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GTR Home > Laboratories > CEN4GEN Institute for Genomics and Molecular Diagnostics

CEN4GEN Institute for Genomics and Molecular Diagnostics

GTR Lab ID: 506436, Last updated:2022-12-05

Personnel

  • Director: Deepak Kamnasaran, PhD, Lab Director
    Phone: +1 844-236-4436
    Fax: +1 587-329-9566
    Email: contact@cen4gen.org

Conditions and tests

  • 11p partial monosomy syndrome2 tests
  • 2-aminoadipic 2-oxoadipic aciduria1 test
  • 2-hydroxyglutaric aciduria1 test
  • 3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
  • 3-M syndrome1 test
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
  • 3-methylglutaconic aciduria type 11 test
  • 3-Methylglutaconic aciduria type 23 tests
  • 3-Methylglutaconic aciduria type 31 test
  • 3-methylglutaconic aciduria type 51 test
  • 3-methylglutaconic aciduria type 81 test
  • 3-methylglutaconic aciduria type 91 test
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia1 test
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 3MC syndrome 31 test
  • 46, XY sex reversal 111 test
  • 46,XX ovarian dysgenesis-short stature syndrome1 test
  • 46,XX sex reversal 41 test
  • 46,XY disorder of sex development1 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 11 test
  • 46,XY sex reversal 21 test
  • 46,XY sex reversal 31 test
  • 46,XY sex reversal 51 test
  • 46,XY sex reversal 61 test
  • 46,XY sex reversal 72 tests
  • 46,XY sex reversal 91 test
  • 5-Oxoprolinase deficiency1 test
  • Aarskog syndrome2 tests
  • ABCD syndrome1 test
  • Abdominal obesity-metabolic syndrome 31 test
  • Abetalipoproteinaemia1 test
  • Ablepharon macrostomia syndrome1 test
  • Abortive cerebellar ataxia1 test
  • ABri amyloidosis1 test
  • Abruzzo-Erickson syndrome1 test
  • Acampomelic campomelic dysplasia1 test
  • Acatalasemia, japanese type1 test
  • Acetyl-CoA: carboxylase deficiency1 test
  • Acheiropodia1 test
  • Achondrogenesis type II1 test
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB1 test
  • Achondroplasia1 test
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Achromatopsia 61 test
  • Achromatopsia 71 test
  • Acid phosphatase deficiency1 test
  • Acne inversa, familial, 11 test
  • Acne inversa, familial, 21 test
  • Acne inversa, familial, 31 test
  • Acral peeling skin syndrome1 test
  • Acro-dermato-ungual-lacrimal-tooth (adult) syndrome1 test
  • Acrocallosal syndrome2 tests
  • Acrocapitofemoral dysplasia1 test
  • Acrocephalosyndactyly type I1 test
  • Acrodysostosis 1 with or without hormone resistance1 test
  • Acrodysostosis 2 with or without hormone resistance1 test
  • Acrofacial dysostosis Cincinnati type1 test
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromelic frontonasal dysostosis1 test
  • Acromesomelic dysplasia 1, Maroteaux type1 test
  • Acromesomelic dysplasia 2C, Hunter-Thompson type1 test
  • Acromesomelic dysplasia 31 test
  • Acromicric dysplasia1 test
  • ACTH-independent macronodular adrenal hyperplasia 11 test
  • ACTH-independent macronodular adrenal hyperplasia 21 test
  • Action myoclonus-renal failure syndrome1 test
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
  • Acute lymphoid leukemia1 test
  • Acyl-CoA dehydrogenase 9 deficiency1 test
  • Adams-Oliver syndrome 11 test
  • Adams-Oliver syndrome 21 test
  • Adams-Oliver syndrome 31 test
  • Adams-Oliver syndrome 41 test
  • Adams-Oliver syndrome 51 test
  • Adams-Oliver syndrome 61 test
  • ADan amyloidosis1 test
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenomatous polyposis coli, attenuated1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adermatoglyphia1 test
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
  • Adrenoleukodystrophy1 test
  • Adrenomyeloneuropathy, adult1 test
  • Adult i phenotype without cataract1 test
  • ADULT syndrome1 test
  • Adult-onset foveomacular vitelliform dystrophy1 test
  • Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency1 test
  • Advanced sleep phase syndrome 11 test
  • Advanced sleep phase syndrome 21 test
  • Advanced sleep phase syndrome 31 test
  • Agammaglobulinemia 2, autosomal recessive1 test
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 5, autosomal dominant1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Agammaglobulinemia 8, autosomal dominant1 test
  • Age related macular degeneration 11 test
  • Age related macular degeneration 111 test
  • Age related macular degeneration 121 test
  • Age related macular degeneration 141 test
  • Age related macular degeneration 151 test
  • Age related macular degeneration 21 test
  • Age related macular degeneration 41 test
  • Age related macular degeneration 51 test
  • Age related macular degeneration 61 test
  • Age related macular degeneration 71 test
  • Age related macular degeneration 91 test
  • Age-related macular degeneration1 test
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1 test
  • Agenesis of the corpus callosum with peripheral neuropathy3 tests
  • Agnathia-otocephaly complex1 test
  • AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1 test
  • AICA-ribosiduria1 test
  • Aicardi-Goutieres syndrome 11 test
  • Aicardi-Goutieres syndrome 21 test
  • Aicardi-Goutieres syndrome 31 test
  • Aicardi-Goutieres syndrome 41 test
  • Aicardi-Goutieres syndrome 51 test
  • Aicardi-Goutieres syndrome 61 test
  • Aicardi-Goutieres syndrome 71 test
  • Aicardi-Goutieres syndrome 81 test
  • Aicardi-Goutieres syndrome 91 test
  • Al Kaissi syndrome1 test
  • Al-Gazali syndrome1 test
  • Al-Raqad syndrome1 test
  • Alacrima, achalasia, and intellectual disability syndrome1 test
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Alagille syndrome due to a NOTCH2 point mutation1 test
  • Alazami-Yuan syndrome1 test
  • Alcohol sensitivity, acute1 test
  • ALDH18A1-related de Barsy syndrome1 test
  • aldo-keto reductase deficiency1 test
  • Alexander disease1 test
  • ALG1-congenital disorder of glycosylation1 test
  • ALG11-congenital disorder of glycosylation1 test
  • ALG12-congenital disorder of glycosylation1 test
  • ALG2-congenital disorder of glycosylation1 test
  • ALG3-congenital disorder of glycosylation1 test
  • ALG6-congenital disorder of glycosylation 1C1 test
  • ALG8 congenital disorder of glycosylation1 test
  • ALG9 congenital disorder of glycosylation1 test
  • Alkaptonuria1 test
  • Alkuraya-Kucinskas syndrome1 test
  • Allan-Herndon-Dudley syndrome1 test
  • Alopecia - intellectual disability syndrome1 test
  • Alopecia universalis2 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha-1-antichymotrypsin deficiency1 test
  • Alpha-2-plasmin inhibitor deficiency1 test
  • Alpha-fetoprotein deficiency1 test
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alpha-thalassemia/intellectual disability syndrome1 test
  • Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome1 test
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 21 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment1 test
  • ALZAHRANI-KUWAHARA SYNDROME1 test
  • Alzheimer disease 21 test
  • Alzheimer disease 31 test
  • Alzheimer disease 41 test
  • Alzheimer disease type 11 test
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia1 test
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques1 test
  • AMED syndrome, digenic1 test
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta hypomaturation type 2A21 test
  • Amelogenesis imperfecta hypomaturation type 2A31 test
  • Amelogenesis imperfecta hypomaturation type 2A41 test
  • Amelogenesis imperfecta hypomaturation type 2A51 test
  • Amelogenesis imperfecta type 1A1 test
  • Amelogenesis imperfecta type 1C1 test
  • Amelogenesis imperfecta type 1E1 test
  • Amelogenesis imperfecta type 1F1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amelogenesis imperfecta type 1H1 test
  • Amelogenesis imperfecta type 2A11 test
  • Amelogenesis imperfecta type 3B1 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amelogenesis imperfecta, hypomaturation type, IIa61 test
  • Amelogenesis imperfecta, type 1J1 test
  • Amelogenesis imperfecta, type 3c1 test
  • Aminoacylase 1 deficiency1 test
  • Amish lethal microcephaly1 test
  • Amyloidogenic transthyretin amyloidosis2 tests
  • Amyloidosis, 3 or more types1 test
  • Amyloidosis, primary localized cutaneous, 11 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyloidosis, primary localized cutaneous, 31 test
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic lateral sclerosis 10, with or without FTD1 test
  • Amyotrophic lateral sclerosis 132 tests
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 121 test
  • Amyotrophic lateral sclerosis type 151 test
  • Amyotrophic lateral sclerosis type 161 test
  • Amyotrophic lateral sclerosis type 181 test
  • Amyotrophic lateral sclerosis type 191 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 201 test
  • Amyotrophic lateral sclerosis type 211 test
  • Amyotrophic lateral sclerosis type 221 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 51 test
  • Amyotrophic lateral sclerosis type 61 test
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic lateral sclerosis, susceptibility to2 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 241 test
  • Amyotrophic lateral sclerosis, susceptibility to, 251 test
  • Amyotrophic neuralgia1 test
  • Amytrophic lateral sclerosis 231 test
  • Analbuminemia1 test
  • Anaphylotoxin inactivator deficiency1 test
  • Anauxetic dysplasia 11 test
  • Anauxetic dysplasia 21 test
  • Andersen Tawil syndrome1 test
  • Androgen resistance syndrome2 tests
  • Anencephaly 11 test
  • Anencephaly 21 test
  • Aneurysm, intracranial berry, 121 test
  • Aneurysm-osteoarthritis syndrome1 test
  • Angelman syndrome1 test
  • Angioedema, hereditary, 1 and 21 test
  • Angioedema, hereditary, 41 test
  • Angioedema, hereditary, 51 test
  • Angioedema, hereditary, 61 test
  • Angioedema, hereditary, 71 test
  • Angioedema, hereditary, 81 test
  • Aniridia 21 test
  • Aniridia 31 test
  • Anonychia2 tests
  • Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
  • Anterior segment anomalies with or without cataract1 test
  • ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES1 test
  • Anterior segment dysgenesis 31 test
  • Anterior segment dysgenesis 41 test
  • ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES1 test
  • Anterior segment dysgenesis 61 test
  • Anterior segment dysgenesis 71 test
  • Anterior segment dysgenesis 81 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Antley-Bixley syndrome with disordered steroidogenesis1 test
  • Aortic aneurysm, familial thoracic 101 test
  • Aortic aneurysm, familial thoracic 11, susceptibility to1 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic aneurysm, familial thoracic 91 test
  • Aortic valve disease 11 test
  • Aortic valve disease 21 test
  • Aplasia cutis congenita1 test
  • Aplastic anemia2 tests
  • Apolipoprotein A-II deficiency1 test
  • Apolipoprotein c-III deficiency1 test
  • Apparent mineralocorticoid excess1 test
  • Arginase deficiency1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Aromatase deficiency1 test
  • Aromatase excess syndrome1 test
  • Arrhinia with choanal atresia and microphthalmia syndrome1 test
  • Arrhythmogenic right ventricular dysplasia 11 test
  • Arrhythmogenic right ventricular dysplasia 101 test
  • Arrhythmogenic right ventricular dysplasia 111 test
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair1 test
  • Arrhythmogenic right ventricular dysplasia 121 test
  • Arrhythmogenic right ventricular dysplasia 131 test
  • Arrhythmogenic right ventricular dysplasia 21 test
  • Arrhythmogenic right ventricular dysplasia 51 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Arterial calcification, generalized, of infancy, 12 tests
  • Arterial calcification, generalized, of infancy, 21 test
  • Arterial tortuosity syndrome1 test
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect1 test
  • Arthrogryposis multiplex congenita 3, myogenic type1 test
  • Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum1 test
  • Arthrogryposis multiplex congenita 51 test
  • Arthrogryposis multiplex congenita 61 test
  • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development1 test
  • Arthrogryposis, distal, type 1A1 test
  • Arthrogryposis, distal, type 1B1 test
  • Arthrogryposis, distal, type 2B21 test
  • Arthrogryposis, distal, type 2B31 test
  • Arthrogryposis, distal, type 2B41 test
  • Arthrogryposis, renal dysfunction, and cholestasis 12 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 22 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Arts syndrome2 tests
  • Aspartylglucosaminuria1 test
  • Asperger syndrome, X-linked, susceptibility to, 11 test
  • Asperger syndrome, X-linked, susceptibility to, 21 test
  • Asphyxiating thoracic dystrophy 21 test
  • Asphyxiating thoracic dystrophy 31 test
  • Asphyxiating thoracic dystrophy 41 test
  • Asphyxiating thoracic dystrophy 51 test
  • Asthma and nasal polyps1 test
  • Ataxia - oculomotor apraxia type 41 test
  • Ataxia with oculomotor apraxia type 31 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
  • ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET1 test
  • Ataxia-hypogonadism-choroidal dystrophy syndrome2 tests
  • Ataxia-pancytopenia syndrome1 test
  • Ataxia-telangiectasia syndrome1 test
  • Ataxia-telangiectasia-like disorder 11 test
  • Ataxia-telangiectasia-like disorder 21 test
  • Ateleiotic dwarfism1 test
  • Atelosteogenesis type I2 tests
  • Atelosteogenesis type II1 test
  • Atelosteogenesis type III2 tests
  • Atransferrinemia1 test
  • Atrial conduction disease1 test
  • Atrial fibrillation, familial, 101 test
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 141 test
  • Atrial fibrillation, familial, 151 test
  • Atrial fibrillation, familial, 162 tests
  • Atrial fibrillation, familial, 172 tests
  • Atrial fibrillation, familial, 181 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 91 test
  • Atrial septal defect 21 test
  • Atrial septal defect 31 test
  • Atrial septal defect 41 test
  • Atrial septal defect 51 test
  • Atrial septal defect 61 test
  • Atrial septal defect 71 test
  • Atrial septal defect 81 test
  • Atrial septal defect 91 test
  • Atrial standstill 11 test
  • Atrial standstill 21 test
  • Atrichia with papular lesions1 test
  • Atrioventricular septal defect 31 test
  • Atrioventricular septal defect 41 test
  • Atrioventricular septal defect 51 test
  • Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
  • Atrioventricular septal defect, susceptibility to, 21 test
  • Atrophia bulborum hereditaria2 tests
  • Atypical glycine encephalopathy3 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with C3 anomaly1 test
  • Atypical hemolytic-uremic syndrome with I factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
  • Auditory neuropathy, autosomal recessive, 12 tests
  • Aural atresia, congenital1 test
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 31 test
  • Autism spectrum disorder due to AUTS2 deficiency1 test
  • Autism susceptibility, X-linked 21 test
  • Autism, susceptibility to, 151 test
  • Autism, susceptibility to, 161 test
  • Autism, susceptibility to, 171 test
  • Autism, susceptibility to, 181 test
  • Autism, susceptibility to, 191 test
  • Autism, susceptibility to, 51 test
  • Autism, susceptibility to, X-linked 11 test
  • Autism, susceptibility to, X-linked 31 test
  • Autism, susceptibility to, X-linked 41 test
  • Autism, susceptibility to, X-linked 51 test
  • Autoimmune disease, multisystem, infantile-onset, 21 test
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1 test
  • Autoimmune lymphoproliferative syndrome type 2A1 test
  • Autoimmune lymphoproliferative syndrome, type 1a1 test
  • Autoimmune lymphoproliferative syndrome, type 1b1 test
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia1 test
  • Autoinflammation with arthritis and dyskeratosis1 test
  • Autoinflammation with episodic fever and lymphadenopathy1 test
  • Autoinflammation, immune dysregulation, and eosinophilia1 test
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
  • Autoinflammatory syndrome with immunodeficiency1 test
  • Autoinflammatory syndrome, familial, Behcet-like1 test
  • Autonomic nervous system dysfunction1 test
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant aplasia and myelodysplasia1 test
  • Autosomal dominant auditory neuropathy 11 test
  • Autosomal dominant centronuclear myopathy1 test
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
  • Autosomal dominant Charcot-Marie-Tooth disease type 2M1 test
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
  • Autosomal dominant deafness - onychodystrophy syndrome1 test
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
  • Autosomal dominant hypocalcemia1 test
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant hypophosphatemic rickets1 test
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2 tests
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant Kenny-Caffey syndrome1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
  • Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1 test
  • Autosomal dominant mitochondrial myopathy with exercise intolerance1 test
  • 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 51 test
  • Autosomal dominant nonsyndromic hearing loss 11 test
  • Autosomal dominant nonsyndromic hearing loss 101 test
  • Autosomal dominant nonsyndromic hearing loss 111 test
  • Autosomal dominant nonsyndromic hearing loss 121 test
  • Autosomal dominant nonsyndromic hearing loss 131 test
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant nonsyndromic hearing loss 201 test
  • Autosomal dominant nonsyndromic hearing loss 221 test
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 281 test
  • Autosomal dominant nonsyndromic hearing loss 2A1 test
  • Autosomal dominant nonsyndromic hearing loss 2B1 test
  • Autosomal dominant nonsyndromic hearing loss 361 test
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 3B1 test
  • Autosomal dominant nonsyndromic hearing loss 401 test
  • Autosomal dominant nonsyndromic hearing loss 411 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 4A1 test
  • Autosomal dominant nonsyndromic hearing loss 4B1 test
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 501 test
  • Autosomal dominant nonsyndromic hearing loss 561 test
  • Autosomal dominant nonsyndromic hearing loss 62 tests
  • Autosomal dominant nonsyndromic hearing loss 641 test
  • Autosomal dominant nonsyndromic hearing loss 651 test
  • Autosomal dominant nonsyndromic hearing loss 661 test
  • Autosomal dominant nonsyndromic hearing loss 671 test
  • Autosomal dominant nonsyndromic hearing loss 681 test
  • Autosomal dominant nonsyndromic hearing loss 691 test
  • Autosomal dominant nonsyndromic hearing loss 701 test
  • Autosomal dominant nonsyndromic hearing loss 92 tests
  • Autosomal dominant Opitz G/BBB syndrome1 test
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant osteopetrosis 11 test
  • Autosomal dominant osteopetrosis 21 test
  • Autosomal dominant Parkinson disease 11 test
  • Autosomal dominant Parkinson disease 41 test
  • Autosomal dominant Parkinson disease 81 test
  • Autosomal dominant Robinow syndrome 11 test
  • Autosomal dominant Robinow syndrome 21 test
  • Autosomal dominant Robinow syndrome 31 test
  • Autosomal dominant sensory ataxia 11 test
  • Autosomal dominant sideroblastic anemia1 test
  • Autosomal dominant slowed nerve conduction velocity1 test
  • Autosomal recessive agammaglobulinemia 11 test
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive amelia1 test
  • Autosomal recessive ataxia due to ubiquinone deficiency2 tests
  • Autosomal recessive ataxia, Beauce type2 tests
  • Autosomal recessive bestrophinopathy1 test
  • Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency1 test
  • Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
  • Autosomal recessive complex spastic paraplegia type 9B1 test
  • Autosomal recessive congenital ichthyosis 11 test
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 111 test
  • Autosomal recessive congenital ichthyosis 21 test
  • Autosomal recessive congenital ichthyosis 31 test
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B1 test
  • 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 2B1 test
  • Autosomal recessive cutis laxa type 2C1 test
  • Autosomal recessive cutis laxa type 2D1 test
  • Autosomal recessive distal spinal muscular atrophy 21 test
  • Autosomal recessive DOPA responsive dystonia3 tests
  • Autosomal recessive dyskeratosis congenita 41 test
  • Autosomal recessive early-onset Parkinson disease 231 test
  • Autosomal recessive early-onset Parkinson disease 63 tests
  • Autosomal recessive early-onset Parkinson disease 71 test
  • Autosomal recessive juvenile Parkinson disease 21 test
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2I2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2K2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2M2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2R11 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2T2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2W2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2X1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type R181 test
  • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency1 test
  • Autosomal recessive nonsyndromic hearing loss 1011 test
  • Autosomal recessive nonsyndromic hearing loss 1021 test
  • Autosomal recessive nonsyndromic hearing loss 1031 test
  • Autosomal recessive nonsyndromic hearing loss 1041 test
  • Autosomal recessive nonsyndromic hearing loss 121 test
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 161 test
  • Autosomal recessive nonsyndromic hearing loss 18A1 test
