GTR Home > Laboratories > PreventionGenetics

PreventionGenetics

GTR Lab ID: 239772, Last updated:2021-11-03

Personnel

Conditions and tests

  • 2,4-Dienoyl-CoA reductase deficiency2 tests
  • 2-aminoadipic 2-oxoadipic aciduria1 test
  • 2-hydroxyglutaric aciduria5 tests
  • 22q13.3 deletion syndrome5 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency5 tests
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency5 tests
  • 3-methylcrotonyl CoA carboxylase 2 deficiency5 tests
  • 3-Methylglutaconic aciduria type 14 tests
  • 3-Methylglutaconic aciduria type 213 tests
  • 3-Methylglutaconic aciduria type 35 tests
  • 3-methylglutaconic aciduria type 91 test
  • 3-methylglutaconic aciduria type V2 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia3 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome5 tests
  • 3-methylglutaconic aciduria, type VIII2 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency6 tests
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 46,XX sex reversal 42 tests
  • 46,xx sex reversal 52 tests
  • 46,XX sex reversal, type 16 tests
  • 46,XX testicular disorder of sex development1 test
  • 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
  • 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy2 tests
  • 46,XY sex reversal 85 tests
  • 46,XY sex reversal 96 tests
  • 46,XY sex reversal, type 12 tests
  • 46,XY sex reversal, type 23 tests
  • 46,XY sex reversal, type 35 tests
  • 46,XY sex reversal, type 54 tests
  • 46,XY sex reversal, type 66 tests
  • 46,XY sex reversal, type 76 tests
  • Aarskog syndrome3 tests
  • ABCD syndrome3 tests
  • Abdominal obesity-metabolic syndrome 33 tests
  • Abetalipoproteinaemia2 tests
  • Ablepharon macrostomia syndrome1 test
  • Abnormal activity of mitochondrial respiratory chain1 test
  • Abnormal bleeding1 test
  • Abnormality of connective tissue1 test
  • Abnormality of dental morphology1 test
  • Abnormality of metabolism/homeostasis1 test
  • Abnormality of mitochondrial metabolism1 test
  • Abnormality of the immune system1 test
  • Abnormality of the skeletal system2 tests
  • Abnormality of the skin1 test
  • Abortive cerebellar ataxia5 tests
  • ABri amyloidosis3 tests
  • Abruzzo-Erickson syndrome2 tests
  • Acatalasia1 test
  • Acheiropodia3 tests
  • Achondrogenesis type II11 tests
  • Achondrogenesis, type IA2 tests
  • Achondrogenesis, type IB5 tests
  • Achondroplasia11 tests
  • Achromatopsia1 test
  • Achromatopsia 24 tests
  • Achromatopsia 32 tests
  • Achromatopsia 44 tests
  • Achromatopsia 73 tests
  • Acne inversa, familial, 31 test
  • Acquired hemoglobin H disease4 tests
  • Acquired partial lipodystrophy2 tests
  • Acrocallosal syndrome10 tests
  • Acrocapitofemoral dysplasia3 tests
  • Acrocephalosyndactyly type I11 tests
  • Acrodysostosis1 test
  • Acrodysostosis 1 with or without hormone resistance1 test
  • Acrodysostosis 2, with or without hormone resistance6 tests
  • Acrofacial dysostosis, Cincinnati type1 test
  • Acromelic frontonasal dysostosis2 tests
  • Acromesomelic dysplasia, Demirhan type2 tests
  • Acromesomelic dysplasia, Hunter-Thompson type4 tests
  • Acromesomelic dysplasia, Maroteaux type2 tests
  • Acromicric dysplasia11 tests
  • Acth-independent macronodular adrenal hyperplasia 22 tests
  • Aculeiform cataract1 test
  • Acute encephalopathy1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3 tests
  • Acute intermittent porphyria3 tests
  • Acute lymphoid leukemia2 tests
  • Acute myeloid leukemia16 tests
  • Acyl-CoA dehydrogenase family, member 9, deficiency of7 tests
  • Adams-Oliver syndrome2 tests
  • Adams-Oliver syndrome 17 tests
