • Welander distal myopathy2 tests
  • Werdnig-Hoffmann disease8 tests
  • Werner syndrome5 tests
  • WHIM syndrome 15 tests
  • Wieacker-Wolff syndrome2 tests
  • Wieacker-Wolff syndrome, female-restricted2 tests
  • Wiedemann-Steiner syndrome8 tests
  • Williams syndrome3 tests
  • Wilms tumor 126 tests
  • Wilson disease21 tests
  • Winchester syndrome2 tests
  • Wiskott-Aldrich syndrome13 tests
  • Wiskott-Aldrich syndrome 25 tests
  • Wolcott-Rallison dysplasia7 tests
  • Wolff-Parkinson-White pattern8 tests
  • Wolfram syndrome 16 tests
  • Wolfram syndrome 23 tests
  • Wolfram-like syndrome6 tests
  • Woodhouse-Sakati syndrome7 tests
  • Woolly hair-skin fragility syndrome7 tests
  • Wooly hair, autosomal recessive 31 test
  • Wooly hair-palmoplantar keratoderma syndrome5 tests
  • Worth disease6 tests
  • Wrinkly skin syndrome4 tests
  • X-linked acrogigantism due to Xq26 microduplication1 test
  • X-linked agammaglobulinemia9 tests
  • X-linked agammaglobulinemia with growth hormone deficiency9 tests
  • X-linked Alport syndrome6 tests
  • X-linked chondrodysplasia punctata 11 test
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
  • X-linked complicated corpus callosum dysgenesis7 tests
  • X-linked cone-rod dystrophy 15 tests
  • X-linked cone-rod dystrophy 32 tests
  • X-linked distal spinal muscular atrophy type 313 tests
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia9 tests
  • X-linked dystonia-parkinsonism3 tests
  • X-linked Emery-Dreifuss muscular dystrophy8 tests
  • X-linked erythropoietic protoporphyria8 tests
  • X-linked hydrocephalus syndrome7 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia9 tests
  • X-linked intellectual disability Cabezas type5 tests
  • X-linked intellectual disability with marfanoid habitus7 tests
  • X-linked intellectual disability, Cantagrel type2 tests
  • X-linked intellectual disability, van Esch type5 tests
  • X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome6 tests
  • X-linked lissencephaly with abnormal genitalia9 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency9 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency8 tests
  • X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency7 tests
  • X-linked mixed hearing loss with perilymphatic gusher7 tests
  • X-linked myopathy with excessive autophagy5 tests
  • X-linked myopathy with postural muscle atrophy10 tests
  • X-linked Opitz G/BBB syndrome3 tests
  • X-linked parkinsonism-spasticity syndrome6 tests
  • X-linked recessive nephrolithiasis with renal failure6 tests
  • X-linked reticulate pigmentary disorder5 tests
  • X-linked scapuloperoneal muscular dystrophy10 tests
  • X-linked severe combined immunodeficiency9 tests
  • X-linked severe congenital neutropenia14 tests
  • X-linked sideroblastic anemia 18 tests
  • X-linked sideroblastic anemia with ataxia4 tests
  • X-linked spondyloepimetaphyseal dysplasia3 tests
  • Xanthinuria type II4 tests
  • Xeroderma pigmentosum group A1 test
  • Xeroderma pigmentosum group B4 tests
  • Xeroderma pigmentosum variant type1 test
  • Xeroderma pigmentosum, group C3 tests
  • Xeroderma pigmentosum, group D8 tests
  • Xeroderma pigmentosum, group F3 tests
  • Xeroderma pigmentosum, group G1 test
  • XFE progeroid syndrome3 tests
  • Yao syndrome5 tests
  • Yunis-Varon syndrome7 tests
  • Zimmermann-Laband syndrome 12 tests
  • ZTTK syndrome4 tests

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