  • Autosomal recessive nonsyndromic hearing loss 18B1 test
  • Autosomal recessive nonsyndromic hearing loss 1A1 test
  • Autosomal recessive nonsyndromic hearing loss 1B1 test
  • Autosomal recessive nonsyndromic hearing loss 21 test
  • Autosomal recessive nonsyndromic hearing loss 211 test
  • Autosomal recessive nonsyndromic hearing loss 221 test
  • Autosomal recessive nonsyndromic hearing loss 231 test
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 251 test
  • Autosomal recessive nonsyndromic hearing loss 261 test
  • Autosomal recessive nonsyndromic hearing loss 281 test
  • Autosomal recessive nonsyndromic hearing loss 291 test
  • Autosomal recessive nonsyndromic hearing loss 31 test
  • Autosomal recessive nonsyndromic hearing loss 301 test
  • Autosomal recessive nonsyndromic hearing loss 311 test
  • Autosomal recessive nonsyndromic hearing loss 321 test
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 371 test
  • Autosomal recessive nonsyndromic hearing loss 391 test
  • Autosomal recessive nonsyndromic hearing loss 41 test
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 441 test
  • Autosomal recessive nonsyndromic hearing loss 481 test
  • Autosomal recessive nonsyndromic hearing loss 491 test
  • Autosomal recessive nonsyndromic hearing loss 531 test
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Autosomal recessive nonsyndromic hearing loss 61 test
  • Autosomal recessive nonsyndromic hearing loss 611 test
  • Autosomal recessive nonsyndromic hearing loss 631 test
  • Autosomal recessive nonsyndromic hearing loss 661 test
  • Autosomal recessive nonsyndromic hearing loss 671 test
  • Autosomal recessive nonsyndromic hearing loss 681 test
  • Autosomal recessive nonsyndromic hearing loss 71 test
  • Autosomal recessive nonsyndromic hearing loss 701 test
  • Autosomal recessive nonsyndromic hearing loss 741 test
  • Autosomal recessive nonsyndromic hearing loss 761 test
  • Autosomal recessive nonsyndromic hearing loss 771 test
  • Autosomal recessive nonsyndromic hearing loss 791 test
  • Autosomal recessive nonsyndromic hearing loss 81 test
  • Autosomal recessive nonsyndromic hearing loss 84A1 test
  • Autosomal recessive nonsyndromic hearing loss 84B1 test
  • Autosomal recessive nonsyndromic hearing loss 862 tests
  • Autosomal recessive nonsyndromic hearing loss 881 test
  • Autosomal recessive nonsyndromic hearing loss 891 test
  • Autosomal recessive nonsyndromic hearing loss 91 test
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Autosomal recessive nonsyndromic hearing loss 931 test
  • Autosomal recessive nonsyndromic hearing loss 971 test
  • Autosomal recessive nonsyndromic hearing loss 981 test
  • Autosomal recessive optic atrophy, OPA7 type1 test
  • Autosomal recessive osteopetrosis 11 test
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 41 test
  • Autosomal recessive osteopetrosis 51 test
  • Autosomal recessive osteopetrosis 61 test
  • Autosomal recessive osteopetrosis 71 test
  • Autosomal recessive osteopetrosis 81 test
  • Autosomal recessive Parkinson disease 141 test
  • Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity1 test
  • Autosomal recessive Robinow syndrome2 tests
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1 test
  • Autosomal recessive spastic paraplegia type 761 test
  • Autosomal recessive spastic paraplegia type 781 test
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Autosomal recessive spinocerebellar ataxia 111 test
  • Autosomal recessive spinocerebellar ataxia 121 test
  • Autosomal recessive spinocerebellar ataxia 131 test
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 151 test
  • Autosomal recessive spinocerebellar ataxia 161 test
  • Autosomal recessive spinocerebellar ataxia 171 test
  • Autosomal recessive spinocerebellar ataxia 181 test
  • Autosomal recessive spinocerebellar ataxia 21 test
  • Autosomal recessive spinocerebellar ataxia 201 test
  • Autosomal recessive spinocerebellar ataxia 71 test
  • Autosomal recessive woolly hair 1, with or without hypotrichosis1 test
  • Avascular necrosis of femoral head, primary, 11 test
  • Avascular necrosis of femoral head, primary, 21 test
  • Avellino corneal dystrophy1 test
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 31 test
  • Ayme-Gripp syndrome1 test
  • Azoospermia1 test
  • Azoospermia, obstructive, with nephrolithiasis1 test
  • Azorean disease2 tests
  • B-cell non-Hodgkin lymphoma, high-grade1 test
  • B4GALT1-congenital disorder of glycosylation2 tests
  • Baller-Gerold syndrome1 test
  • Bamforth-Lazarus syndrome1 test
  • Band heterotopia of brain1 test
  • BAP1 Cancer Syndrome1 test
  • Baraitser-Winter syndrome1 test
  • Baraitser-Winter syndrome 11 test
  • Baraitser-winter syndrome 21 test
  • Baralle-Macken syndrome1 test
  • Barber-Say syndrome1 test
  • Bardet-Biedl syndrome 11 test
  • Bardet-Biedl syndrome 1, modifier of1 test
  • Bardet-Biedl syndrome 101 test
  • Bardet-Biedl syndrome 111 test
  • Bardet-Biedl syndrome 121 test
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 141 test
  • Bardet-Biedl syndrome 14, modifier of1 test
  • Bardet-Biedl syndrome 151 test
  • Bardet-Biedl syndrome 161 test
  • Bardet-Biedl syndrome 171 test
  • Bardet-Biedl syndrome 181 test
  • Bardet-Biedl syndrome 191 test
  • Bardet-Biedl syndrome 21 test
  • Bardet-biedl syndrome 211 test
  • Bardet-Biedl syndrome 221 test
  • Bardet-Biedl syndrome 31 test
  • Bardet-Biedl syndrome 41 test
  • Bardet-Biedl syndrome 51 test
  • Bardet-Biedl syndrome 61 test
  • Bardet-Biedl syndrome 71 test
  • Bardet-Biedl syndrome 81 test
  • Bardet-Biedl syndrome 91 test
  • Bare lymphocyte syndrome type 2, complementation group A1 test
  • Bare lymphocyte syndrome type 2, complementation group E1 test
  • Bare lymphocyte syndrome, type II, complementation group c1 test
  • Bare Lymphocyte Syndrome, Type II, Complementation Group D1 test
  • Barrett esophagus/esophageal adenocarcinoma1 test
  • BARTSOCAS-PAPAS SYNDROME 21 test
  • Bartter disease type 11 test
  • Bartter disease type 21 test
  • Bartter disease type 31 test
  • Bartter disease type 4a1 test
  • Bartter disease type 4B1 test
  • Bartter disease type 51 test
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 51 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive1 test
  • Basal laminar drusen1 test
  • Basan syndrome1 test
  • Basilicata-Akhtar syndrome1 test
  • Batten-Turner congenital myopathy2 tests
  • Beare-Stevenson cutis gyrata syndrome2 tests
  • Beck-Fahrner syndrome1 test
  • Becker muscular dystrophy1 test
  • Beckwith-Wiedemann syndrome1 test
  • Benign hereditary chorea2 tests
  • Benign neonatal seizures4 tests
  • Benign recurrent intrahepatic cholestasis type 11 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • BENTA disease1 test
  • Bernard-Soulier syndrome type C2 tests
  • Bernard-Soulier syndrome, type A1 (recessive)2 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • Bernard-Soulier syndrome, type B2 tests
  • Beta-2-adrenoreceptor agonist, reduced response to1 test
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
  • Bethlem myopathy 12 tests
  • Bethlem myopathy 22 tests
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Bilateral microtia-deafness-cleft palate syndrome1 test
  • Bilateral parasagittal parieto-occipital polymicrogyria1 test
  • Bile acid conjugation defect 11 test
  • Bile acid malabsorption, primary1 test
  • BILE ACID MALABSORPTION, PRIMARY, 21 test
  • Biliary, renal, neurologic, and skeletal syndrome1 test
  • Biotin-responsive basal ganglia disease2 tests
  • Biotinidase deficiency1 test
  • Birk-Barel syndrome1 test
  • Blau syndrome1 test
  • Bleeding diathesis due to thromboxane synthesis deficiency1 test
  • Bleeding disorder, platelet-type, 211 test
  • Blepharocheilodontic syndrome 11 test
  • Blepharocheilodontic syndrome 21 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome2 tests
  • BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME1 test
  • Blistering, acantholytic, of oral and laryngeal mucosa1 test
  • Bloom syndrome3 tests
  • Blue color blindness1 test
  • BNAR syndrome1 test
  • Bohring-Opitz syndrome1 test
  • Bone marrow failure syndrome 31 test
  • Bone marrow failure syndrome 41 test
  • Bone marrow failure syndrome 51 test
  • Boomerang dysplasia2 tests
  • Borjeson-Forssman-Lehmann syndrome2 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
  • Bosley-Salih-Alorainy syndrome1 test
  • Bothnia retinal dystrophy1 test
  • Boudin-Mortier syndrome1 test
  • Bowen-Conradi syndrome1 test
  • Brachycephaly, trichomegaly, and developmental delay1 test
  • Brachydactyly type A11 test
  • Brachydactyly type A1C1 test
  • Brachydactyly type A1D1 test
  • Brachydactyly type A21 test
  • Brachydactyly type B11 test
  • Brachydactyly type B21 test
  • Brachydactyly type C1 test
  • Brachydactyly type D1 test
  • Brachydactyly type E1 test
  • Brachydactyly type E21 test
  • Brachydactyly-syndactyly syndrome1 test
  • Brachyolmia-amelogenesis imperfecta syndrome1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia1 test
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis1 test
  • Brain small vessel disease 1 with or without ocular anomalies1 test
  • Brain small vessel disease 31 test
  • Brain tumor-polyposis syndrome 22 tests
  • Brain-lung-thyroid syndrome1 test
  • Branched-chain keto acid dehydrogenase kinase deficiency1 test
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome 11 test
  • Branchiootorenal (BOR) syndrome1 test
  • Branchiootorenal Spectrum Disorders1 test
  • Breast neoplasm1 test
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Brittle cornea syndrome 12 tests
  • Brittle cornea syndrome 22 tests
  • Brody myopathy1 test
  • Bronchiectasis with or without elevated sweat chloride 11 test
  • Bronchiectasis with or without elevated sweat chloride 1, modifier of1 test
  • Bronchiectasis with or without elevated sweat chloride 21 test
  • Bronchiectasis with or without elevated sweat chloride 31 test
  • Brooke-Spiegler syndrome1 test
  • Brown-Vialetto-van Laere syndrome 11 test
  • Brown-Vialetto-van Laere syndrome 21 test
  • Bruck syndrome 11 test
  • Bruck syndrome 21 test
  • Brugada syndrome 11 test
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 51 test
  • Brugada syndrome 61 test
  • Brugada syndrome 72 tests
  • Brugada syndrome 81 test
  • Brugada syndrome 91 test
  • Brunner syndrome1 test
  • BURATTI-HAREL SYNDROME1 test
  • C syndrome1 test
  • C1 inhibitor deficiency1 test
  • C1Q deficiency1 test
  • C3 deficiency1 test
  • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia1 test
  • Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome)1 test
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
  • Camptomelic dysplasia2 tests
  • Camptosynpolydactyly, complex1 test
  • CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA1 test
  • Candidiasis, familial, 61 test
  • Candidiasis, familial, 81 test
  • Candidiasis, familial, 91 test
  • Cap myopathy 12 tests
  • Cap myopathy 22 tests
  • Capillary malformation-arteriovenous malformation 14 tests
  • Capillary malformation-arteriovenous malformation 22 tests
  • CARASIL syndrome2 tests
  • Cardiac arrhythmia, ankyrin-B-related2 tests
  • Cardiac conduction defect, nonspecific2 tests
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1 test
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardiac, facial, and digital anomalies with developmental delay1 test
  • Cardiac-urogenital syndrome1 test
  • Cardio-facio-cutaneous syndrome1 test
  • Cardioacrofacial dysplasia 11 test
  • Cardioacrofacial dysplasia 21 test
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiofaciocutaneous syndrome 31 test
  • Cardiofaciocutaneous syndrome 41 test
  • Cardiofacioneurodevelopmental syndrome1 test
  • Cardiomyopathy1 test
  • Cardiomyopathy, dilated, 1AA, with or without LVNC2 tests
  • Cardiomyopathy, familial hypertrophic 271 test
  • Cardiomyopathy, familial restrictive, 11 test
  • Cardiomyopathy, familial restrictive, 31 test
  • Cardiomyopathy, familial restrictive, 43 tests
  • Cardiomyopathy, familial restrictive, 52 tests
  • Cardiomyopathy, hypertrophic, 1, digenic1 test
  • Cardiomyopathy, hypertrophic, 223 tests
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC2 tests
  • Cardiomyopathy, hypertrophic, 243 tests
  • Cardiospondylocarpofacial syndrome1 test
  • Carney complex - trismus - pseudocamptodactyly syndrome1 test
  • Carney complex, type 11 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyl transferase 1A deficiency1 test
  • Carnitine palmitoyl transferase II deficiency, myopathic form1 test
  • Carnitine palmitoyl transferase II deficiency, neonatal form1 test
  • Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
  • Carotid intimal medial thickness 11 test
  • Carpal tunnel syndrome 11 test
  • Carpal tunnel syndrome 21 test
  • Carpenter syndrome1 test
  • Cat eye syndrome1 test
  • Cataract 1 multiple types1 test
  • Cataract 10 multiple types1 test
  • Cataract 11 multiple types1 test
  • Cataract 11, syndromic, autosomal recessive1 test
  • Cataract 12 multiple types1 test
  • Cataract 13 with adult I phenotype1 test
  • Cataract 14 multiple types1 test
  • Cataract 15 multiple types1 test
  • Cataract 16 multiple types1 test
  • Cataract 17 multiple types1 test
  • Cataract 181 test
  • Cataract 19 multiple types1 test
  • Cataract 2, multiple types1 test
  • Cataract 20 multiple types1 test
  • Cataract 21 multiple types1 test
  • Cataract 22 multiple types1 test
  • Cataract 231 test
  • Cataract 3 multiple types1 test
  • Cataract 301 test
  • Cataract 31 multiple types1 test
  • Cataract 331 test
  • Cataract 34 multiple types1 test
  • Cataract 361 test
  • Cataract 381 test
  • Cataract 39 multiple types1 test
  • Cataract 4 multiple types1 test
  • Cataract 401 test
  • Cataract 411 test
  • Cataract 421 test
  • Cataract 431 test
  • Cataract 441 test
  • Cataract 451 test
  • Cataract 46 juvenile-onset1 test
  • Cataract 481 test
  • Cataract 5 multiple types1 test
  • Cataract 6 multiple types1 test
  • Cataract 9 multiple types1 test
  • Cataract with late-onset corneal dystrophy1 test
  • Catecholaminergic polymorphic ventricular tachycardia 11 test
  • Catecholaminergic polymorphic ventricular tachycardia 21 test
  • Catecholaminergic polymorphic ventricular tachycardia 31 test
  • Catecholaminergic polymorphic ventricular tachycardia 41 test
  • Catecholaminergic polymorphic ventricular tachycardia 52 tests
  • Catel-Manzke syndrome1 test
  • Catifa syndrome1 test
  • Caudal duplication1 test
  • Caudal regression syndrome1 test
  • Cavernous malformations of CNS and retina1 test
  • Cayman type cerebellar ataxia1 test
  • CBX2-related complete gonadal dysgenesis1 test
  • CCDC115-CDG2 tests
  • CEBALID syndrome1 test
  • Celiac disease1 test
  • Celiac disease, susceptibility to1 test
  • Celiac disease, susceptibility to, 31 test
  • Celiac disease, susceptibility to, 41 test
  • Cenani-Lenz syndactyly syndrome1 test
  • Centra precocious puberty 11 test
  • Central core myopathy1 test
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung1 test
  • Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction1 test
  • Central hypoventilation syndrome, congenital, 31 test
  • Centronuclear myopathy, autosomal, modifier of1 test
  • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome1 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
  • Cerebellar ataxia-hypogonadism syndrome2 tests
  • Cerebellar atrophy with seizures and variable developmental delay1 test
  • Cerebellar atrophy, developmental delay, and seizures1 test
  • Cerebellar atrophy, visual impairment, and psychomotor retardation;1 test
  • Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome1 test
  • Cerebellar, ocular, craniofacial, and genital syndrome1 test
  • Cerebellar-facial-dental syndrome1 test
  • Cerebral amyloid angiopathy1 test
  • Cerebral amyloid angiopathy, APP-related1 test
  • CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
  • Cerebral cavernous malformation 11 test
  • Cerebral cavernous malformation 21 test
  • Cerebral cavernous malformation 31 test
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma1 test
  • Cerebral palsy, spastic quadriplegic, 22 tests
  • Cerebral palsy, spastic quadriplegic, 32 tests
  • Cerebro-costo-mandibular syndrome1 test
  • Cerebrofaciothoracic dysplasia1 test
  • Cerebrofrontofacial syndrome type 11 test
  • Cerebrofrontofacial syndrome type 31 test
  • Cerebrooculofacioskeletal syndrome 11 test
  • Cerebrooculofacioskeletal syndrome 21 test
  • Cerebrooculofacioskeletal syndrome 31 test
  • Cerebrooculofacioskeletal syndrome 41 test
  • Cerebroretinal microangiopathy with calcifications and cysts 21 test
  • Cerebrovascular disease, occlusive1 test
  • Ceroid lipofuscinosis, neuronal, 4, Parry type1 test
  • Ceroid lipofuscinosis, neuronal, 6A1 test
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset1 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease axonal type 2C2 tests
  • Charcot-Marie-Tooth disease axonal type 2CC1 test
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2K1 test
  • Charcot-Marie-Tooth disease axonal type 2L1 test
  • Charcot-Marie-Tooth disease axonal type 2N1 test
  • Charcot-Marie-Tooth disease axonal type 2O1 test
  • Charcot-Marie-Tooth disease axonal type 2P1 test
  • Charcot-Marie-Tooth disease axonal type 2Q1 test
  • Charcot-Marie-Tooth disease axonal type 2S1 test
  • Charcot-Marie-Tooth disease axonal type 2T1 test
  • Charcot-Marie-Tooth disease axonal type 2U1 test
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease axonal type 2X1 test
  • Charcot-Marie-Tooth disease axonal type 2Z1 test
  • Charcot-Marie-Tooth disease dominant intermediate B1 test
  • Charcot-Marie-Tooth disease dominant intermediate C1 test
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease dominant intermediate E1 test
  • Charcot-Marie-Tooth disease dominant intermediate F1 test
  • Charcot-Marie-Tooth disease recessive intermediate A2 tests
  • Charcot-Marie-Tooth disease recessive intermediate B1 test
  • Charcot-Marie-Tooth disease recessive intermediate C1 test
  • Charcot-Marie-Tooth disease recessive intermediate D1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 1C1 test
  • Charcot-Marie-Tooth disease type 1D1 test
  • Charcot-Marie-Tooth disease type 1E1 test
  • Charcot-Marie-Tooth disease type 1F1 test
  • Charcot-Marie-Tooth disease type 21 test
  • Charcot-Marie-Tooth disease type 2A11 test
  • Charcot-Marie-Tooth disease type 2A21 test
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2D1 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2R1 test
  • Charcot-Marie-Tooth disease type 2Y1 test
  • Charcot-Marie-Tooth disease type 4A1 test
  • Charcot-Marie-Tooth disease type 4B11 test
  • Charcot-Marie-Tooth disease type 4B21 test
  • Charcot-Marie-Tooth disease type 4B31 test
  • Charcot-Marie-Tooth disease type 4C1 test
  • Charcot-Marie-Tooth disease type 4D1 test
  • Charcot-Marie-Tooth disease type 4F1 test
  • Charcot-Marie-Tooth disease type 4G1 test
  • Charcot-Marie-Tooth disease type 4H1 test
  • Charcot-Marie-Tooth disease type 4J1 test
  • Charcot-Marie-Tooth disease type 4K1 test
  • Charcot-Marie-Tooth disease X-linked dominant 61 test
  • Charcot-Marie-Tooth disease X-linked recessive 42 tests
  • Charcot-Marie-Tooth disease X-linked recessive 51 test
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
  • Charcot-marie-tooth disease, axonal, type 2DD1 test
  • Charcot-Marie-Tooth disease, axonal, type 2EE1 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1G1 test
  • Charcot-Marie-Tooth disease, dominant intermediate G1 test
  • Charcot-Marie-Tooth disease, type 1a, autosomal recessive1 test
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 11 test
  • CHARGE association3 tests
  • Charlevoix-Saguenay spastic ataxia1 test
  • Chilblain lupus 11 test
  • Chilblain lupus 21 test
  • Child syndrome1 test
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
  • Childhood Myocerebrohepatopathy Spectrum Disorders1 test
  • Childhood onset GLUT1 deficiency syndrome 22 tests
  • CHIME syndrome1 test
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
  • Cholestanol storage disease1 test
  • Cholestasis, progressive familial intrahepatic, 41 test
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Cholesteryl ester storage disease1 test
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Chondrodysplasia with joint dislocations, gPAPP type1 test
  • Chondrosarcoma1 test
  • CHOPRA-AMIEL-GORDON SYNDROME1 test
  • Chorea, childhood-onset, with psychomotor retardation1 test
  • Chorea-acanthocytosis1 test
  • Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress1 test
  • Choroidal dystrophy, central areolar 21 test
  • Choroidal dystrophy, central areolar, 11 test
  • Choroideremia1 test
  • Christianson syndrome1 test
  • Chromosome 1p32-p31 deletion syndrome1 test
  • Chromosome 5q14.3 deletion syndrome1 test
  • Chronic atrial and intestinal dysrhythmia1 test
  • Chronic granulomatous disease due to deficiency of NCF-11 test
  • Chronic granulomatous disease due to deficiency of NCF-21 test
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic myelogenous leukemia, BCR-ABL1 positive1 test
  • Chudley-McCullough syndrome1 test
  • Chuvash polycythemia1 test
  • Chylomicron retention disease1 test
  • Ch├ędiak-Higashi syndrome1 test
  • CIDEC-related familial partial lipodystrophy1 test
  • Ciliary dyskinesia, primary, 36, X-linked1 test
  • Ciliary dyskinesia, primary, 371 test
  • Ciliary dyskinesia, primary, 381 test
  • Ciliary dyskinesia, primary, 391 test
  • Ciliary dyskinesia, primary, 401 test
  • Ciliary dyskinesia, primary, 411 test
  • Cirrhosis, cryptogenic1 test
  • Citrullinemia1 test
  • Citrullinemia, type II, adult-onset1 test
  • CK syndrome1 test
  • Clark-Baraitser syndrome1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Cleft lip/palate-ectodermal dysplasia syndrome2 tests
  • Cleft palate with ankyloglossia1 test
  • Cleft palate, proliferative retinopathy, and developmental delay1 test
  • Cleidocranial dysostosis1 test
  • Cleidocranial dysplasia, forme fruste, dental anomalies only1 test
  • Cleidocranial dysplasia, forme fruste, with brachydactyly1 test
  • Clubfoot1 test
  • COACH syndrome 11 test
  • COACH syndrome 21 test
  • COACH syndrome 31 test
  • Coats plus syndrome1 test
  • Cobblestone lissencephaly without muscular or ocular involvement1 test
  • Cockayne syndrome type 11 test
  • Cockayne syndrome type 21 test
  • Cocoon syndrome1 test
  • CODAS syndrome1 test
  • Coenzyme Q10 deficiency1 test
  • Coenzyme Q10 deficiency, primary, 11 test
  • Coenzyme Q10 deficiency, primary, 31 test
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome 12 tests
  • Coffin-Siris syndrome 52 tests
  • Coffin-Siris syndrome 62 tests
  • Coffin-Siris syndrome 72 tests
  • Coffin-Siris syndrome 82 tests
  • COG1 congenital disorder of glycosylation2 tests
  • COG4-congenital disorder of glycosylation2 tests
  • COG5-congenital disorder of glycosylation2 tests
  • COG6-ongenital disorder of glycosylation2 tests
  • COG7 congenital disorder of glycosylation2 tests
  • COG8-congenital disorder of glycosylation2 tests
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1 test
  • Cognitive impairment with or without cerebellar ataxia1 test
  • Cohen syndrome1 test
  • Cohen-Gibson syndrome1 test
  • Cold-induced sweating syndrome 11 test
  • Cold-induced sweating syndrome 21 test
  • Cole-Carpenter syndrome 11 test
  • Cole-Carpenter syndrome 21 test
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
  • Colorectal cancer3 tests
  • Combined ApoA-I and ApoC-III deficiency1 test
  • Combined C6/C7 deficiency1 test
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
  • Combined immunodeficiency due to CD3gamma deficiency1 test
  • Combined immunodeficiency due to DOCK8 deficiency1 test
  • Combined immunodeficiency due to GINS1 deficiency1 test
  • Combined immunodeficiency due to LRBA deficiency1 test
  • Combined immunodeficiency due to MALT1 deficiency1 test
  • Combined immunodeficiency due to moesin deficiency1 test
  • Combined immunodeficiency due to ORAI1 deficiency1 test
  • Combined immunodeficiency due to OX40 deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency1 test
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined immunodeficiency with faciooculoskeletal anomalies1 test
  • Combined immunodeficiency with skin granulomas1 test
  • Combined immunodeficiency, X-linked, moderate2 tests
  • Combined malonic and methylmalonic acidemia1 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
  • Combined oxidative phosphorylation defect type 111 test
  • Combined oxidative phosphorylation defect type 131 test
  • Combined oxidative phosphorylation defect type 141 test
  • Combined oxidative phosphorylation defect type 151 test
  • Combined oxidative phosphorylation defect type 171 test
  • Combined oxidative phosphorylation defect type 21 test
  • Combined oxidative phosphorylation defect type 201 test
  • Combined oxidative phosphorylation defect type 211 test
  • Combined oxidative phosphorylation defect type 231 test
  • Combined oxidative phosphorylation defect type 241 test
  • Combined oxidative phosphorylation defect type 251 test
  • Combined oxidative phosphorylation defect type 261 test
  • Combined oxidative phosphorylation defect type 271 test
  • Combined oxidative phosphorylation defect type 301 test
  • Combined oxidative phosphorylation defect type 41 test
  • Combined oxidative phosphorylation defect type 71 test
  • Combined oxidative phosphorylation defect type 81 test
  • Combined oxidative phosphorylation defect type 91 test
  • Combined oxidative phosphorylation deficiency 191 test
  • Combined oxidative phosphorylation deficiency 221 test
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 291 test
  • Combined oxidative phosphorylation deficiency 321 test
  • 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 371 test
  • Combined oxidative phosphorylation deficiency 381 test
  • Combined oxidative phosphorylation deficiency 391 test
  • Combined pituitary hormone deficiencies, genetic form1 test
  • COMMON Syndrome1 test
  • Complement component 2 deficiency1 test
  • Complement component 4a deficiency1 test
  • Complement component 4b deficiency1 test
  • Complement component 5 deficiency1 test
  • Complement component 6 deficiency1 test
  • Complement component 7 deficiency1 test
  • Complement component 9 deficiency1 test
  • Complement component C1s deficiency1 test
  • Complex cortical dysplasia with other brain malformations 11 test
  • Complex cortical dysplasia with other brain malformations 21 test
  • Complex cortical dysplasia with other brain malformations 31 test
  • Complex cortical dysplasia with other brain malformations 41 test
  • Complex cortical dysplasia with other brain malformations 51 test
  • Complex cortical dysplasia with other brain malformations 61 test
  • Complex cortical dysplasia with other brain malformations 71 test
  • Compton-North congenital myopathy1 test
  • Cone dystrophy 31 test
  • Cone dystrophy 41 test
  • Cone monochromatism2 tests
  • Cone-rod dystrophy1 test
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 162 tests
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 21 test
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 211 test
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 61 test
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy and hearing loss 11 test
  • Cone-rod dystrophy and hearing loss 21 test
  • Cone-rod synaptic disorder syndrome, congenital nonprogressive1 test
  • Cone-rod synaptic disorder, congenital nonprogressive1 test
  • Congenital absence of salivary gland1 test
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
  • Congenital adrenal hypoplasia1 test
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2 tests
  • Congenital afibrinogenemia1 test
  • Congenital aniridia1 test
  • Congenital anomalies of kidney and urinary tract 11 test
  • Congenital anomalies of kidney and urinary tract 21 test
  • Congenital anomalies of kidney and urinary tract 31 test
  • Congenital bilateral absence of vas deferens1 test
  • Congenital bile acid synthesis defect 11 test
  • Congenital bile acid synthesis defect 21 test
  • Congenital bile acid synthesis defect 31 test
  • Congenital bile acid synthesis defect 41 test
  • Congenital bile acid synthesis defect 52 tests
  • Congenital bile acid synthesis defect 61 test
  • Congenital cataract-hearing loss-severe developmental delay syndrome1 test
  • Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome1 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital cerebellar hypoplasia2 tests
  • Congenital contractural arachnodactyly2 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital defect of folate absorption1 test
  • Congenital diarrhea 5 with tufting enteropathy1 test
  • Congenital diarrhea 61 test
  • Congenital diarrhea 7 with exudative enteropathy1 test
  • Congenital disorder of glycosylation type 1E1 test
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation with defective fucosylation 11 test
  • Congenital disorder of glycosylation with defective fucosylation 21 test
  • Congenital disorder of glycosylation, type 2v1 test
  • Congenital disorder of glycosylation, type IAA1 test
  • Congenital disorder of glycosylation, type Ibb1 test
  • Congenital disorder of glycosylation, type IIq1 test
  • Congenital disorder of glycosylation, type IIr1 test
  • Congenital disorder of glycosylation, type iit1 test
  • Congenital disorder of glycosylation, type IIw1 test
  • Congenital dyserythropoietic anemia type 41 test
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital fibrosis of extraocular muscles type 11 test
  • Congenital generalized lipodystrophy1 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital generalized lipodystrophy type 31 test
  • Congenital generalized lipodystrophy type 41 test
  • Congenital heart defects and ectodermal dysplasia1 test
  • Congenital heart defects and skeletal malformations syndrome1 test
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
  • Congenital heart defects, multiple types, 21 test
  • Congenital heart defects, multiple types, 41 test
  • Congenital heart defects, multiple types, 51 test
  • Congenital heart defects, multiple types, 61 test
  • Congenital heart defects, multiple types, 71 test
  • Congenital heart defects, nonsyndromic, 1, X-linked2 tests
  • Congenital hereditary endothelial dystrophy of cornea1 test
  • Congenital hyperammonemia, type I1 test
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
  • Congenital insensitivity to pain-hypohidrosis syndrome1 test
  • Congenital isolated adrenocorticotropic hormone deficiency1 test
  • Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
  • Congenital malabsorptive diarrhea 41 test
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1 test
  • Congenital microvillous atrophy1 test
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
  • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome1 test
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myasthenic syndrome 101 test
  • Congenital myasthenic syndrome 111 test
  • Congenital myasthenic syndrome 122 tests
  • Congenital myasthenic syndrome 132 tests
  • Congenital myasthenic syndrome 142 tests
  • Congenital myasthenic syndrome 151 test
  • Congenital myasthenic syndrome 161 test
  • Congenital myasthenic syndrome 171 test
  • Congenital myasthenic syndrome 181 test
  • Congenital myasthenic syndrome 191 test
  • Congenital myasthenic syndrome 201 test
  • Congenital myasthenic syndrome 211 test
  • Congenital myasthenic syndrome 2A1 test
  • Congenital myasthenic syndrome 2C1 test
  • Congenital myasthenic syndrome 3A1 test
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 3C1 test
  • Congenital myasthenic syndrome 4A1 test
  • Congenital myasthenic syndrome 4B1 test
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myasthenic syndrome 51 test
  • Congenital myasthenic syndrome 71 test
  • Congenital myasthenic syndrome 81 test
  • Congenital myasthenic syndrome 91 test
  • Congenital myopathy with excess of muscle spindles1 test
  • Congenital myopathy with excess of thin filaments1 test
  • Congenital myopathy with internal nuclei and atypical cores1 test
  • Congenital neutropenia3 tests
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
  • Congenital nongoitrous hypothryoidism 61 test
  • Congenital nonprogressive myopathy with Moebius and Robin sequences1 test
  • Congenital nystagmus1 test
  • Congenital ocular coloboma1 test
  • Congenital primary aphakia1 test
  • Congenital ptosis1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital secretory sodium diarrhea 81 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital short bowel syndrome1 test
  • Congenital stationary night blindness 1B1 test
  • Congenital stationary night blindness 1C1 test
  • Congenital stationary night blindness 1D1 test
  • Congenital stationary night blindness 1E1 test
  • Congenital stationary night blindness 1F1 test
  • Congenital stationary night blindness 1G1 test
  • Congenital stationary night blindness 1H1 test
  • Congenital stationary night blindness 2A1 test
  • Congenital stationary night blindness autosomal dominant 11 test
  • Congenital stationary night blindness autosomal dominant 21 test
  • Congenital stationary night blindness autosomal dominant 31 test
  • Congenital stromal corneal dystrophy1 test
  • Conotruncal anomaly face syndrome1 test
  • Conotruncal heart malformations1 test
  • Conotruncal heart malformations, variable1 test
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A2 tests
  • Contractures, pterygia, and variable skeletal fusions syndrome 1B1 test
  • COPD, rate of decline of lung function in1 test
  • Cornea plana 21 test
  • Corneal dystrophy, Fuchs endothelial, 11 test
  • Corneal dystrophy, Fuchs endothelial, 31 test
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, Fuchs endothelial, 81 test
  • Corneal dystrophy, lattice type 3A1 test
  • Corneal dystrophy, posterior polymorphous, 41 test
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome2 tests
  • Cortical dysplasia, complex, with other brain malformations 91 test
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Corticobasal degeneration1 test
  • Corticosteroid-binding globulin deficiency1 test
  • Cortisone reductase deficiency 11 test
  • Cortisone reductase deficiency 21 test
  • Costello syndrome1 test
  • COVID-194 tests
  • Cowden syndrome3 tests
  • Cowden syndrome 11 test
  • Cowden syndrome 41 test
  • Cowden syndrome 51 test
  • Cowden syndrome 61 test
  • Cowden syndrome 71 test
  • Craniodiaphyseal dysplasia, autosomal dominant1 test
  • Cranioectodermal dysplasia 31 test
  • Cranioectodermal dysplasia 41 test
  • Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
  • Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome1 test
  • Craniofacial-deafness-hand syndrome1 test
  • Craniofacial-skeletal-dermatologic dysplasia1 test
  • Craniofrontonasal syndrome1 test
  • Craniolenticulosutural dysplasia1 test
  • Craniometaphyseal dysplasia1 test
  • Craniometaphyseal dysplasia, autosomal recessive1 test
  • Cranioosteoarthropathy2 tests
  • Craniosynostosis 21 test
  • Craniosynostosis 5, susceptibility to1 test
  • Craniosynostosis 61 test
  • CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO1 test
  • Cranium bifidum occultum1 test
  • Creatine transporter deficiency1 test
  • Creutzfeldt-Jakob disease1 test
  • Crigler-Najjar syndrome type 12 tests
  • Crigler-Najjar syndrome, type II2 tests
  • Crohn disease-associated growth failure, susceptibility to1 test
  • Crouzon syndrome2 tests
  • Crouzon syndrome-acanthosis nigricans syndrome3 tests
  • Cryohydrocytosis1 test
  • Cryptorchidism1 test
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome1 test
  • Curly hair, ankyloblepharon, nail dysplasia syndrome1 test
  • Currarino triad1 test
  • Curry-Hall syndrome1 test
  • Cutis laxa2 tests
  • Cutis laxa with osteodystrophy2 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1 test
  • Cutis laxa, autosomal dominant1 test
  • Cutis laxa, autosomal dominant 21 test
  • Cutis laxa, autosomal dominant 31 test
  • Cutis laxa, autosomal recessive, type 1A1 test
  • Cutis laxa, autosomal recessive, type 1B2 tests
  • Cyanosis, transient neonatal1 test
  • Cyclical neutropenia1 test
  • Cystathioninuria1 test
  • Cystic fibrosis1 test
  • Cystinosis, atypical nephropathic1 test
  • Cystinuria1 test
  • Czech dysplasia, metatarsal type1 test
  • D-2-hydroxyglutaric aciduria1 test
  • D-2-hydroxyglutaric aciduria 21 test
  • D-Glyceric aciduria1 test
  • Danon disease1 test
  • de la Chapelle dysplasia2 tests
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness with labyrinthine aplasia, microtia, and microdontia1 test
  • Deafness, autosomal recessive 12, modifier of1 test
  • DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY1 test
  • Deafness, congenital heart defects, and posterior embryotoxon1 test
  • Deafness, congenital, and adult-onset progressive leukoencephalopathy1 test
  • Deafness, digenic, GJB2/GJB31 test
  • Deafness, digenic, GJB2/GJB62 tests
  • Deafness, neurosensory, without vestibular involvement, autosomal dominant1 test
  • Deafness, X-linked 52 tests
  • Deafness, Y-linked 21 test
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
  • Deeah syndrome1 test
  • Deep venous thrombosis, protection against1 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of aromatic-L-amino-acid decarboxylase1 test
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of butyrylcholinesterase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Deficiency of steroid 17-alpha-monooxygenase1 test
  • DEGCAGS SYNDROME1 test
  • Dehydrated hereditary stomatocytosis 21 test
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
  • Dejerine-Sottas disease2 tests
  • Delpire-McNeill syndrome1 test
  • Delta-beta-thalassemia1 test
  • Dementia with epilepsy1 test
  • Dementia, frontotemporal, with or without parkinsonism1 test
  • Dent disease type 11 test
  • Dent disease type 21 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Denticles1 test
  • Dentin dysplasia type I1 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Dermatitis, atopic, 2, susceptibility to1 test
  • Dermatitis, atopic, susceptibility to, 11 test
  • Dermatofibrosarcoma protuberans1 test
  • Dermatofibrosis lenticularis disseminata1 test
  • Dermatopathia pigmentosa reticularis1 test
  • DeSanto-Shinawi syndrome due to WAC point mutation1 test
  • Desbuquois dysplasia 11 test
  • Desbuquois dysplasia 21 test
  • Desmin-related myofibrillar myopathy1 test
  • Desmoid disease, hereditary1 test
  • Desmosterolosis1 test
  • Deuteranomaly1 test
  • Developmental and epileptic encephalopathy 6B1 test
  • Developmental and epileptic encephalopathy 891 test
  • Developmental and epileptic encephalopathy 941 test
  • Developmental and epileptic encephalopathy 961 test
  • Developmental and epileptic encephalopathy 971 test
  • Developmental and epileptic encephalopathy, 12 tests
  • Developmental and epileptic encephalopathy, 112 tests
  • Developmental and epileptic encephalopathy, 122 tests
  • Developmental and epileptic encephalopathy, 133 tests
  • Developmental and epileptic encephalopathy, 142 tests
  • Developmental and epileptic encephalopathy, 152 tests
  • Developmental and epileptic encephalopathy, 163 tests
  • Developmental and epileptic encephalopathy, 172 tests
  • Developmental and epileptic encephalopathy, 182 tests
  • Developmental and epileptic encephalopathy, 192 tests
  • Developmental and epileptic encephalopathy, 22 tests
  • Developmental and epileptic encephalopathy, 212 tests
  • Developmental and epileptic encephalopathy, 232 tests
  • Developmental and epileptic encephalopathy, 242 tests
  • Developmental and epileptic encephalopathy, 252 tests
  • Developmental and epileptic encephalopathy, 262 tests
  • Developmental and epileptic encephalopathy, 272 tests
  • Developmental and epileptic encephalopathy, 282 tests
  • Developmental and epileptic encephalopathy, 292 tests
  • Developmental and epileptic encephalopathy, 31 test
  • Developmental and epileptic encephalopathy, 302 tests
  • Developmental and epileptic encephalopathy, 312 tests
  • Developmental and epileptic encephalopathy, 322 tests
  • Developmental and epileptic encephalopathy, 332 tests
  • Developmental and epileptic encephalopathy, 342 tests
  • Developmental and epileptic encephalopathy, 352 tests
  • Developmental and epileptic encephalopathy, 363 tests
  • Developmental and epileptic encephalopathy, 372 tests
  • Developmental and epileptic encephalopathy, 382 tests
  • Developmental and epileptic encephalopathy, 392 tests
  • Developmental and epileptic encephalopathy, 42 tests
  • Developmental and epileptic encephalopathy, 401 test
  • Developmental and epileptic encephalopathy, 412 tests
  • Developmental and epileptic encephalopathy, 422 tests
  • Developmental and epileptic encephalopathy, 432 tests
  • Developmental and epileptic encephalopathy, 442 tests
  • Developmental and epileptic encephalopathy, 452 tests
  • Developmental and epileptic encephalopathy, 462 tests
  • Developmental and epileptic encephalopathy, 472 tests
  • Developmental and epileptic encephalopathy, 482 tests
  • Developmental and epileptic encephalopathy, 492 tests
  • Developmental and epileptic encephalopathy, 52 tests
  • Developmental and epileptic encephalopathy, 502 tests
  • Developmental and epileptic encephalopathy, 512 tests
  • Developmental and epileptic encephalopathy, 522 tests
  • Developmental and epileptic encephalopathy, 532 tests
  • Developmental and epileptic encephalopathy, 542 tests
  • Developmental and epileptic encephalopathy, 552 tests
  • Developmental and epileptic encephalopathy, 562 tests
  • Developmental and epileptic encephalopathy, 572 tests
  • Developmental and epileptic encephalopathy, 582 tests
  • Developmental and epileptic encephalopathy, 592 tests
  • Developmental and epileptic encephalopathy, 602 tests
  • Developmental and epileptic encephalopathy, 612 tests
  • Developmental and epileptic encephalopathy, 622 tests
  • Developmental and epileptic encephalopathy, 632 tests
  • Developmental and epileptic encephalopathy, 642 tests
  • Developmental and epileptic encephalopathy, 652 tests
  • Developmental and epileptic encephalopathy, 662 tests
  • Developmental and epileptic encephalopathy, 672 tests
  • Developmental and epileptic encephalopathy, 682 tests
  • Developmental and epileptic encephalopathy, 692 tests
  • Developmental and epileptic encephalopathy, 74 tests
  • Developmental and epileptic encephalopathy, 702 tests
  • Developmental and epileptic encephalopathy, 712 tests
  • Developmental and epileptic encephalopathy, 722 tests
  • Developmental and epileptic encephalopathy, 732 tests
  • Developmental and epileptic encephalopathy, 742 tests
  • Developmental and epileptic encephalopathy, 752 tests
  • Developmental and epileptic encephalopathy, 761 test
  • Developmental and epileptic encephalopathy, 771 test
  • Developmental and epileptic encephalopathy, 781 test
  • Developmental and epileptic encephalopathy, 791 test
  • Developmental and epileptic encephalopathy, 82 tests
  • Developmental and epileptic encephalopathy, 801 test
  • Developmental and epileptic encephalopathy, 811 test
  • Developmental and epileptic encephalopathy, 821 test
  • Developmental and epileptic encephalopathy, 831 test
  • Developmental and epileptic encephalopathy, 841 test
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
  • Developmental and epileptic encephalopathy, 871 test
  • Developmental and epileptic encephalopathy, 92 tests
  • Developmental and epileptic encephalopathy, 901 test
  • Developmental delay and seizures with or without movement abnormalities1 test
  • Developmental delay with autism spectrum disorder and gait instability1 test
  • Developmental delay with dysmorphic facies and dental anomalies1 test
  • Developmental delay with or without dysmorphic facies and autism1 test
  • Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1 test
  • DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES1 test
  • Developmental dysplasia of the hip 11 test
  • Developmental dysplasia of the hip 21 test
  • Diabetes insipidus, neurohypophyseal, X-linked1 test
  • Diabetes mellitus, noninsulin-dependent, late onset1 test
  • Diabetes mellitus, permanent neonatal 22 tests
  • Diabetes mellitus, permanent neonatal 31 test
  • Diabetes mellitus, permanent neonatal 41 test
  • Diabetes mellitus, transient neonatal, 11 test
  • Diabetes mellitus, transient neonatal, 21 test
  • Diabetes mellitus, transient neonatal, 31 test
  • Diamond-Blackfan anemia 11 test
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 111 test
  • Diamond-Blackfan anemia 121 test
  • Diamond-Blackfan anemia 131 test
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
  • 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 31 test
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 61 test
  • Diamond-Blackfan anemia 71 test
  • Diamond-Blackfan anemia 81 test
  • Diamond-Blackfan anemia 91 test
  • Diaphanospondylodysostosis1 test
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia1 test
  • Diaphyseal medullary stenosis-bone malignancy syndrome1 test
  • Diarrhea 10, protein-losing enteropathy type1 test
  • Diarrhea 3, secretory sodium, congenital, syndromic1 test
  • Diarrhea 91 test
  • Dias-Logan syndrome1 test
  • Diastrophic dysplasia1 test
  • Diastrophic dysplasia, broad bone-platyspondylic variant1 test
  • Dicarboxylic aminoaciduria1 test
  • Diencephalic-mesencephalic junction dysplasia syndrome 11 test
  • Diencephalic-mesencephalic junction dysplasia syndrome 21 test
  • Diets-Jongmans syndrome1 test
  • Diffuse Gastric Cancer Syndrome1 test
  • DiGeorge syndrome1 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C3 tests
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1D2 tests
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK3 tests
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1LL2 tests
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1NN1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S2 tests
  • Dilated cardiomyopathy 1U1 test
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 1Y2 tests
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 2B1 test
  • Dilated cardiomyopathy 3B1 test
  • Distal arthrogryposis type 2B11 test
  • Distal arthrogryposis type 5D1 test
  • DK1-congenital disorder of glycosylation1 test
  • DOCK2 deficiency1 test
  • DOORS syndrome2 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Dopamine beta-hydroxylase deficiency1 test
  • Dowling-Degos disease 11 test
  • Dowling-Degos disease 21 test
  • Dowling-Degos disease 41 test
  • DPAGT1-congenital disorder of glycosylation1 test
  • DPM3-congenital disorder of glycosylation1 test
  • Drash syndrome1 test
  • Dravet syndrome, modifier of1 test
  • Duane retraction syndrome 21 test
  • Duane retraction syndrome 3 with or without deafness1 test
  • Duane-radial ray syndrome1 test
  • Dubin-Johnson syndrome1 test
  • DYRK1A-related intellectual disability syndrome1 test
  • Dysalbuminemic hypertriiodothyroninemia1 test
  • Dyschromatosis universalis hereditaria 11 test
  • Dyschromatosis universalis hereditaria 31 test
  • Dyskeratosis congenita, autosomal dominant 11 test
  • Dyskeratosis congenita, autosomal dominant 21 test
  • Dyskeratosis congenita, autosomal dominant 31 test
  • Dyskeratosis congenita, autosomal dominant 61 test
  • Dyskeratosis congenita, autosomal dominant, 41 test
  • Dyskeratosis congenita, autosomal recessive 11 test
  • Dyskeratosis congenita, autosomal recessive 21 test
  • Dyskeratosis congenita, autosomal recessive 31 test
  • Dyskeratosis congenita, autosomal recessive 51 test
  • Dyskeratosis congenita, autosomal recessive 61 test
  • Dyskeratosis congenita, autosomal recessive 71 test
  • Dyskeratosis congenita, X-linked1 test
  • Dystonia 121 test
  • Dystonia 161 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 271 test
  • Dystonia 28, childhood-onset1 test
  • Dystonia 91 test
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
  • Early myoclonic encephalopathy1 test
  • Early-onset generalized limb-onset dystonia1 test
  • Early-onset Lafora body disease1 test
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • Early-onset Parkinson disease 201 test
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1 test
  • 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 hypohidrosis1 test
  • Ectodermal dysplasia 4, hair/nail type1 test
  • Ectodermal dysplasia 7, hair/nail type1 test
  • Ectodermal dysplasia 9, hair/nail type1 test
  • Ectodermal dysplasia and immunodeficiency 11 test
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectodermal dysplasia-syndactyly syndrome 11 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
  • Ehlers-Danlos syndrome2 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
  • Ehlers-Danlos syndrome progeroid type1 test
  • Ehlers-danlos syndrome, arthrochalasia type, 21 test
  • Ehlers-Danlos syndrome, arthrochalasis type1 test
  • Ehlers-Danlos syndrome, cardiac valvular type1 test
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, classic-like, 21 test
  • Ehlers-Danlos syndrome, dermatosparaxis type1 test
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type1 test
  • Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, periodontal type 11 test
  • Ehlers-Danlos syndrome, periodontal type 21 test
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
  • Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
  • Ehlers-Danlos syndrome, type 41 test
  • Elevated circulating creatine kinase concentration1 test
  • Ellis-van Creveld syndrome1 test
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 61 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
  • Encephalopathy due to GLUT1 deficiency1 test
  • Encephalopathy due to prosaposin deficiency1 test
  • Encephalopathy with Epilepsy2 tests
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
  • Encephalopathy, acute, infection-induced, susceptibility to, 41 test
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
  • Endove syndrome, limb-brain type1 test
  • EPB42-Related Hereditary Spherocytosi1 test
  • Epidermodysplasia verruciformis, susceptibility to, 11 test
  • Epidermodysplasia verruciformis, susceptibility to, 21 test
  • Epidermodysplasia verruciformis, susceptibility to, 31 test
  • Epidermodysplasia verruciformis, susceptibility to, 41 test
  • Epidermodysplasia verruciformis, susceptibility to, 51 test
  • Epidermolysis bullosa simplex1 test
  • Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
  • Epilepsy, familial adult myoclonic, 11 test
  • Epilepsy, familial adult myoclonic, 21 test
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial adult myoclonic, 61 test
  • Epilepsy, familial adult myoclonic, 71 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial focal, with variable foci 41 test
  • Epilepsy, familial temporal lobe, 11 test
  • Epilepsy, idiopathic generalized, susceptibility to, 101 test
  • Epilepsy, juvenile myoclonic, susceptibility to1 test
  • Epilepsy, progressive myoclonic 2A (Lafora)1 test
  • Epilepsy, progressive myoclonic 2B (Lafora)1 test
  • Epilepsy, progressive myoclonic, 1B2 tests
  • Epileptic encephalopathy, infantile or early childhood, 12 tests
  • Epileptic encephalopathy, infantile or early childhood, 22 tests
  • Epileptic encephalopathy, infantile or early childhood, 32 tests
  • Epiphyseal dysplasia, multiple, 21 test
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy1 test
  • Epiphyseal dysplasia, multiple, 61 test
  • Epiphyseal dysplasia, multiple, 71 test
  • Episodic ataxia type 11 test
  • Episodic ataxia type 22 tests
  • Episodic ataxia type 51 test
  • Episodic ataxia type 61 test
  • Episodic ataxia/myokymia syndrome1 test
  • Episodic kinesigenic dyskinesia 12 tests
  • Episodic pain syndrome, familial, 21 test
  • Epithelial basement membrane dystrophy1 test
  • Epsilon-trimethyllysine hydroxylase deficiency1 test
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythrocytosis, familial, 51 test
  • Erythrocytosis, familial, 61 test
  • Erythrocytosis, familial, 71 test
  • Erythrokeratodermia variabilis et progressiva 11 test
  • Erythrokeratodermia variabilis et progressiva 21 test
  • Erythrokeratodermia variabilis et progressiva 31 test
  • Erythrokeratodermia variabilis et progressiva 41 test
  • Erythrokeratodermia variabilis et progressiva 51 test
  • Ethylmalonic encephalopathy2 tests
  • Exercise intolerance, riboflavin-responsive1 test
  • Exercise-induced hyperinsulinism1 test
  • Extraskeletal myxoid chondrosarcoma1 test
  • Exudative retinopathy2 tests
  • Exudative vitreoretinopathy 11 test
  • Exudative vitreoretinopathy 2, X-linked3 tests
  • Exudative vitreoretinopathy 41 test
  • Exudative vitreoretinopathy 51 test
  • Exudative vitreoretinopathy 61 test
  • Exudative vitreoretinopathy 71 test
  • Facial palsy, congenital, with ptosis and velopharyngeal dysfunction1 test
  • Facial paresis, hereditary congenital, 31 test
  • Facioscapulohumeral muscular dystrophy 11 test
  • Factor H deficiency1 test
  • Factor I deficiency1 test
  • Factor V and factor VIII, combined deficiency of, type 11 test
  • Factor VIII deficiency2 tests
  • Familial acute necrotizing encephalopathy2 tests
  • Familial adenomatous polyposis 12 tests
  • Familial adenomatous polyposis 24 tests
  • Familial adenomatous polyposis 31 test
  • Familial adenomatous polyposis 41 test
  • Familial antiphospholipid syndrome1 test
  • Familial Atypical Hemolytic-Uremic Syndrome1 test
  • Familial cancer of breast1 test
  • Familial cavitary optic disc anomaly2 tests
  • Familial chronic mucocutaneous candidiasis1 test
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial colorectal cancer3 tests
  • Familial congenital nasolacrimal duct obstruction1 test
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
  • Familial cylindromatosis1 test
  • Familial digital arthropathy-brachydactyly1 test
  • Familial dysautonomia2 tests
  • Familial episodic pain syndrome with predominantly lower limb involvement1 test
  • Familial episodic pain syndrome with predominantly upper body involvement1 test
  • Familial exudative vitreoretinopathy1 test
  • Familial hemiplegic migraine1 test
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Familial hemophagocytic lymphohistiocytosis 21 test
  • Familial hemophagocytic lymphohistiocytosis 31 test
  • Familial hemophagocytic lymphohistiocytosis 41 test
  • Familial hemophagocytic lymphohistiocytosis 51 test
  • Familial hemophagocytic lymphohistiocytosis type 11 test
  • Familial hyperaldosteronism type II1 test
  • Familial hyperaldosteronism type III1 test
  • Familial hyperinsulinism1 test
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypocalciuric hypercalcemia 31 test
  • Familial infantile myasthenia1 test
  • Familial infantile myoclonic epilepsy1 test
  • Familial isolated congenital asplenia1 test
  • Familial isolated deficiency of vitamin E1 test
  • Familial juvenile hyperuricemic nephropathy type 13 tests
  • Familial juvenile hyperuricemic nephropathy type 21 test
  • Familial Mediterranean fever1 test
  • Familial pancreatic carcinoma2 tests
  • Familial partial lipodystrophy, Dunnigan type1 test
  • Familial porphyria cutanea tarda1 test
  • Familial primary hyperparathyroidism1 test
  • Familial prostate carcinoma2 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
  • Familial temporal lobe epilepsy 51 test
  • Familial temporal lobe epilepsy 71 test
  • Familial temporal lobe epilepsy 81 test
  • Familial visceral amyloidosis, Ostertag type1 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
  • Fanconi anemia2 tests
  • Fanconi anemia complementation group A1 test
  • Fanconi anemia complementation group B1 test
  • Fanconi anemia complementation group C1 test
  • Fanconi anemia complementation group D11 test
  • Fanconi anemia complementation group D21 test
  • Fanconi anemia complementation group E1 test
  • Fanconi anemia complementation group F1 test
  • Fanconi anemia complementation group G1 test
  • Fanconi anemia complementation group I1 test
  • Fanconi anemia complementation group J1 test
  • Fanconi anemia complementation group L1 test
  • Fanconi anemia complementation group N1 test
  • Fanconi anemia complementation group O1 test
  • Fanconi anemia complementation group P1 test
  • Fanconi anemia complementation group Q1 test
  • Fanconi anemia complementation group R1 test
  • Fanconi anemia complementation group T1 test
  • Fanconi anemia complementation group U1 test
  • Fanconi anemia complementation group V1 test
  • Fanconi anemia, complementation group S1 test
  • Fanconi anemia, complementation group W1 test
  • Fanconi renotubular syndrome 21 test
  • Fanconi renotubular syndrome 31 test
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
  • Fatal infantile hypertonic myofibrillar myopathy1 test
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 3a2 tests
  • Febrile seizures, familial, 3b2 tests
  • Febrile seizures, familial, 41 test
  • Febrile seizures, familial, 82 tests
  • Feingold syndrome1 test
  • Feingold syndrome type 11 test
  • Feingold syndrome type 21 test
  • Female infertility due to zona pellucida defect1 test
  • Fetal akinesia deformation sequence 11 test
  • Fetal akinesia deformation sequence 21 test
  • Fetal akinesia deformation sequence 31 test
  • Fetal akinesia deformation sequence 41 test
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
  • FG syndrome 21 test
  • FGFR2-related bent bone dysplasia1 test
  • Fibrochondrogenesis 11 test
  • Fibrochondrogenesis 21 test
  • Fibromatosis, gingival, 11 test
  • Fibromatosis, gingival, 51 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
  • Fibrosis of extraocular muscles, congenital, 3B1 test
  • Fibrosis of extraocular muscles, congenital, 51 test
  • Fibrous dysplasia of jaw1 test
  • Finnish congenital nephrotic syndrome1 test
  • Fleck corneal dystrophy1 test
  • Floating-Harbor syndrome1 test
  • Fluorouracil response1 test
  • Focal dermal hypoplasia2 tests
  • Focal facial dermal dysplasia type III1 test
  • Focal facial dermal dysplasia type IV1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 31 test
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 71 test
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 91 test
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
  • Foveal hypoplasia 11 test
  • Fraser syndrome 11 test
  • Fraser syndrome 21 test
  • Fraser syndrome 31 test
  • Freeman-Sheldon syndrome1 test
  • Friedreich ataxia2 tests
  • Frontometaphyseal dysplasia 12 tests
  • Frontometaphyseal dysplasia 21 test
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
  • Frontonasal dysplasia with alopecia and genital anomaly1 test
  • Frontorhiny1 test
  • Frontotemporal dementia2 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 81 test
  • Frontotemporal lobar degeneration, TARDBP-related1 test
  • Fumarase deficiency1 test
  • Gallbladder disease 41 test
  • Galloway-Mowat syndrome 11 test
  • Galloway-Mowat syndrome 2, X-linked1 test
  • Galloway-Mowat syndrome 31 test
  • Galloway-Mowat syndrome 41 test
  • Galloway-Mowat syndrome 51 test
  • Galloway-Mowat syndrome 61 test
  • Galloway-Mowat syndrome 71 test
  • Galloway-Mowat syndrome 81 test
  • gamma-Glutamyltransferase deficiency1 test
  • Gardner syndrome1 test
  • GARS-Associated Axonal Neuropathy1 test
  • Gastrointestinal and Colorectal Cancer2 tests
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
  • GATA4-related disorders1 test
  • Gaze palsy, familial horizontal, with progressive scoliosis 11 test
  • Gaze palsy, familial horizontal, with progressive scoliosis, 21 test
  • Geleophysic dysplasia1 test
  • Generalized epilepsy with febrile seizures plus 32 tests
  • Generalized epilepsy with febrile seizures plus type 51 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 22 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized pustular psoriasis1 test
  • Genitopatellar syndrome1 test
  • Giant axonal neuropathy 11 test
  • Giant axonal neuropathy 21 test
  • Giant platelet disorder, isolated1 test
  • Gilbert syndrome, susceptibility to1 test
  • Glanzmann thrombasthenia1 test
  • Glaucoma 3, primary infantile, B1 test
  • Glioma susceptibility 11 test
  • Glioma susceptibility 21 test
  • Glioma susceptibility 31 test
  • Glioma susceptibility 91 test
  • Glioma, susceptibility to, somatic1 test
  • Global developmental delay, progressive ataxia, and elevated glutamine1 test
  • Globozoospermia1 test
  • Glomerulopathy with fibronectin deposits 21 test
  • Glucocorticoid deficiency 11 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency 41 test
  • Glucocorticoid deficiency 51 test
  • Glucocorticoid deficiency with achalasia1 test
  • Glucocorticoid-remediable aldosteronism1 test
  • GLUT1 deficiency syndrome2 tests
  • Glutamate pyruvate transaminase 2 deficiency1 test
  • Glycogen storage disease2 tests
  • Glycogen storage disease type 6, due to phosphorylation1 test
  • Glycogen storage disease type III1 test
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type I1 test
  • Glycogen storage disease, type IV2 tests
  • Glycogen storage disease, type V2 tests
  • Glycosylphosphatidylinositol biosynthesis defect 161 test
  • Glycosylphosphatidylinositol biosynthesis defect 181 test
  • GM1 gangliosidosis2 tests
  • GNE myopathy1 test
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors1 test
  • Gordon syndrome1 test
  • Gorlin syndrome2 tests
  • Granulocytopenia with immunoglobulin abnormality1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31 test
  • Granulomatous disease, chronic, X-linked1 test
  • Gray platelet syndrome1 test
  • Grebe syndrome1 test
  • Greig cephalopolysyndactyly syndrome2 tests
  • GRIN2B Encephalopathy2 tests
  • Griscelli syndrome type 11 test
  • Griscelli syndrome type 21 test
  • Griscelli syndrome type 31 test
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
  • Groenouw corneal dystrophy type I1 test
  • Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1 test
  • Growth hormone deficiency with pituitary anomalies1 test
  • GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES1 test
  • Guttmacher syndrome1 test
  • Hand-foot-genital syndrome1 test
  • Hartsfield-Bixler-Demyer syndrome1 test
  • Hearing loss, autosomal dominant 34, with or without inflammation1 test
  • Hearing loss, autosomal dominant 711 test
  • Hearing loss, autosomal dominant 721 test
  • Hearing loss, autosomal dominant 731 test
  • Hearing loss, autosomal dominant 741 test
  • Hearing loss, autosomal recessive 1001 test
  • Hearing loss, autosomal recessive 1061 test
  • Hearing loss, autosomal recessive 1071 test
  • Hearing loss, autosomal recessive 1081 test
  • Hearing loss, autosomal recessive 1091 test
  • Hearing loss, autosomal recessive 1101 test
  • Hearing loss, autosomal recessive 1111 test
  • Hearing loss, autosomal recessive 1121 test
  • Hearing loss, autosomal recessive 1131 test
  • Hearing loss, autosomal recessive 1141 test
  • Hearing loss, autosomal recessive 1151 test
  • Hearing loss, autosomal recessive 571 test
  • Hearing loss, autosomal recessive 941 test
  • Hearing loss, X-linked 11 test
  • Hearing loss, X-linked 41 test
  • Hearing loss, X-linked 61 test
  • Heart block, nonprogressive1 test
  • Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
  • Hecht syndrome1 test
  • Heimler syndrome 11 test
  • Heimler syndrome 21 test
  • Hematologic disorder1 test
  • Hematologic neoplasm2 tests
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemochromatosis type 51 test
  • Hemolytic uremic syndrome, atypical, susceptibility to1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 72 tests
  • Hemophagocytic lymphohistiocytosis, familial, 61 test
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hennekam lymphangiectasia-lymphedema syndrome 21 test
  • Hennekam lymphangiectasia-lymphedema syndrome 31 test
  • Heparin cofactor II deficiency1 test
  • Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11 test
  • Hepatoerythropoietic porphyria2 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 31 test
  • Hereditary antithrombin deficiency1 test
  • Hereditary arterial and articular multiple calcification syndrome1 test
  • Hereditary breast ovarian cancer syndrome6 tests
  • Hereditary cancer-predisposing syndrome2 tests
  • Hereditary coproporphyria1 test
  • Hereditary disease35 tests
  • Hereditary factor IX deficiency disease1 test
  • Hereditary fructosuria2 tests
  • Hereditary hemochromatosis3 tests
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary leiomyomatosis and renal cell cancer2 tests
  • Hereditary liability to pressure palsies2 tests
  • Hereditary lymphedema type I2 tests
  • Hereditary pancreatitis1 test
  • Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
  • Hereditary pheochromocytoma-paraganglioma1 test
  • Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1 test
  • Hereditary sensory and autonomic neuropathy type 12 tests
  • Hereditary sensory and autonomic neuropathy type 22 tests
  • Hereditary sensory and autonomic neuropathy type 61 test
  • Hereditary sensory and autonomic neuropathy type 71 test
  • Hereditary sensory neuropathy-deafness-dementia syndrome1 test
  • Hereditary spastic paraplegia2 tests
  • Hereditary spastic paraplegia 101 test
  • Hereditary spastic paraplegia 112 tests
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 151 test
  • Hereditary spastic paraplegia 172 tests
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 22 tests
  • Hereditary spastic paraplegia 231 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 281 test
  • Hereditary spastic paraplegia 301 test
  • Hereditary spastic paraplegia 311 test
  • Hereditary spastic paraplegia 331 test
  • Hereditary spastic paraplegia 352 tests
  • Hereditary spastic paraplegia 392 tests
  • Hereditary spastic paraplegia 3A3 tests
  • Hereditary spastic paraplegia 43 tests
  • Hereditary spastic paraplegia 421 test
  • Hereditary spastic paraplegia 431 test
  • Hereditary spastic paraplegia 441 test
  • Hereditary spastic paraplegia 451 test
  • Hereditary spastic paraplegia 461 test
  • Hereditary spastic paraplegia 471 test
  • Hereditary spastic paraplegia 481 test
  • Hereditary spastic paraplegia 491 test
  • Hereditary spastic paraplegia 501 test
  • Hereditary spastic paraplegia 511 test
  • Hereditary spastic paraplegia 531 test
  • Hereditary spastic paraplegia 541 test
  • Hereditary spastic paraplegia 551 test
  • Hereditary spastic paraplegia 561 test
  • Hereditary spastic paraplegia 571 test
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 611 test
  • Hereditary spastic paraplegia 621 test
  • Hereditary spastic paraplegia 631 test
  • Hereditary spastic paraplegia 641 test
  • Hereditary spastic paraplegia 73 tests
  • Hereditary spastic paraplegia 731 test
  • Hereditary spastic paraplegia 741 test
  • Hereditary spastic paraplegia 751 test
  • Hereditary spastic paraplegia 771 test
  • Hereditary spastic paraplegia 82 tests
  • Hereditary spastic paraplegia 9A1 test
  • Hereditary xanthinuria type 11 test
  • Heritable Thoracic Aortic Disease1 test
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 101 test
  • Hermansky-Pudlak syndrome 21 test
  • Hermansky-Pudlak syndrome 31 test
  • Hermansky-Pudlak syndrome 41 test
  • Hermansky-Pudlak syndrome 51 test
  • Hermansky-Pudlak syndrome 61 test
  • Hermansky-Pudlak syndrome 71 test
  • Hermansky-Pudlak syndrome 81 test
  • Hermansky-Pudlak syndrome 91 test
  • Herpes simplex encephalitis, susceptibility to, 11 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Herpes simplex encephalitis, susceptibility to, 41 test
  • Herpes simplex encephalitis, susceptibility to, 71 test
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 5, autosomal1 test
  • Heterotaxy, visceral, 6, autosomal1 test
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotaxy, visceral, 8, autosomal1 test
  • Heterotopia, periventricular, X-linked dominant1 test
  • HFE hemochromatosis, modifier of1 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • High myopia-sensorineural deafness syndrome1 test
  • Hip dysplasia, Beukes type1 test
  • Hirschsprung disease, protection against1 test
  • Hirschsprung disease, susceptibility to, 11 test
  • Hirschsprung disease, susceptibility to, 21 test
  • Hirschsprung disease, susceptibility to, 31 test
  • Hirschsprung disease, susceptibility to, 41 test
  • Holoprosencephaly sequence1 test
  • Holt-Oram syndrome2 tests
  • HSD10 mitochondrial disease1 test
  • Human HOXA1 syndromes1 test
  • Humerofemoral hypoplasia with radiotibial ray deficiency1 test
  • Huntington disease-like 21 test
  • Hurler syndrome1 test
  • Hutchinson-Gilford progeria syndrome, childhood-onset2 tests
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydatidiform mole, recurrent, 31 test
  • Hydatidiform mole, recurrent, 41 test
  • Hydranencephaly with abnormal genitalia1 test
  • Hydrocephalus due to aqueductal stenosis1 test
  • Hydrocephalus with congenital idiopathic intestinal pseudoobstruction1 test
  • Hydrocephalus with Hirschsprung disease1 test
  • Hydrocephalus, congenital, 3, with brain anomalies1 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 11 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 21 test
  • Hydrolethalus syndrome1 test
  • Hydrolethalus syndrome 21 test
  • Hydroxykynureninuria1 test
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive1 test
  • Hyper-IgE syndrome1 test
  • Hyper-IgM syndrome type 21 test
  • Hyper-IgM syndrome type 31 test
  • Hyper-IgM syndrome type 51 test
  • Hyperaldosteronism, familial, type IV1 test
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 21 test
  • Hypercholesterolemia, familial, 11 test
  • Hyperekplexia 13 tests
  • Hyperekplexia 21 test
  • Hyperekplexia 31 test
  • Hyperekplexia 41 test
  • Hyperfibrinolysis, familial, due to increased release of PLAT1 test
  • Hyperimmunoglobulin M syndrome2 tests
  • Hyperinsulinemic hypoglycemia, familial, 11 test
  • Hyperinsulinemic hypoglycemia, familial, 21 test
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperinsulinism due to INSR deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperkalemic periodic paralysis1 test
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia, type I2 tests
  • Hypermanganesemia with dystonia 22 tests
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperostosis cranialis interna1 test
  • Hyperparathyroidism 2 with jaw tumors1 test
  • Hyperparathyroidism 41 test
  • Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria1 test
  • Hyperparathyroidism, transient neonatal1 test
  • Hyperphosphatasemia tarda1 test
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with intellectual disability syndrome 11 test
  • Hyperphosphatasia with intellectual disability syndrome 21 test
  • Hyperphosphatasia with intellectual disability syndrome 31 test
  • Hyperphosphatasia with intellectual disability syndrome 41 test
  • Hyperphosphatasia with intellectual disability syndrome 51 test
  • Hyperphosphatasia with intellectual disability syndrome 61 test
  • Hyperplasia of the Leydig cells1 test
  • Hypertension, pregnancy-induced, susceptibility to1 test
  • Hypertrichosis, congenital generalized, with gingival hyperplasia1 test
  • Hypertrophic cardiomyopathy 11 test
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 111 test
  • Hypertrophic cardiomyopathy 121 test
  • Hypertrophic cardiomyopathy 131 test
  • Hypertrophic cardiomyopathy 141 test
  • Hypertrophic cardiomyopathy 151 test
  • Hypertrophic cardiomyopathy 161 test
  • Hypertrophic cardiomyopathy 171 test
  • Hypertrophic cardiomyopathy 181 test
  • Hypertrophic cardiomyopathy 21 test
  • Hypertrophic cardiomyopathy 201 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypertrophic cardiomyopathy 31 test
  • Hypertrophic cardiomyopathy 41 test
  • Hypertrophic cardiomyopathy 61 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 91 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
  • Hyperuricemic nephropathy, familial juvenile type 41 test
  • Hypervalinemia and hyperleucine-isoleucinemia1 test
  • Hypoadiponectinemia1 test
  • Hypocalcemia, autosomal dominant, with bartter syndrome1 test
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
  • 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 anosmia2 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 24 without anosmia1 test
  • Hypogonadotropic hypogonadism 3 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis1 test
  • Hypomagnesemia, seizures, and intellectual disability 11 test
  • Hypomagnesemia, seizures, and intellectual disability 21 test
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
  • Hypomyelinating leukodystrophy 101 test
  • Hypomyelinating leukodystrophy 111 test
  • Hypomyelinating leukodystrophy 121 test
  • Hypomyelinating leukodystrophy 131 test
  • Hypomyelinating leukodystrophy 21 test
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 41 test
  • Hypomyelinating leukodystrophy 61 test
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
  • Hypomyelinating leukodystrophy 91 test
  • Hypomyelinating neuropathy, congenital, 12 tests
  • Hypomyelination and Congenital Cataract2 tests
  • Hypophosphatasia2 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 11 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 21 test
  • Hypophosphatemic rickets1 test
  • Hypophosphatemic rickets, autosomal recessive, 11 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic left heart syndrome 11 test
  • Hypoplastic left heart syndrome 21 test
  • Hypoproteinemia, hypercatabolic1 test
  • Hypospadias 1, X-linked1 test
  • Hypospadias 2, X-linked1 test
  • Hypothryoidism, congenital, nongoitrous 41 test
  • Hypothyroidism due to TSH receptor mutations1 test
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Hypotonia with lactic acidemia and hyperammonemia1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 21 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
  • Hypotrichosis 11 test
  • Hypotrichosis 111 test
  • Hypotrichosis 121 test
  • Hypotrichosis 131 test
  • Hypotrichosis 141 test
  • Hypotrichosis 21 test
  • Hypotrichosis 31 test
  • Hypotrichosis 41 test
  • Hypotrichosis 61 test
  • Hypotrichosis 71 test
  • Hypotrichosis 81 test
  • Ichthyosis, congenital, autosomal recessive 121 test
  • Ichthyosis, congenital, autosomal recessive 131 test
  • Ichthyosis, congenital, autosomal recessive 141 test
  • Idiopathic basal ganglia calcification 13 tests
  • Idiopathic CD4 lymphocytopenia1 test
  • IgA nephropathy, susceptibility to, 11 test
  • IgA nephropathy, susceptibility to, 31 test
  • IL21-related infantile inflammatory bowel disease1 test
  • IMAGe syndrome1 test
  • Immunodeficiency 11b with atopic dermatitis1 test
  • Immunodeficiency 141 test
  • Immunodeficiency 15a1 test
  • Immunodeficiency 181 test
  • Immunodeficiency 18, scid variant1 test
  • Immunodeficiency 191 test
  • Immunodeficiency 231 test
  • Immunodeficiency 251 test
  • Immunodeficiency 27A1 test
  • Immunodeficiency 281 test
  • Immunodeficiency 31B1 test
  • Immunodeficiency 31C, autosomal dominant2 tests
  • Immunodeficiency 32B1 test
  • Immunodeficiency 332 tests
  • Immunodeficiency 351 test
  • Immunodeficiency 361 test
  • Immunodeficiency 371 test
  • Immunodeficiency 391 test
  • Immunodeficiency 451 test
  • Immunodeficiency 471 test
  • Immunodeficiency 491 test
  • Immunodeficiency 511 test
  • Immunodeficiency 531 test
  • Immunodeficiency 571 test
  • Immunodeficiency 601 test
  • Immunodeficiency 611 test
  • Immunodeficiency 621 test
  • Immunodeficiency 83, susceptibility to viral infections1 test
  • Immunodeficiency due to CD25 deficiency1 test
  • Immunodeficiency due to ficolin3 deficiency1 test
  • Immunodeficiency due to MASP-2 deficiency1 test
  • Immunodeficiency, common variable, 11 test
  • Immunodeficiency, common variable, 101 test
  • Immunodeficiency, common variable, 121 test
  • Immunodeficiency, common variable, 141 test
  • Immunodeficiency, common variable, 21 test
  • Immunodeficiency, common variable, 31 test
  • Immunodeficiency, common variable, 41 test
  • Immunodeficiency, common variable, 51 test
  • Immunodeficiency, common variable, 61 test
  • Immunodeficiency, common variable, 71 test
  • Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome1 test
  • Immunodeficiency, X-linked, with hyper-IgM2 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21 test
  • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 31 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 12 tests
  • Incontinentia pigmenti syndrome1 test
  • Indifference to pain, congenital, autosomal dominant1 test
  • Infantile bilateral striatal necrosis1 test
  • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development1 test
  • Infantile convulsions and choreoathetosis1 test
  • Infantile cortical hyperostosis1 test
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1 test
  • Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1 test
  • Infantile liver failure syndrome 11 test
  • Infantile liver failure syndrome 21 test
  • Infantile nephronophthisis1 test
  • Infantile neuroaxonal dystrophy2 tests
  • Infantile onset spinocerebellar ataxia2 tests
  • Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Infertility due to oligospermia1 test
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 101 test
  • Inflammatory bowel disease 131 test
  • Inflammatory bowel disease 141 test
  • Inflammatory bowel disease 17, protection against1 test
  • Inflammatory bowel disease 191 test
  • Inflammatory bowel disease 251 test
  • Inflammatory bowel disease 281 test
  • Inflammatory bowel disease 291 test
  • Inflammatory skin and bowel disease, neonatal, 11 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Insulin resistance, severe, digenic1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder, autosomal recessive 671 test
  • Intellectual developmental disorder, autosomal recessive 681 test
  • Intellectual developmental disorder, autosomal recessive 691 test
  • Intellectual developmental disorder, autosomal recessive 701 test
  • Intellectual developmental disorder, X-linked 1081 test
  • Intellectual developmental disorder, X-linked, syndromic 161 test
  • Intellectual disability1 test
  • Intellectual disability, autosomal dominant 11 test
  • Intellectual disability, autosomal dominant 101 test
  • Intellectual disability, autosomal dominant 111 test
  • Intellectual disability, autosomal dominant 131 test
  • Intellectual disability, autosomal dominant 142 tests
  • Intellectual disability, autosomal dominant 152 tests
  • Intellectual disability, autosomal dominant 162 tests
  • Intellectual disability, autosomal dominant 201 test
  • Intellectual disability, autosomal dominant 221 test
  • Intellectual disability, autosomal dominant 241 test
  • Intellectual disability, autosomal dominant 271 test
  • Intellectual disability, autosomal dominant 291 test
  • Intellectual disability, autosomal dominant 31 test
  • Intellectual disability, autosomal dominant 301 test
  • Intellectual disability, autosomal dominant 331 test
  • Intellectual disability, autosomal dominant 341 test
  • Intellectual disability, autosomal dominant 381 test
  • Intellectual disability, autosomal dominant 391 test
  • Intellectual disability, autosomal dominant 401 test
  • Intellectual disability, autosomal dominant 411 test
  • Intellectual disability, autosomal dominant 421 test
  • Intellectual disability, autosomal dominant 431 test
  • Intellectual disability, autosomal dominant 451 test
  • Intellectual disability, autosomal dominant 461 test
  • Intellectual disability, autosomal dominant 471 test
  • Intellectual disability, autosomal dominant 481 test
  • Intellectual disability, autosomal dominant 51 test
  • Intellectual disability, autosomal dominant 501 test
  • Intellectual disability, autosomal dominant 511 test
  • Intellectual disability, autosomal dominant 521 test
  • Intellectual disability, autosomal dominant 531 test
  • Intellectual disability, autosomal dominant 541 test
  • Intellectual disability, autosomal dominant 55, with seizures1 test
  • Intellectual disability, autosomal dominant 561 test
  • Intellectual disability, autosomal dominant 571 test
  • Intellectual disability, autosomal dominant 581 test
  • Intellectual disability, autosomal dominant 61 test
  • Intellectual disability, autosomal dominant 91 test
  • Intellectual disability, autosomal recessive 11 test
  • Intellectual disability, autosomal recessive 121 test
  • Intellectual disability, autosomal recessive 131 test
  • Intellectual disability, autosomal recessive 141 test
  • Intellectual disability, autosomal recessive 181 test
  • Intellectual disability, autosomal recessive 21 test
  • Intellectual disability, autosomal recessive 271 test
  • Intellectual disability, autosomal recessive 31 test
  • Intellectual disability, autosomal recessive 341 test
  • Intellectual disability, autosomal recessive 421 test
  • Intellectual disability, autosomal recessive 431 test
  • Intellectual disability, autosomal recessive 441 test
  • Intellectual disability, autosomal recessive 451 test
  • Intellectual disability, autosomal recessive 461 test
  • Intellectual disability, autosomal recessive 471 test
  • Intellectual disability, autosomal recessive 51 test
  • Intellectual disability, autosomal recessive 501 test
  • Intellectual disability, autosomal recessive 511 test
  • Intellectual disability, autosomal recessive 521 test
  • Intellectual disability, autosomal recessive 531 test
  • Intellectual disability, autosomal recessive 541 test
  • Intellectual disability, autosomal recessive 561 test
  • Intellectual disability, autosomal recessive 571 test
  • Intellectual disability, autosomal recessive 581 test
  • Intellectual disability, autosomal recessive 591 test
  • Intellectual disability, autosomal recessive 61 test
  • Intellectual disability, autosomal recessive 601 test
  • Intellectual disability, autosomal recessive 611 test
  • Intellectual disability, autosomal recessive 631 test
  • Intellectual disability, autosomal recessive 641 test
  • Intellectual disability, autosomal recessive 651 test
  • Intellectual disability, autosomal recessive 661 test
  • Intellectual disability, autosomal recessive 71 test
  • Intellectual disability, X-linked 11 test
  • Intellectual disability, X-linked 1001 test
  • Intellectual disability, X-linked 1011 test
  • Intellectual disability, X-linked 1021 test
  • Intellectual disability, X-linked 1031 test
  • Intellectual disability, X-linked 1041 test
  • Intellectual disability, X-linked 1051 test
  • Intellectual disability, X-linked 1061 test
  • Intellectual disability, X-linked 1071 test
  • Intellectual disability, X-linked 191 test
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked 301 test
  • Intellectual disability, X-linked 411 test
  • Intellectual disability, X-linked 491 test
  • Intellectual disability, X-linked 581 test
  • Intellectual disability, X-linked 611 test
  • Intellectual disability, X-linked 631 test
  • Intellectual disability, X-linked 721 test
  • Intellectual disability, X-linked 91 test
  • Intellectual disability, X-linked 901 test
  • Intellectual disability, X-linked 911 test
  • Intellectual disability, X-linked 931 test
  • Intellectual disability, X-linked 961 test
  • Intellectual disability, X-linked 971 test
  • Intellectual disability, X-linked 991 test
  • Intellectual disability, X-linked 99, syndromic, female-restricted1 test
  • Intellectual disability, X-linked syndromic, Turner type1 test
  • Intellectual disability, X-linked, syndromic 331 test
  • Intellectual disability, X-linked, syndromic, 351 test
  • Intellectual disability, X-linked, syndromic, Bain type1 test
  • Intellectual disability, X-linked, syndromic, Houge type1 test
  • Intellectual disability, X-linked, with or without seizures, arx-related1 test
  • Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1 test
  • Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1 test
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1 test
  • Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome1 test
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1 test
  • Intellectual disability-strabismus syndrome1 test
  • Interstitial lung disease due to ABCA3 deficiency1 test
  • Intestinal hypomagnesemia 11 test
  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies1 test
  • Invasive pneumococcal disease, protection against1 test
  • Invasive pneumococcal disease, recurrent isolated1 test
  • Isolated 17,20-lyase deficiency1 test
  • Isolated anhidrosis with normal sweat glands1 test
  • Isolated congenital digital clubbing1 test
  • Isolated coronal synostosis1 test
  • Isolated cryptophthalmia1 test
  • Isolated focal non-epidermolytic palmoplantar keratoderma1 test
  • Isolated growth hormone deficiency type IB1 test
  • Isolated growth hormone deficiency, type 41 test
  • Isolated growth hormone deficiency, type 51 test
  • isolated hypomyelination1 test
  • Isolated lutropin deficiency1 test
  • Isolated microphthalmia 21 test
  • Isolated microphthalmia 31 test
  • Isolated microphthalmia 41 test
  • Isolated microphthalmia 51 test
  • Isolated microphthalmia 61 test
  • Isolated microphthalmia 71 test
  • Isolated microphthalmia 81 test
  • Jackson-Weiss syndrome1 test
  • Jervell and Lange-Nielsen syndrome1 test
  • Joubert syndrome 11 test
  • Joubert syndrome 101 test
  • Joubert syndrome 121 test
  • Joubert syndrome 131 test
  • Joubert syndrome 141 test
  • Joubert syndrome 151 test
  • Joubert syndrome 161 test
  • Joubert syndrome 171 test
  • Joubert syndrome 181 test
  • Joubert syndrome 192 tests
  • Joubert syndrome 21 test
  • Joubert syndrome 201 test
  • Joubert syndrome 211 test
  • Joubert syndrome 221 test
  • Joubert syndrome 231 test
  • Joubert syndrome 241 test
  • Joubert syndrome 251 test
  • Joubert syndrome 261 test
  • Joubert syndrome 271 test
  • Joubert syndrome 281 test
  • JOUBERT SYNDROME 292 tests
  • Joubert syndrome 31 test
  • Joubert syndrome 301 test
  • Joubert syndrome 311 test
  • Joubert syndrome 321 test
  • Joubert syndrome 331 test
  • JOUBERT SYNDROME 342 tests
  • Joubert syndrome 351 test
  • Joubert syndrome 51 test
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 81 test
  • Joubert syndrome 91 test
  • Joubert syndrome with renal defect1 test
  • Junctional epidermolysis bullosa1 test
  • Juvenile cataract-microcornea-renal glucosuria syndrome1 test
  • Juvenile hemochromatosis1 test
  • Juvenile myelomonocytic leukemia1 test
  • Juvenile nephropathic cystinosis1 test
  • Juvenile onset Parkinson disease 19A1 test
  • Juvenile retinoschisis2 tests
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • Kartagener syndrome1 test
  • KCNQ3-related developmental disability2 tests
  • Keratoconus 11 test
  • Keratoconus 91 test
  • Keratosis follicularis1 test
  • Keratosis pilaris atrophicans1 test
  • Kindler syndrome2 tests
  • King Denborough syndrome1 test
  • Kleefstra syndrome 12 tests
  • Kleefstra syndrome 21 test
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1 test
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 2, autosomal recessive1 test
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Koolen-de Vries syndrome2 tests
  • Kostmann syndrome1 test
  • Kufor-Rakeb syndrome1 test
  • Lactic aciduria due to D-lactic acid1 test
  • Lafora disease1 test
  • LAMB2-related infantile-onset nephrotic syndrome1 test
  • Landau-Kleffner syndrome2 tests
  • Larsen syndrome1 test
  • Lateral meningocele syndrome1 test
  • Lattice corneal dystrophy Type I1 test
  • Lattice corneal dystrophy Type III1 test
  • Laurence-Moon syndrome1 test
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 101 test
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 132 tests
  • Leber congenital amaurosis 141 test
  • Leber congenital amaurosis 151 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 171 test
  • Leber congenital amaurosis 182 tests
  • Leber congenital amaurosis 21 test
  • Leber congenital amaurosis 31 test
  • Leber congenital amaurosis 41 test
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 61 test
  • Leber congenital amaurosis 71 test
  • Leber congenital amaurosis 81 test
  • Leber congenital amaurosis 91 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 102 tests
  • Left Ventricular Noncompaction 3, with or without Dilated Cardiomyopathy3 tests
  • Left ventricular noncompaction 42 tests
  • Left ventricular noncompaction 52 tests
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 82 tests
  • Left ventricular noncompaction 92 tests
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Lessel-kubisch syndrome1 test
  • Lethal arthrogryposis-anterior horn cell disease syndrome1 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital contracture syndrome 111 test
  • Lethal congenital contracture syndrome 21 test
  • Lethal congenital contracture syndrome 31 test
  • Lethal congenital contracture syndrome 41 test
  • Lethal congenital contracture syndrome 61 test
  • Lethal congenital contracture syndrome 71 test
  • Lethal congenital contracture syndrome 81 test
  • Lethal congenital contracture syndrome 91 test
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
  • Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1 test
  • Leukemia, acute myeloid, susceptibility to1 test
  • Leukocyte adhesion deficiency type II2 tests
  • Leukodystrophy1 test
  • Leukodystrophy, hypomyelinating, 141 test
  • Leukodystrophy, hypomyelinating, 151 test
  • Leukodystrophy, hypomyelinating, 161 test
  • Leukodystrophy, hypomyelinating, 171 test
  • Leukodystrophy, hypomyelinating, 181 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
  • Lewy body dementia1 test
  • Lhermitte-Duclos disease1 test
  • Li-Fraumeni syndrome3 tests
  • Lichtenstein-Knorr syndrome1 test
  • Liddle syndrome 11 test
  • Liddle syndrome 21 test
  • Liddle syndrome 31 test
  • Limb-girdle muscular dystrophy due to POMK deficiency1 test
  • Linear skin defects with multiple congenital anomalies 12 tests
  • Linear skin defects with multiple congenital anomalies 21 test
  • Linear skin defects with multiple congenital anomalies 31 test
  • LIPE-related familial partial lipodystrophy2 tests
  • Lipid proteinosis1 test
  • Lipoic acid synthetase deficiency1 test
  • Lissencephaly 41 test
  • Lissencephaly 6 with microcephaly1 test
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly 81 test
  • Lissencephaly 9 with complex brainstem malformation1 test
  • Lissencephaly due to LIS1 mutation1 test
  • Lissencephaly due to TUBA1A mutation1 test
  • Lissencephaly type 1 due to doublecortin gene mutation1 test
  • Loeys-Dietz syndrome1 test
  • Loeys-Dietz syndrome 12 tests
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 41 test
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Long QT syndrome 11 test
  • Long QT syndrome 102 tests
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 141 test
  • Long QT syndrome 151 test
  • Long QT syndrome 21 test
  • Long QT syndrome 2, acquired, susceptibility to1 test
  • Long QT syndrome 31 test
  • Long QT syndrome 41 test
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Long QT syndrome, acquired, reduced susceptibility to1 test
  • Low phospholipid associated cholelithiasis1 test
  • Lucey-Driscoll syndrome1 test
  • Lung carcinoid tumor1 test
  • Lung carcinoma1 test
  • Lymphatic malformation 31 test
  • Lymphatic malformation 41 test
  • Lymphatic malformation 61 test
  • Lymphatic malformation 71 test
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
  • Lymphedema-posterior choanal atresia syndrome1 test
  • Lymphoproliferative syndrome 11 test
  • Lymphoproliferative syndrome 21 test
  • Lynch syndrome13 tests
  • Lysinuric protein intolerance2 tests
  • Macrocephaly-developmental delay syndrome1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
  • Macular degeneration, age-related, 13, susceptibility to1 test
  • Macular degeneration, age-related, 31 test
  • Macular degeneration, age-related, neovascular type1 test
  • Majeed syndrome1 test
  • Malan overgrowth syndrome1 test
  • Malignant hyperthermia, susceptibility to, 11 test
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant neoplasm of endocrine gland2 tests
  • Malignant tumor of kidney2 tests
  • Malignant tumor of prostate1 test
  • Mandibuloacral dysplasia1 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Mandibulofacial dysostosis-microcephaly syndrome2 tests
  • Mannose-binding lectin deficiency1 test
  • Maple syrup urine disease1 test
  • Maple syrup urine disease type 1A1 test
  • Maple syrup urine disease type 1B1 test
  • Maple syrup urine disease type 21 test
  • Maple syrup urine disease, mild variant1 test
  • Marden-Walker syndrome1 test
  • MASA syndrome2 tests
  • Mast syndrome1 test
  • Matthew-Wood syndrome2 tests
  • McCune-Albright syndrome1 test
  • McKusick-Kaufman syndrome1 test
  • McLeod neuroacanthocytosis syndrome2 tests
  • Meckel syndrome 132 tests
  • Meckel syndrome, type 11 test
  • Meckel syndrome, type 102 tests
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 41 test
  • Meckel syndrome, type 51 test
  • Meckel syndrome, type 61 test
  • Meckel syndrome, type 81 test
  • Meckel syndrome, type 91 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 31 test
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 41 test
  • Megalencephalic leukoencephalopathy with subcortical cysts2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
  • MEGF8-related Carpenter syndrome1 test
  • MEHMO syndrome1 test
  • Meier-Gorlin syndrome 11 test
  • Meier-Gorlin syndrome 21 test
  • Meier-Gorlin syndrome 31 test
  • Meier-Gorlin syndrome 41 test
  • Meier-Gorlin syndrome 51 test
  • Meier-Gorlin syndrome 61 test
  • Meier-Gorlin syndrome 71 test
  • Meier-Gorlin syndrome 81 test
  • Melanoma2 tests
  • Melanoma, cutaneous malignant, susceptibility to, 101 test
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • Melanoma, cutaneous malignant, susceptibility to, 31 test
  • Melanoma, cutaneous malignant, susceptibility to, 51 test
  • Melanoma, cutaneous malignant, susceptibility to, 61 test
  • Melanoma, cutaneous malignant, susceptibility to, 81 test
  • Melanoma, cutaneous malignant, susceptibility to, 91 test
  • Melanoma-pancreatic cancer syndrome2 tests
  • Melnick-Needles syndrome1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
  • Menke-Hennekam syndrome 11 test
  • Menke-Hennekam syndrome 21 test
  • Meretoja syndrome1 test
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Metatropic dysplasia1 test
  • Methylmalonic acidemia1 test
  • Methylmalonic acidemia with homocystinuria, type cblX1 test
  • MGAT2-congenital disorder of glycosylation2 tests
  • MHC class I deficiency1 test
  • Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
  • Microcephalic primordial dwarfism, Alazami type1 test
  • Microcephaly 1, primary, autosomal recessive1 test
  • Microcephaly 11, primary, autosomal recessive1 test
  • Microcephaly 12, primary, autosomal recessive1 test
  • Microcephaly 13, primary, autosomal recessive1 test
  • Microcephaly 14, primary, autosomal recessive1 test
  • Microcephaly 15, primary, autosomal recessive1 test
  • Microcephaly 16, primary, autosomal recessive1 test
  • Microcephaly 17, primary, autosomal recessive1 test
  • Microcephaly 18, primary, autosomal dominant2 tests
  • Microcephaly 19, primary, autosomal recessive1 test
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1 test
  • Microcephaly 20, primary, autosomal recessive1 test
  • Microcephaly 21, primary, autosomal recessive1 test
  • Microcephaly 22, primary, autosomal recessive1 test
  • Microcephaly 23, primary, autosomal recessive1 test
  • Microcephaly 24, primary, autosomal recessive1 test
  • Microcephaly 25, primary, autosomal recessive1 test
  • Microcephaly 3, primary, autosomal recessive1 test
  • Microcephaly 4, primary, autosomal recessive1 test
  • Microcephaly 5, primary, autosomal recessive1 test
  • Microcephaly 6, primary, autosomal recessive1 test
  • Microcephaly 7, primary, autosomal recessive1 test
  • Microcephaly 8, primary, autosomal recessive1 test
  • Microcephaly 9, primary, autosomal recessive1 test
  • Microcephaly and chorioretinopathy 11 test
  • Microcephaly and chorioretinopathy 21 test
  • Microcephaly and chorioretinopathy 31 test
  • Microcephaly with Polymicrogyria1 test
  • Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Microcephaly, seizures, and developmental delay1 test
  • Microcephaly-capillary malformation syndrome1 test
  • Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome1 test
  • Microcephaly-thin corpus callosum-intellectual disability syndrome1 test
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 11 test
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 21 test
  • Microcytic anemia with liver iron overload1 test
  • Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1 test
  • Microphthalmia with brain and digit anomalies1 test
  • Microphthalmia with coloboma 31 test
  • Microphthalmia, isolated, with coloboma 101 test
  • Microphthalmia, isolated, with coloboma 51 test
  • Microphthalmia, isolated, with coloboma 61 test
  • Microphthalmia, isolated, with coloboma 71 test
  • Microphthalmia, isolated, with coloboma 82 tests
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 12 tests
  • Microphthalmia, syndromic 111 test
  • Microphthalmia, syndromic 121 test
  • Microvascular complications of diabetes, susceptibility to, 11 test
  • Microvascular complications of diabetes, susceptibility to, 21 test
  • Microvascular complications of diabetes, susceptibility to, 31 test
  • Microvascular complications of diabetes, susceptibility to, 41 test
  • Microvascular complications of diabetes, susceptibility to, 51 test
  • Microvascular complications of diabetes, susceptibility to, 61 test
  • Microvascular complications of diabetes, susceptibility to, 71 test
  • Mild late-onset parkinsonism1 test
  • Mirror movements 11 test
  • Mirror movements 21 test
  • Mirror movements 31 test
  • Mirror movements 41 test
  • Mitochondrial complex 1 deficiency, nuclear type 101 test
  • Mitochondrial complex 1 deficiency, nuclear type 111 test
  • Mitochondrial complex 1 deficiency, nuclear type 121 test
  • Mitochondrial complex 1 deficiency, nuclear type 131 test
  • Mitochondrial complex 1 deficiency, nuclear type 141 test
  • Mitochondrial complex 1 deficiency, nuclear type 151 test
  • Mitochondrial complex 1 deficiency, nuclear type 161 test
  • Mitochondrial complex 1 deficiency, nuclear type 171 test
  • Mitochondrial complex 1 deficiency, nuclear type 181 test
  • Mitochondrial complex 1 deficiency, nuclear type 191 test
  • Mitochondrial complex 1 deficiency, nuclear type 21 test
  • Mitochondrial complex 1 deficiency, nuclear type 211 test
  • Mitochondrial complex 1 deficiency, nuclear type 221 test
  • Mitochondrial complex 1 deficiency, nuclear type 231 test
  • Mitochondrial complex 1 deficiency, nuclear type 241 test
  • Mitochondrial complex 1 deficiency, nuclear type 251 test
  • Mitochondrial complex 1 deficiency, nuclear type 261 test
  • Mitochondrial complex 1 deficiency, nuclear type 271 test
  • Mitochondrial complex 1 deficiency, nuclear type 281 test
  • Mitochondrial complex 1 deficiency, nuclear type 291 test
  • Mitochondrial complex 1 deficiency, nuclear type 31 test
  • Mitochondrial complex 1 deficiency, nuclear type 301 test
  • Mitochondrial complex 1 deficiency, nuclear type 311 test
  • Mitochondrial complex 1 deficiency, nuclear type 321 test
  • Mitochondrial complex 1 deficiency, nuclear type 331 test
  • Mitochondrial complex 1 deficiency, nuclear type 41 test
  • Mitochondrial complex 1 deficiency, nuclear type 51 test
  • Mitochondrial complex 1 deficiency, nuclear type 61 test
  • Mitochondrial complex 1 deficiency, nuclear type 71 test
  • Mitochondrial complex 1 deficiency, nuclear type 81 test
  • Mitochondrial complex 1 deficiency, nuclear type 91 test
  • Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 51 test
  • Mitochondrial complex I deficiency, nuclear type 11 test
  • Mitochondrial complex III deficiency nuclear type 11 test
  • Mitochondrial complex III deficiency nuclear type 21 test
  • Mitochondrial complex III deficiency nuclear type 31 test
  • Mitochondrial complex III deficiency nuclear type 41 test
  • Mitochondrial complex III deficiency nuclear type 51 test
  • Mitochondrial complex III deficiency nuclear type 61 test
  • Mitochondrial complex III deficiency nuclear type 71 test
  • Mitochondrial complex III deficiency nuclear type 81 test
  • Mitochondrial complex III deficiency nuclear type 91 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 31 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 41 test
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
  • Mitochondrial DNA deletion syndrome with progressive myopathy1 test
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial DNA depletion syndrome 13 tests
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
  • Mitochondrial DNA depletion syndrome 132 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type);1 test
  • Mitochondrial DNA depletion syndrome 31 test
  • Mitochondrial DNA depletion syndrome 4b1 test
  • Mitochondrial DNA depletion syndrome 8a2 tests
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
  • Mitochondrial DNA depletion syndrome, myopathic form3 tests
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
  • Mitral valve prolapse, myxomatous 21 test
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 21 test
  • Miyoshi muscular dystrophy 31 test
  • MOGS-congenital disorder of glycosylation2 tests
  • Monocytopenia with susceptibility to infections1 test
  • Morning glory disc anomaly1 test
  • Mosaic variegated aneuploidy syndrome 11 test
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mosaic variegated aneuploidy syndrome 31 test
  • Moyamoya disease 21 test
  • Moyamoya disease 51 test
  • Moyamoya disease with early-onset achalasia1 test
  • MPDU1-congenital disorder of glycosylation1 test
  • MPI-congenital disorder of glycosylation1 test
  • Mucocutaneous ulceration, chronic1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis type 71 test
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-II1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-IV-A1 test
  • Mucopolysaccharidosis, MPS-IV-B3 tests
  • Muenke syndrome3 tests
  • Multicentric osteolysis, nodulosis, and arthropathy1 test
  • Multiminicore myopathy1 test
  • Multiple benign circumferential skin creases on limbs 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
  • Multiple congenital exostosis2 tests
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple endocrine neoplasia type 41 test
  • Multiple endocrine neoplasia, type 13 tests
  • Multiple endocrine neoplasia, type 22 tests
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b1 test
  • Multiple epiphyseal dysplasia type 11 test
  • Multiple epiphyseal dysplasia type 41 test
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple epiphyseal dysplasia, Al-Gazali type1 test
  • Multiple fibrofolliculomas4 tests
  • Multiple mitochondrial dysfunctions syndrome 11 test
  • Multiple mitochondrial dysfunctions syndrome 21 test
  • Multiple mitochondrial dysfunctions syndrome 31 test
  • Multiple mitochondrial dysfunctions syndrome 41 test
  • Multiple mitochondrial dysfunctions syndrome 51 test
  • Multiple mitochondrial dysfunctions syndrome 61 test
  • Multiple sclerosis modifier of disease progression1 test
  • Multiple sclerosis, susceptibility to 11 test
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple synostoses syndrome 21 test
  • Multiple synostoses syndrome 31 test
  • Multiple synostoses syndrome 41 test
  • Mungan syndrome1 test
  • Muscular dystrophy, limb-girdle, autosomal dominant 41 test
  • Muscular dystrophy, limb-girdle, autosomal recessive 231 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 71 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 82 tests
  • Muscular dystrophy-dystroglycanopathy type B51 test
  • Muscular dystrophy-dystroglycanopathy type B61 test
  • Myasthenic syndrome, congenital, 1B, fast-channel1 test
  • Myasthenic syndrome, congenital, 221 test
  • Myasthenic syndrome, congenital, 23, presynaptic1 test
  • Myasthenic syndrome, congenital, 24, presynaptic1 test
  • Myasthenic syndrome, congenital, 25, presynaptic1 test
  • Myasthenic syndrome, slow-channel congenital1 test
  • MYH7-related skeletal myopathy1 test
  • Myhre syndrome1 test
  • Myoclonic dystonia 111 test
  • Myoclonic dystonia 261 test
  • Myoclonus, familial, 11 test
  • Myoclonus, familial, 21 test
  • Myofibrillar myopathy 21 test
  • Myofibrillar myopathy 31 test
  • Myofibrillar myopathy 41 test
  • Myofibrillar myopathy 51 test
  • Myofibrillar myopathy 61 test
  • Myofibrillar myopathy 71 test
  • Myofibrillar myopathy 81 test
  • Myofibromatosis, infantile, 11 test
  • Myofibromatosis, infantile, 21 test
  • Myokymia 11 test
  • Myopathy, actin, congenital, with cores1 test
  • Myopathy, centronuclear, 21 test
  • Myopathy, centronuclear, 51 test
  • Myopathy, centronuclear, 6, with fiber-type disproportion2 tests
  • Myopathy, congenital proximal, with minicore lesions1 test
  • Myopathy, congenital, with respiratory insufficiency and bone fractures1 test
  • Myopathy, distal, with rimmed vacuoles1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 11 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, myofibrillar, 9, with early respiratory failure2 tests
  • Myopathy, tubular aggregate, 11 test
  • Myopathy, tubular aggregate, 21 test
  • Myopia 21, autosomal dominant1 test
  • Myopia 22, autosomal dominant1 test
  • Myopia 23, autosomal recessive1 test
  • Myopia 24, autosomal dominant1 test
  • Myopia 25, autosomal dominant1 test
  • Myopia 26, X-linked, female-limited1 test
  • Myopia 61 test
  • Myosclerosis1 test
  • Myostatin-related muscle hypertrophy1 test
  • Myotonic dystrophy type 21 test
  • MYPN-related myopathy1 test
  • N-acetylaspartate deficiency1 test
  • NAD(P)HX dehydratase deficiency1 test
  • Nager syndrome1 test
  • Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)1 test
  • Nail disorder, nonsyndromic congenital, 3, (leukonychia)1 test
  • Nail-patella syndrome2 tests
  • Nanophthalmos 21 test
  • Nanophthalmos 41 test
  • Narcolepsy 11 test
  • Narcolepsy 71 test
  • Navajo neurohepatopathy2 tests
  • NDE1-related microhydranencephaly1 test
  • NEK9-related lethal skeletal dysplasia1 test
  • Nemaline myopathy 11 test
  • Nemaline myopathy 101 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 3, autosomal dominant or recessive1 test
  • Nemaline myopathy 4, autosomal dominant1 test
  • Nemaline myopathy 51 test
  • Nemaline myopathy 61 test
  • Nemaline myopathy 71 test
  • Nemaline myopathy 81 test
  • Nemaline myopathy 91 test
  • Neonatal acute respiratory distress due to SP-B deficiency1 test
  • Neonatal diabetes mellitus with congenital hypothyroidism1 test
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Neonatal pseudo-hydrocephalic progeroid syndrome1 test
  • Neoplasm of stomach1 test
  • Nephrogenic diabetes insipidus1 test
  • Nephronophthisis 111 test
  • Nephronophthisis 121 test
  • Nephronophthisis 131 test
  • Nephronophthisis 142 tests
  • Nephronophthisis 151 test
  • Nephronophthisis 161 test
  • Nephronophthisis 181 test
  • Nephronophthisis 191 test
  • Nephronophthisis 201 test
  • Nephronophthisis 71 test
  • Nephronophthisis 91 test
  • Nephronophthisis-like nephropathy 11 test
  • Nephropathic cystinosis1 test
  • Nephrotic syndrome 141 test
  • Nephrotic syndrome 151 test
  • Nephrotic syndrome 161 test
  • Nephrotic syndrome, type 101 test
  • Nephrotic syndrome, type 111 test
  • Nephrotic syndrome, type 121 test
  • Nephrotic syndrome, type 131 test
  • Nephrotic syndrome, type 171 test
  • Nephrotic syndrome, type 181 test
  • Nephrotic syndrome, type 191 test
  • Nephrotic syndrome, type 21 test
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 41 test
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 91 test
  • Nestor-Guillermo progeria syndrome1 test
  • Neu-Laxova syndrome 11 test
  • Neu-Laxova syndrome 21 test
  • Neurocirculatory asthenia1 test
  • Neurodegeneration with brain iron accumulation 2B2 tests
  • Neurodegeneration with brain iron accumulation 42 tests
  • Neurodegeneration with brain iron accumulation 52 tests
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurodegeneration with brain iron accumulation 71 test
  • Neurodegeneration with brain iron accumulation 81 test
  • Neurodevelopmental disorder with alopecia and brain abnormalities1 test
  • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity1 test
  • Neurodevelopmental disorder with microcephaly, ataxia, and seizures1 test
  • Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy1 test
  • Neurodevelopmental disorder with midbrain and hindbrain malformations1 test
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1 test
  • Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies1 test
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation1 test
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, type 12 tests
  • Neurofibromatosis, type 22 tests
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 111 test
  • Neuronal ceroid lipofuscinosis 131 test
  • Neuronal ceroid lipofuscinosis 21 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
  • Neuronopathy, distal hereditary motor, type 2C1 test
  • Neuronopathy, distal hereditary motor, type 5A1 test
  • Neuronopathy, distal hereditary motor, type 5B1 test
  • Neuropathy, congenital hypomyelinating, 21 test
  • Neuropathy, congenital hypomyelinating, 31 test
  • Neuropathy, hereditary motor and sensory, type 6A1 test
  • Neuropathy, hereditary sensory and autonomic, type 2B1 test
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE1 test
  • Neuropathy, hereditary sensory, type 1D1 test
  • Neuropathy, hereditary sensory, type 1F1 test
  • Neuropathy, hereditary sensory, type 2C1 test
  • Neutropenia, severe congenital, 1, autosomal dominant1 test
  • Neutropenia, severe congenital, 2, autosomal dominant1 test
  • Nicolaides-Baraitser syndrome2 tests
  • Night blindness, congenital stationary (complete), 1A, X-linked1 test
  • Non syndromic Hirschsprung Disease1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
  • Non-ketotic hyperglycinemia2 tests
  • Nonprogressive cerebellar atxia with intellectual disability1 test
  • Nonsyndromic congenital nail disorder 81 test
  • Noonan syndrome 11 test
  • Noonan syndrome 101 test
  • Noonan syndrome 21 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 61 test
  • Noonan syndrome 71 test
  • Noonan syndrome 81 test
  • Noonan syndrome 91 test
  • Noonan syndrome-like disorder with loose anagen hair1 test
  • Noonan syndrome-like disorder with loose anagen hair 21 test
  • Norman-Roberts syndrome1 test
  • NPHP3-related Meckel-like syndrome1 test
  • Nystagmus 1, congenital, X-linked1 test
  • Nystagmus 6, congenital, X-linked1 test
  • Obesity due to pro-opiomelanocortin deficiency1 test
  • Occipital pachygyria and polymicrogyria1 test
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II1 test
  • Ocular cystinosis1 test
  • Oculocerebrofacial syndrome, Kaufman type1 test
  • Oculocutaneous albinism2 tests
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 42 tests
  • Oculocutaneous albinism type 61 test
  • Oculocutaneous albinism type 71 test
  • OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF1 test
  • Oculofaciocardiodental syndrome1 test
  • Oculomaxillofacial dysostosis1 test
  • Oculomotor-abducens synkinesis1 test
  • Oculootoradial syndrome1 test
  • Oculopharyngeal myopathy with leukoencephalopathy 11 test
  • Oculotrichoanal syndrome2 tests
  • Odontochondrodysplasia 2 with hearing loss and diabetes1 test
  • Oguchi disease1 test
  • Oguchi disease-21 test
  • Oligospermia1 test
  • Olmsted syndrome, X-linked1 test
  • Oocyte maturation defect 21 test
  • Oocyte maturation defect 31 test
  • Oocyte maturation defect 41 test
  • Oocyte maturation defect 51 test
  • Oocyte maturation defect 61 test
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
  • Optic atrophy 111 test
  • Optic atrophy 31 test
  • Optic atrophy 51 test
  • Optic nerve hypoplasia and abnormalities of the central nervous system1 test
  • Orofacial cleft 101 test
  • Orofacial cleft 111 test
  • Orofacial cleft 151 test
  • Orofacial cleft 51 test
  • Orofacial cleft 6, susceptibility to1 test
  • Orofacial cleft 71 test
  • Orofacial cleft 82 tests
  • Orofacial-digital syndrome IV1 test
  • Orofaciodigital syndrome 161 test
  • Orofaciodigital syndrome 171 test
  • Orofaciodigital syndrome 181 test
  • Orofaciodigital syndrome type 141 test
  • Orofaciodigital syndrome type 61 test
  • Orofaciodigital syndrome V1 test
  • Orofaciodigital syndrome XV1 test
  • Orthostatic hypotension 21 test
  • Osteochondrodysplasia, brachydactyly, and overlapping malformed digits1 test
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 111 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 131 test
  • Osteogenesis imperfecta type 141 test
  • Osteogenesis imperfecta type 151 test
  • Osteogenesis imperfecta type 161 test
  • Osteogenesis imperfecta type 171 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 61 test
  • Osteogenesis imperfecta type 71 test
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta, recessive perinatal lethal1 test
  • Osteogenesis imperfecta, type 181 test
  • Osteogenesis imperfecta, type 191 test
  • Osteogenesis imperfecta, type III/IV1 test
  • Osteopetrosis with renal tubular acidosis1 test
  • Osteopetrosis, autosomal dominant 31 test
  • Oto-palato-digital syndrome, type I1 test
  • Oto-palato-digital syndrome, type II1 test
  • Otofaciocervical syndrome1 test
  • Otofaciocervical syndrome 21 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
  • Ovarian cancer1 test
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 22 tests
  • Ovarian dysgenesis 31 test
  • Ovarian dysgenesis 51 test
  • Ovarian dysgenesis 61 test
  • Ovarian dysgenesis 71 test
  • Ovarian dysgenesis 81 test
  • Oxoglutaricaciduria1 test
  • Pachyonychia congenita syndrome1 test
  • Paganini-Miozzo syndrome2 tests
  • Paget disease of bone 2, early-onset1 test
  • Paget disease of bone 31 test
  • Paget disease of bone 61 test
  • Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome1 test
  • Pallister-Hall syndrome1 test
  • Pancreatic agenesis 11 test
  • Pancreatic agenesis 21 test
  • Pancreatic triacylglycerol lipase deficiency1 test
  • Pancytopenia due to IKZF1 mutations1 test
  • Pancytopenia-developmental delay syndrome1 test
  • Paragangliomas 11 test
  • Paragangliomas 21 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paragangliomas 51 test
  • Parathyroid adenoma with cystic changes1 test
  • Parietal foramina 11 test
  • Parietal foramina 21 test
  • Parkes Weber syndrome2 tests
  • Parkinson disease3 tests
  • Parkinson disease 11, autosomal dominant, susceptibility to1 test
  • Parkinson disease 13, autosomal dominant, susceptibility to1 test
  • Parkinson disease 171 test
  • Parkinson disease 18, autosomal dominant, susceptibility to1 test
  • Parkinson disease 19b, early-onset1 test
  • Parkinson disease 22, autosomal dominant1 test
  • Parkinson disease 5, autosomal dominant, susceptibility to1 test
  • Parkinson disease, late-onset1 test
  • Parkinsonian-pyramidal syndrome1 test
  • Parkinsonism-dystonia, infantile, 12 tests
  • Parkinsonism-dystonia, infantile, 21 test
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Paroxysmal nocturnal hemoglobinuria 21 test
  • Paroxysmal nonkinesigenic dyskinesia 12 tests
  • Partial adenosine deaminase deficiency1 test
  • Partial androgen insensitivity syndrome1 test
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Partington syndrome1 test
  • Patent ductus arteriosus 21 test
  • Patent ductus arteriosus 31 test
  • Patterned macular dystrophy 11 test
  • Patterned macular dystrophy 21 test
  • Patterned macular dystrophy 31 test
  • Peeling skin syndrome 11 test
  • Peeling skin syndrome 41 test
  • Peeling skin syndrome 51 test
  • Peeling skin syndrome 61 test
  • Peeling skin syndrome type A1 test
  • PEHO-like syndrome1 test
  • Pelizaeus-Merzbacher disease2 tests
  • Pelviscapular dysplasia1 test
  • Pendred syndrome1 test
  • PERCHING syndrome1 test
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive1 test
  • Periventricular nodular heterotopia2 tests
  • Periventricular nodular heterotopia 61 test
  • Periventricular nodular heterotopia 71 test
  • Periventricular nodular heterotopia 81 test
  • Permanent neonatal diabetes mellitus1 test
  • Permanent neonatal diabetes mellitus 11 test
  • Peroxisome biogenesis disorder 10A (Zellweger)1 test
  • Peroxisome biogenesis disorder 10B1 test
  • Peroxisome biogenesis disorder 11A (Zellweger)1 test
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A (Zellweger)1 test
  • Peroxisome biogenesis disorder 13A (Zellweger)1 test
  • Peroxisome biogenesis disorder 14B1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 1B1 test
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4B1 test
  • Peroxisome biogenesis disorder 5A (Zellweger)1 test
  • Peroxisome biogenesis disorder 5B1 test
  • Peroxisome biogenesis disorder 6A (Zellweger)1 test
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A (Zellweger)1 test
  • Peroxisome biogenesis disorder 7B1 test
  • Peroxisome biogenesis disorder 8A (Zellweger)1 test
  • Peroxisome biogenesis disorder 8B1 test
  • Peroxisome biogenesis disorder 9B2 tests
  • Peroxisome biogenesis disorder type 3B1 test
  • Perrault syndrome 11 test
  • Perrault syndrome 21 test
  • Perrault syndrome 31 test
  • Perrault syndrome 41 test
  • Perrault syndrome 51 test
  • Perrault syndrome 61 test
  • Perry syndrome1 test
  • Persistent hyperplastic primary vitreous2 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive1 test
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome2 tests
  • Pfeiffer syndrome1 test
  • Pfeiffer syndrome type 21 test
  • Pfeiffer syndrome type 31 test
  • Pfieffer syndrome type 11 test
  • PGM1-congenital disorder of glycosylation1 test
  • Phenylketonuria1 test
  • Pheochromocytoma-paraganglioma2 tests
  • PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1 test
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Pigmentary pallidal degeneration2 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented nodular adrenocortical disease, primary, 31 test
  • Pigmented nodular adrenocortical disease, primary, 41 test
  • Pili torti-deafness syndrome1 test
  • Pili torti-developmental delay-neurological abnormalities syndrome1 test
  • Pituitary adenoma 3, multiple types1 test
  • Pituitary adenoma 5, multiple types1 test
  • Pituitary adenoma predisposition1 test
  • Pituitary adenoma, growth hormone-secreting, 21 test
  • Pituitary dependent hypercortisolism1 test
  • Pituitary hormone deficiency, combined 51 test
  • Pituitary hormone deficiency, combined, 11 test
  • Pituitary hormone deficiency, combined, 21 test
  • Pituitary hormone deficiency, combined, 61 test
  • PLA2G6-associated neurodegeneration1 test
  • Platelet-type bleeding disorder 101 test
  • Platelet-type bleeding disorder 111 test
  • Platelet-type bleeding disorder 151 test
  • Platelet-type bleeding disorder 161 test
  • Platelet-type bleeding disorder 171 test
  • Platelet-type bleeding disorder 181 test
  • Platelet-type bleeding disorder 191 test
  • Platelet-type bleeding disorder 201 test
  • Platelet-type bleeding disorder 81 test
  • Platelet-type bleeding disorder 91 test
  • PLIN1-related familial partial lipodystrophy1 test
  • PMM2-congenital disorder of glycosylation1 test
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease 3 with or without polycystic liver disease1 test
  • Polycystic kidney disease 51 test
  • Polycystic kidney disease 6 with or without polycystic liver disease1 test
  • Polycystic kidney disease, adult type1 test
  • Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
  • Polycystic liver disease 15 tests
  • Polycystic liver disease 21 test
  • Polycystic liver disease 3 with or without kidney cysts1 test
  • Polycystic liver disease 4 with or without kidney cysts1 test
  • Polydactyly, preaxial type II1 test
  • Polyendocrine-polyneuropathy syndrome1 test
  • Polyglucosan body myopathy type 11 test
  • Polyglucosan body myopathy type 21 test
  • Polymicrogyria with optic nerve hypoplasia1 test
  • Polysyndactyly 41 test
  • Pontocerebellar hypoplasia type 101 test
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 1B2 tests
  • Pontocerebellar hypoplasia type 21 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 2D1 test
  • Pontocerebellar hypoplasia type 2E1 test
  • Pontocerebellar hypoplasia type 31 test
  • Pontocerebellar hypoplasia type 42 tests
  • Pontocerebellar hypoplasia type 52 tests
  • Pontocerebellar hypoplasia type 61 test
  • Pontocerebellar hypoplasia type 71 test
  • Pontocerebellar hypoplasia type 81 test
  • Pontocerebellar hypoplasia type 91 test
  • Pontocerebellar hypoplasia, type 111 test
  • Pontocerebellar hypoplasia, type 121 test
  • Pontocerebellar hypoplasia, type 1C1 test
  • Pontocerebellar hypoplasia, type 1D1 test
  • Pontocerebellar hypoplasia, type 2F1 test
  • Popliteal pterygium syndrome2 tests
  • Porencephaly 21 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Porokeratosis 7, multiple types1 test
  • Porokeratosis 8, disseminated superficial actinic type1 test
  • Porokeratosis 9, multiple types1 test
  • Porokeratosis of Mibelli1 test
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1 test
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 21 test
  • Posterior polymorphous corneal dystrophy 31 test
  • PPARG-related familial partial lipodystrophy1 test
  • Preaxial hand polydactyly1 test
  • Precocious puberty, central, 21 test
  • Predisposition to invasive fungal disease due to CARD9 deficiency1 test
  • Preeclampsia/eclampsia 41 test
  • Preeclampsia/eclampsia 51 test
  • Preimplantation embryonic lethality1 test
  • Preimplantation embryonic lethality 21 test
  • prelingual nonsyndromic hearing loss1 test
  • Premature ovarian failure2 tests
  • Premature ovarian failure 11 test
  • Premature ovarian failure 101 test
  • Premature ovarian failure 111 test
  • Premature ovarian failure 121 test
  • Premature ovarian failure 131 test
  • Premature ovarian failure 141 test
  • Premature ovarian failure 151 test
  • Premature ovarian failure 2A1 test
  • Premature ovarian failure 31 test
  • Premature ovarian failure 42 tests
  • Premature ovarian failure 51 test
  • Premature ovarian failure 61 test
  • Premature ovarian failure 71 test
  • Premature ovarian failure 81 test
  • Premature ovarian failure 91 test
  • Primary adrenocortical insufficiency2 tests
  • Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders1 test
  • Primary ciliary dyskinesia 101 test
  • Primary ciliary dyskinesia 111 test
  • Primary ciliary dyskinesia 121 test
  • Primary ciliary dyskinesia 131 test
  • Primary ciliary dyskinesia 141 test
  • Primary ciliary dyskinesia 151 test
  • Primary ciliary dyskinesia 161 test
  • Primary ciliary dyskinesia 171 test
  • Primary ciliary dyskinesia 181 test
  • Primary ciliary dyskinesia 191 test
  • Primary ciliary dyskinesia 21 test
  • Primary ciliary dyskinesia 201 test
  • Primary ciliary dyskinesia 211 test
  • Primary ciliary dyskinesia 221 test
  • Primary ciliary dyskinesia 231 test
  • Primary ciliary dyskinesia 241 test
  • Primary ciliary dyskinesia 251 test
  • Primary ciliary dyskinesia 261 test
  • Primary ciliary dyskinesia 271 test
  • Primary ciliary dyskinesia 281 test
  • Primary ciliary dyskinesia 291 test
  • Primary ciliary dyskinesia 31 test
  • Primary ciliary dyskinesia 301 test
  • Primary ciliary dyskinesia 321 test
  • Primary ciliary dyskinesia 331 test
  • Primary ciliary dyskinesia 341 test
  • Primary ciliary dyskinesia 351 test
  • Primary ciliary dyskinesia 51 test
  • Primary ciliary dyskinesia 61 test
  • Primary ciliary dyskinesia 71 test
  • Primary ciliary dyskinesia 91 test
  • Primary coenzyme Q10 deficiency 81 test
  • Primary erythromelalgia1 test
  • Primary familial polycythemia due to EPO receptor mutation2 tests
  • Primary hyperoxaluria type 32 tests
  • Primary hyperoxaluria, type I3 tests
  • Primary hyperoxaluria, type II2 tests
  • Primary hypomagnesemia1 test
  • Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1 test
  • Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection1 test
  • Primary progressive aphasia1 test
  • Progressive bifocal chorioretinal atrophy1 test
  • Progressive bulbar palsy of childhood1 test
  • Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
  • Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
  • Progressive familial heart block type IB1 test
  • Progressive familial heart block, type 1A1 test
  • Progressive familial intrahepatic cholestasis type 11 test
  • Progressive familial intrahepatic cholestasis type 21 test
  • Progressive familial intrahepatic cholestasis type 31 test
  • Progressive myoclonic epilepsy type 31 test
  • Progressive myoclonic epilepsy type 61 test
  • Progressive myoclonic epilepsy type 71 test
  • Progressive myoclonic epilepsy type 81 test
  • Progressive myoclonic epilepsy type 91 test
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive scapulohumeroperoneal distal myopathy1 test
  • Progressive sclerosing poliodystrophy2 tests
  • Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome1 test
  • Progressive supranuclear ophthalmoplegia1 test
  • Prolidase deficiency2 tests
  • Protan defect1 test
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms1 test
  • Proteasome-associated autoinflammatory syndrome 21 test
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms1 test
  • PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC1 test
  • Protein-losing enteropathy1 test
  • Proteus syndrome1 test
  • Protoporphyria, erythropoietic, 13 tests
  • Proximal symphalangism 1A1 test
  • Pseudo von Willebrand disease1 test
  • Pseudo-TORCH syndrome 11 test
  • Pseudo-TORCH syndrome 21 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • Pseudohypoaldosteronism type 2A1 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudoxanthoma elasticum2 tests
  • Psoriasis 1, susceptibility to1 test
  • Psoriasis 13, susceptibility to1 test
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis 21 test
  • Psoriasis, protection against1 test
  • Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 11 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 31 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41 test
  • Pulmonary fibrosis, idiopathic, susceptibility to1 test
  • Pulmonary hypertension, familial primary, 1, with or without HHT1 test
  • Pulmonary hypertension, primary, 21 test
  • Pulmonary hypertension, primary, 31 test
  • Pulmonary hypertension, primary, 41 test
  • Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated1 test
  • Pulmonary venoocclusive disease 11 test
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2 tests
  • PYCR1-related de Barsy syndrome1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate carboxylase deficiency1 test
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Pyruvate dehydrogenase E1-beta deficiency1 test
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase E3 deficiency2 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency1 test
  • Pyruvate kinase hyperactivity1 test
  • Quebec platelet disorder1 test
  • Radial aplasia-thrombocytopenia syndrome3 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 21 test
  • Rafiq syndrome1 test
  • Rajab interstitial lung disease with brain calcifications 21 test
  • Rapp-Hodgkin ectodermal dysplasia syndrome1 test
  • Recurrent Neisseria infections due to factor D deficiency1 test
  • Recurrent pregnancy loss 41 test
  • Refsum disease, adult, 11 test
  • Reis-Bucklers' corneal dystrophy1 test
  • Renal amyloidosis1 test
  • Renal carnitine transport defect1 test
  • Renal cell carcinoma, papillary, 12 tests
  • Renal coloboma syndrome1 test
  • Renal hypodysplasia/aplasia 11 test
  • Renal hypodysplasia/aplasia 21 test
  • Renal hypodysplasia/aplasia 31 test
  • Renal hypomagnesemia 21 test
  • Renal hypomagnesemia 41 test
  • Renal hypomagnesemia 5 with ocular involvement1 test
  • Renal hypomagnesemia 61 test
  • Renal-hepatic-pancreatic dysplasia 11 test
  • Renal-hepatic-pancreatic dysplasia 21 test
  • Renpenning syndrome1 test
  • Respiratory papillomatosis, juvenile recurrent, congenital1 test
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal arterial tortuosity1 test
  • Retinal dystrophy and obesity1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
  • Retinal dystrophy, early-onset severe1 test
  • Retinal dystrophy, early-onset, with or without pituitary dysfunction1 test
  • Retinitis pigmentosa2 tests
  • Retinitis pigmentosa 11 test
  • Retinitis pigmentosa 101 test
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 121 test
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 141 test
  • Retinitis pigmentosa 171 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 251 test
  • Retinitis pigmentosa 261 test
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 31 test
  • Retinitis pigmentosa 301 test
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 391 test
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 481 test
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 501 test
  • Retinitis pigmentosa 511 test
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 642 tests
  • Retinitis pigmentosa 652 tests
  • Retinitis pigmentosa 661 test
  • Retinitis pigmentosa 671 test
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 71 test
  • Retinitis pigmentosa 7 and digenic form1 test
  • Retinitis pigmentosa 7, digenic form2 tests
  • Retinitis pigmentosa 701 test
  • Retinitis pigmentosa 711 test
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 731 test
  • Retinitis pigmentosa 741 test
  • Retinitis pigmentosa 751 test
  • Retinitis pigmentosa 761 test
  • Retinitis pigmentosa 771 test
  • Retinitis pigmentosa 781 test
  • Retinitis pigmentosa 791 test
  • Retinitis pigmentosa 801 test
  • Retinitis pigmentosa 811 test
  • Retinitis pigmentosa 831 test
  • Retinitis pigmentosa 841 test
  • Retinitis pigmentosa 851 test
  • Retinitis pigmentosa with or without situs inversus1 test
  • Retinitis pigmentosa, juvenile1 test
  • Retinitis pigmentosa, juvenile, autosomal recessive1 test
  • RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED1 test
  • Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
  • Retinoblastoma2 tests
  • Retinopathy of prematurity3 tests
  • Revesz syndrome1 test
  • Reynolds syndrome1 test
  • RFT1-congenital disorder of glycosylation1 test
  • Rhabdoid tumor predisposition syndrome 11 test
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhabdoid tumors, somatic1 test
  • Rhizomelic chondrodysplasia punctata type 12 tests
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Rhizomelic chondrodysplasia punctata type 51 test
  • RHYNS syndrome1 test
  • Riboflavin transporter deficiency1 test
  • Rienhoff syndrome1 test
  • Ritscher-Schinzel syndrome 21 test
  • Roberts-SC phocomelia syndrome1 test
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1 test
  • Rothmund-Thomson syndrome2 tests
  • Rotor syndrome2 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations1 test
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
  • Saethre-Chotzen syndrome2 tests
  • Saldino-Mainzer syndrome1 test
  • Salla disease1 test
  • Sarcotubular myopathy1 test
  • Scapuloperoneal spinal muscular atrophy, autosomal recessive1 test
  • Schimke immuno-osseous dysplasia1 test
  • Schnyder crystalline corneal dystrophy1 test
  • Schuurs-Hoeijmakers syndrome1 test
  • Schwannomatosis 21 test
  • SCHWANNOMATOSIS, SOMATIC1 test
  • Schwannomatosis-1, susceptibility to1 test
  • Sclerosteosis 11 test
  • Sclerosteosis 21 test
  • SCOTT SYNDROME1 test
  • Seckel syndrome 11 test
  • Seckel syndrome 101 test
  • Seckel syndrome 21 test
  • Seckel syndrome 41 test
  • Seckel syndrome 51 test
  • Seckel syndrome 61 test
  • Seckel syndrome 71 test
  • Seckel syndrome 81 test
  • Seckel syndrome 91 test
  • Seizures, benign familial infantile, 21 test
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial infantile, 51 test
  • Seizures, benign familial neonatal, 21 test
  • Seizures, benign neonatal, 11 test
  • Sengers syndrome1 test
  • Senior-Loken syndrome 11 test
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 51 test
  • Senior-Loken syndrome 61 test
  • Senior-Loken syndrome 71 test
  • Senior-Loken syndrome 81 test
  • Senior-Loken syndrome 91 test
  • Sensorineural deafness with mild renal dysfunction1 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Septo-optic dysplasia sequence1 test
  • SERKAL syndrome1 test
  • Severe combined immunodeficiency due to CARD11 deficiency1 test
  • Severe combined immunodeficiency due to CARMIL2 deficiency1 test
  • Severe combined immunodeficiency due to CD70 deficiency1 test
  • Severe combined immunodeficiency due to CORO1A deficiency1 test
  • Severe combined immunodeficiency due to CTPS1 deficiency1 test
  • Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
  • Severe combined immunodeficiency due to IKK2 deficiency1 test
  • Severe combined immunodeficiency due to LAT deficiency1 test
  • Severe combined immunodeficiency due to LCK deficiency1 test
  • Severe congenital hypochromic anemia with ringed sideroblasts1 test
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1 test
  • Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1 test
  • Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome1 test
  • Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1 test
  • Severe intellectual disability-progressive spastic diplegia syndrome1 test
  • Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome1 test
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Severe X-linked mitochondrial encephalomyopathy1 test
  • Severe X-linked myotubular myopathy3 tests
  • Short QT syndrome type 11 test
  • Short QT syndrome type 21 test
  • Short QT syndrome type 31 test
  • Short stature and microcephaly with genital anomalies1 test
  • Short stature due to primary acid-labile subunit deficiency1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
  • SHORT syndrome1 test
  • Short-rib thoracic dysplasia 10 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 11 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 13 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 14 with polydactyly1 test
  • Short-rib thoracic dysplasia 15 with polydactyly1 test
  • Short-rib thoracic dysplasia 16 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 17 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 18 with polydactyly1 test
  • Short-rib thoracic dysplasia 19 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 20 with polydactyly1 test
  • Short-rib thoracic dysplasia 6 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 8 with or without polydactyly1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman-Diamond syndrome 13 tests
  • Shwachman-Diamond syndrome 21 test
  • Sialuria1 test
  • Sick sinus syndrome 11 test
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sick sinus syndrome 3, susceptibility to1 test
  • Sideroblastic anemia 21 test
  • Sideroblastic anemia 31 test
  • Singleton-Merten syndrome 11 test
  • Singleton-Merten syndrome 21 test
  • Sitosterolemia1 test
  • Skin creases, congenital symmetric circumferential, 21 test
  • SLC35A1-congenital disorder of glycosylation2 tests
  • SLC35A2-congenital disorder of glycosylation3 tests
  • SLC39A8-CDG2 tests
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-McCort dysplasia1 test
  • Smith-McCort dysplasia 21 test
  • Solid tumor2 tests
  • Somatotroph adenoma1 test
  • Sotos syndrome 11 test
  • Sotos syndrome 31 test
  • Spastic ataxia 11 test
  • Spastic ataxia 21 test
  • Spastic ataxia 31 test
  • Spastic ataxia 41 test
  • Spastic ataxia 51 test
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
  • Spastic ataxia 9, autosomal recessive1 test
  • Spastic paraplegia 52, autosomal recessive1 test
  • Spastic paraplegia 80, autosomal dominant1 test
  • Specific granule deficiency 11 test
  • Specific granule deficiency 21 test
  • Specific language impairment 51 test
  • Spermatogenic failure 101 test
  • Spermatogenic failure 111 test
  • Spermatogenic failure 121 test
  • Spermatogenic failure 131 test
  • Spermatogenic failure 141 test
  • Spermatogenic failure 151 test
  • Spermatogenic failure 161 test
  • Spermatogenic failure 171 test
  • Spermatogenic failure 181 test
  • Spermatogenic failure 191 test
  • Spermatogenic failure 201 test
  • Spermatogenic failure 211 test
  • Spermatogenic failure 221 test
  • Spermatogenic failure 231 test
  • Spermatogenic failure 241 test
  • Spermatogenic failure 251 test
  • Spermatogenic failure 261 test
  • Spermatogenic failure 271 test
  • Spermatogenic failure 281 test
  • Spermatogenic failure 291 test
  • Spermatogenic failure 31 test
  • Spermatogenic failure 301 test
  • Spermatogenic failure 311 test
  • Spermatogenic failure 321 test
  • Spermatogenic failure 331 test
  • Spermatogenic failure 341 test
  • Spermatogenic failure 351 test
  • Spermatogenic failure 361 test
  • Spermatogenic failure 371 test
  • Spermatogenic failure 381 test
  • Spermatogenic failure 41 test
  • Spermatogenic failure 71 test
  • Spermatogenic failure 81 test
  • Spermatogenic failure 91 test
  • Spermatogenic failure, X-linked, 21 test
  • Spermatogenic failure, Y-linked, 21 test
  • Spheroid body myopathy1 test
  • Spinal muscular atrophy with congenital bone fractures 11 test
  • Spinal muscular atrophy with congenital bone fractures 21 test
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia 441 test
  • Spinocerebellar ataxia 451 test
  • Spinocerebellar ataxia 461 test
  • Spinocerebellar ataxia 471 test
  • Spinocerebellar ataxia 481 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 112 tests
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 132 tests
  • Spinocerebellar ataxia type 142 tests
  • Spinocerebellar ataxia type 15/163 tests
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 22 tests
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 282 tests
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 311 test
  • Spinocerebellar ataxia type 341 test
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 361 test
  • Spinocerebellar ataxia type 371 test
  • Spinocerebellar ataxia type 381 test
  • Spinocerebellar ataxia type 41 test
  • Spinocerebellar ataxia type 401 test
  • Spinocerebellar ataxia type 411 test
  • Spinocerebellar ataxia type 421 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia with epilepsy1 test
  • Spinocerebellar ataxia, autosomal recessive 221 test
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive 251 test
  • Spinocerebellar ataxia, autosomal recessive 261 test
  • Spinocerebellar ataxia, autosomal recessive 271 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
  • Split hand-foot malformation 1 with sensorineural hearing loss1 test
  • Split hand-foot malformation 42 tests
  • Split hand-foot malformation 61 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocostal dysostosis 1, autosomal recessive1 test
  • Spondylocostal dysostosis 2, autosomal recessive1 test
  • Spondylocostal dysostosis 3, autosomal recessive1 test
  • Spondylocostal dysostosis 4, autosomal recessive1 test
  • Spondylocostal dysostosis 51 test
  • Spondylocostal dysostosis 6, autosomal recessive1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 31 test
  • Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
  • Spondyloepimetaphyseal dysplasia, di rocco type1 test
  • Spondyloepimetaphyseal dysplasia, Krakow type1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type1 test
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondyloepiphyseal dysplasia, Kimberley type1 test
  • Spondyloepiphyseal dysplasia, kondo-fu type1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spongy degeneration of central nervous system1 test
  • SRD5A3-congenital disorder of glycosylation1 test
  • SSR4-congenital disorder of glycosylation1 test
  • STAT3-related early-onset multisystem autoimmune disease1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome type 11 test
  • Stickler syndrome type 21 test
  • Stickler syndrome, type 41 test
  • Stickler syndrome, type 51 test
  • Stickler syndrome, type I, nonsyndromic ocular1 test
  • Striatal degeneration, autosomal dominant1 test
  • Striatonigral degeneration, childhood-onset1 test
  • STT3A-congenital disorder of glycosylation1 test
  • STT3B-congenital disorder of glycosylation1 test
  • Stuttering, familial persistent, 11 test
  • Subcortical band heterotopia1 test
  • Subcortical laminal heterotopia, X-linked1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria1 test
  • Sudden cardiac failure, alcohol-induced1 test
  • Sulfite oxidase deficiency1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
  • Surfactant metabolism dysfunction, pulmonary, 21 test
  • Surfactant metabolism dysfunction, pulmonary, 41 test
  • Surfactant metabolism dysfunction, pulmonary, 51 test
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
  • Symmetrical dyschromatosis of extremities1 test
  • Symphalangism, proximal, 1B1 test
  • Symphalangism-brachydactyly syndrome1 test
  • Syndromic Hirschsprung Disease1 test
  • Syndromic microphthalmia type 51 test
  • Syndromic X-linked intellectual disability 141 test
  • Syndromic X-linked intellectual disability 341 test
  • Syndromic X-linked intellectual disability 942 tests
  • Syndromic X-linked intellectual disability Claes-Jensen type1 test
  • Syndromic X-linked intellectual disability Hedera type1 test
  • Syndromic X-linked intellectual disability Lubs type2 tests
  • Syndromic X-linked intellectual disability Najm type1 test
  • Syndromic X-linked intellectual disability Nascimento type1 test
  • Syndromic X-linked intellectual disability Raymond type1 test
  • Syndromic X-linked intellectual disability Shashi type1 test
  • Syndromic X-linked intellectual disability Siderius type1 test
  • Syndromic X-linked intellectual disability Snyder type1 test
  • TCF12-related craniosynostosis1 test
  • TCR-alpha-beta-positive T-cell deficiency1 test
  • Telangiectasia, hereditary hemorrhagic, type 11 test
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • temperature sensitive nonsyndromic auditory neuropathy1 test
  • Terminal osseous dysplasia-pigmentary defects syndrome1 test
  • Testicular anomalies with or without congenital heart disease1 test
  • Tetraamelia syndrome 11 test
  • TFRC-related combined immunodeficiency1 test
  • Thanatophoric dysplasia type 11 test
  • Thiel-Behnke corneal dystrophy1 test
  • Thiopurine methyltransferase deficiency1 test
  • Thiopurines, poor metabolism of, 21 test
  • THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome1 test
  • Thrombocythemia 11 test
  • Thrombocythemia 21 test
  • Thrombocythemia 31 test
  • Thrombocytopenia1 test
  • Thrombocytopenia 61 test
  • Thrombocytopenia, anemia, and myelofibrosis1 test
  • Thromboembolism, susceptibility to1 test
  • Thrombomodulin-related bleeding disorder1 test
  • Thrombophilia due to activated protein C resistance2 tests
  • Thrombophilia due to elevated histidine-rich glycoprotein1 test
  • Thrombophilia due to HRG deficiency1 test
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein C deficiency, autosomal recessive1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thrombophilia due to thrombin defect2 tests
  • Thrombophilia, familial, due to decreased release of PLAT1 test
  • Thrombophilia, susceptibility to, due to factor V Leiden1 test
  • Thrombophilia, X-linked, due to factor 9 defect1 test
  • Thromboxane synthase deficiency1 test
  • Thyroid cancer, nonmedullary, 11 test
  • Thyroid cancer, nonmedullary, 21 test
  • Thyroid cancer, nonmedullary, 41 test
  • Thyroid cancer, nonmedullary, 51 test
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Thyrotoxic periodic paralysis, susceptibility to, 21 test
  • Timothy syndrome2 tests
  • TMEM165-congenital disorder of glycosylation2 tests
  • TMEM199-CDG2 tests
  • Tooth agenesis, selective, 11 test
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 41 test
  • Tooth agenesis, selective, 71 test
  • Tooth agenesis, selective, 81 test
  • Tooth agenesis, selective, 91 test
  • Tooth agenesis, selective, X-linked, 11 test
  • Torsion dystonia 21 test
  • Torsion dystonia 41 test
  • Torsion dystonia 61 test
  • Townes-Brocks syndrome 11 test
  • Townes-Brocks syndrome 21 test
  • Townes-Brocks-branchiootorenal-like syndrome1 test
  • Treacher Collins syndrome2 tests
  • Tremor, hereditary essential, 11 test
  • Tremor, hereditary essential, 41 test
  • Tremor, hereditary essential, 51 test
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1 test
  • Trichorhinophalangeal dysplasia type I2 tests
  • Trichothiodystrophy 1, photosensitive1 test
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy 4, nonphotosensitive1 test
  • Trichothiodystrophy 5, nonphotosensitive1 test
  • Trichothiodystrophy 6, nonphotosensitive1 test
  • Trichotillomania1 test
  • Triglyceride storage disease with ichthyosis1 test
  • Trigonocephaly 11 test
  • Trigonocephaly 21 test
  • Trimethylaminuria1 test
  • Triphalangeal thumb, type I1 test
  • Triphalangeal thumb-polysyndactyly syndrome1 test
  • Troyer syndrome2 tests
  • Tsc2 angiomyolipomas, renal, modifier of1 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Tubulinopathies1 test
  • Tumoral calcinosis, hyperphosphatemic, familial, 31 test
  • TWIST1-related craniosynostosis2 tests
  • Type 1 diabetes mellitus 21 test
  • Type 1 diabetes mellitus 201 test
  • Type 2 diabetes mellitus1 test
  • Type I complement component 8 deficiency1 test
  • Type II complement component 8 deficiency1 test
  • Tyrosinase-negative oculocutaneous albinism2 tests
  • Ubiquitous Glucose-6-Phosphatase Deficiency1 test
  • Ullrich congenital muscular dystrophy 12 tests
  • Ullrich congenital muscular dystrophy 21 test
  • Uncombable hair syndrome 21 test
  • Uncombable hair syndrome 31 test
  • Unverricht-Lundborg syndrome1 test
  • Urinary bladder, atony of1 test
  • Urocanate hydratase deficiency1 test
  • Urofacial syndrome 21 test
  • Urofacial syndrome type 11 test
  • Uruguay Faciocardiomusculoskeletal syndrome1 test
  • Usher syndrome type 1B1 test
  • Usher syndrome type 1C1 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1F1 test
  • Usher syndrome type 1G1 test
  • Usher syndrome type 1J1 test
  • Usher syndrome type 2A1 test
  • Usher syndrome type 2C1 test
  • Usher syndrome type 2D1 test
  • Usher syndrome type 31 test
  • Usher syndrome type 3B1 test
  • Usher syndrome, type 41 test
  • USHER SYNDROME, TYPE ID/F, DIGENIC1 test
  • Usher syndrome, type IIC, GPR98/PDZD7 digenic1 test
  • UV-sensitive syndrome 11 test
  • UV-sensitive syndrome 21 test
  • UV-sensitive syndrome 31 test
  • Uveal coloboma-cleft lip and palate-intellectual disability1 test
  • VACTERL with hydrocephalus1 test
  • Van der Woude syndrome 12 tests
  • Van Maldergem syndrome 11 test
  • Van Maldergem syndrome 21 test
  • Variegate porphyria1 test
  • Vas deferens, congenital bilateral aplasia of, X-linked1 test
  • Venous thromboembolism, susceptibility to1 test
  • Ventricular septal defect 11 test
  • Ventricular septal defect 21 test
  • Ventricular septal defect 31 test
  • VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 61 test
  • Vertebral hypersegmentation and orofacial anomalies1 test
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Vesicoureteral reflux 81 test
  • Visceral neuropathy, familial, 2, autosomal recessive1 test
  • Visual impairment and progressive phthisis bulbi1 test
  • Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
  • Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
  • Vitelliform macular dystrophy 22 tests
  • Vitelliform macular dystrophy 41 test
  • Vitelliform macular dystrophy 51 test
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia1 test
  • Von Hippel-Lindau syndrome2 tests
  • von Willebrand disorder2 tests
  • Waardenburg syndrome type 13 tests
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C1 test
  • Waardenburg syndrome/albinism, digenic1 test
  • Waardenburg syndrome/ocular albinism, digenic1 test
  • Wagner syndrome1 test
  • Warburg micro syndrome 11 test
  • Warburg micro syndrome 21 test
  • Warburg micro syndrome 31 test
  • Warburg micro syndrome 41 test
  • Weaver syndrome1 test
  • Webb-Dattani syndrome1 test
  • Weill-Marchesani 4 syndrome, recessive1 test
  • Weill-Marchesani syndrome 11 test
  • Weill-Marchesani syndrome 2, dominant1 test
  • Weill-Marchesani syndrome 31 test
  • Werner syndrome2 tests
  • WHIM syndrome 21 test
  • White sponge nevus 11 test
  • White sponge nevus 21 test
  • Wieacker-Wolff syndrome1 test
  • Wilms tumor 13 tests
  • Wilms tumor 21 test
  • Wilms tumor 51 test
  • Wilms tumor 61 test
  • Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome2 tests
  • Wilson-Turner syndrome1 test
  • Winchester syndrome1 test
  • Wiskott-Aldrich syndrome3 tests
  • Wolfram syndrome1 test
  • Wolfram syndrome 11 test
  • Woodhouse-Sakati syndrome1 test
  • Woolly hair, autosomal recessive 2, with or without hypotrichosis1 test
  • WT1-Related Disorders1 test
  • X-linked agammaglobulinemia4 tests
  • X-linked agammaglobulinemia with growth hormone deficiency1 test
  • X-linked Alport syndrome1 test
  • X-linked chondrodysplasia punctata 11 test
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
  • X-linked complicated corpus callosum dysgenesis1 test
  • X-linked cone-rod dystrophy 11 test
  • X-linked cone-rod dystrophy 31 test
  • X-linked congenital hemolytic anemia1 test
  • X-linked dominant chondrodysplasia, Chassaing-Lacombe type1 test
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
  • X-linked dystonia-parkinsonism2 tests
  • X-linked Emery-Dreifuss muscular dystrophy1 test
  • X-linked erythropoietic protoporphyria2 tests
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome1 test
  • X-linked intellectual disability1 test
  • X-linked intellectual disability Cabezas type1 test
  • X-linked intellectual disability, Cantagrel type1 test
  • X-linked intellectual disability, Stocco dos Santos type1 test
  • X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome1 test
  • X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
  • X-linked intellectual disability-short stature-overweight syndrome1 test
  • X-linked lissencephaly with abnormal genitalia1 test
  • X-linked lissencephaly with ambigious genitalia1 test
  • X-linked lymphoproliferative disease due to SH2D1A deficiency3 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency1 test
  • X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
  • X-linked mixed hearing loss with perilymphatic gusher1 test
  • X-linked myopathy with postural muscle atrophy1 test
  • X-linked Opitz G/BBB syndrome1 test
  • X-linked severe combined immunodeficiency1 test
  • X-linked severe congenital neutropenia1 test
  • X-linked sideroblastic anemia 11 test
  • X-linked sideroblastic anemia with ataxia1 test
  • X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea1 test
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum2 tests
  • ZAP70-Related Severe Combined Immunodeficiency1 test
  • Zimmermann-Laband syndrome 11 test
  • Zimmermann-Laband syndrome 21 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Mutation Confirmation
  • Preimplantation Genetic Diagnosis (PGD)
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Whole Genome Sequencing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.