  • Adams-Oliver syndrome 27 tests
  • Adams-Oliver syndrome 32 tests
  • Adams-Oliver syndrome 44 tests
  • Adams-Oliver syndrome 56 tests
  • Adams-Oliver syndrome 64 tests
  • ADan amyloidosis3 tests
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenosine kinase deficiency3 tests
  • Adenosine triphosphate, elevated, of erythrocytes1 test
  • Adenylate kinase deficiency, hemolytic anemia due to1 test
  • Adenylosuccinate lyase deficiency7 tests
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete7 tests
  • Adrenocortical carcinoma, hereditary5 tests
  • Adrenoleukodystrophy10 tests
  • Adult hypophosphatasia7 tests
  • Adult neuronal ceroid lipofuscinosis4 tests
  • Adult polyglucosan body disease2 tests
  • Adult proximal spinal muscular atrophy, autosomal dominant2 tests
  • ADULT syndrome6 tests
  • Advanced sleep phase syndrome, familial, 21 test
  • Afibrinogenemia, congenital5 tests
  • Agammaglobulinemia2 tests
  • Agammaglobulinemia 2, autosomal recessive2 tests
  • Agammaglobulinemia 3, autosomal recessive2 tests
  • Agammaglobulinemia 4, autosomal recessive2 tests
  • Agammaglobulinemia 5, autosomal dominant2 tests
  • Agammaglobulinemia 6, autosomal recessive3 tests
  • Agammaglobulinemia 7, autosomal recessive5 tests
  • Agammaglobulinemia 8, autosomal dominant2 tests
  • Age-related macular degeneration 12 tests
  • Age-related macular degeneration 111 test
  • Age-related macular degeneration 21 test
  • Age-related macular degeneration 37 tests
  • Age-related macular degeneration 43 tests
  • Age-related macular degeneration 52 tests
  • Age-related macular degeneration 62 tests
  • Age-related macular degeneration 71 test
  • Agenesis of the corpus callosum with peripheral neuropathy3 tests
  • Agnathia-otocephaly complex2 tests
  • Aicardi Goutieres syndrome 16 tests
  • Aicardi Goutieres syndrome 25 tests
  • Aicardi Goutieres syndrome 35 tests
  • Aicardi Goutieres syndrome 45 tests
  • Aicardi Goutieres syndrome 55 tests
  • Aicardi-Goutieres syndrome 64 tests
  • Aicardi-Goutieres syndrome 73 tests
  • Alacrima, achalasia, and mental retardation syndrome1 test
  • Alagille syndrome 112 tests
  • Alagille syndrome 211 tests
  • Alazami syndrome1 test
  • Alazami-Yuan syndrome1 test
  • Albinism, ocular, with sensorineural deafness6 tests
  • Albinism, oculocutaneous, type VII3 tests
  • Alexander Disease5 tests
  • ALG1-CDG3 tests
  • ALG12-congenital disorder of glycosylation5 tests
  • ALG2-CDG5 tests
  • ALG3-CDG4 tests
  • ALG8-CDG5 tests
  • ALG9 congenital disorder of glycosylation3 tests
  • Alkaptonuria1 test
  • Alkuraya-Kucinskas syndrome5 tests
  • Allan-Herndon-Dudley syndrome6 tests
  • alpha Thalassemia5 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome13 tests
  • alpha, alpha-Trehalase deficiency1 test
  • Alpha-1-antitrypsin deficiency2 tests
  • Alpha-2-plasmin inhibitor deficiency3 tests
  • Alpha-B crystallinopathy4 tests
  • Alpha-methylacyl-CoA racemase deficiency5 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 12 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 21 test
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity2 tests
  • Alport syndrome4 tests
  • Alport syndrome 1, X-linked recessive4 tests
  • Alport syndrome 3, autosomal dominant4 tests
  • Alport syndrome, autosomal recessive5 tests
  • Alstrom syndrome8 tests
  • Alternating hemiplegia of childhood 14 tests
  • Alternating hemiplegia of childhood 27 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment4 tests
  • Alveolar rhabdomyosarcoma3 tests
  • Alzheimer disease6 tests
  • Alzheimer disease, type 35 tests
  • Alzheimer disease, type 46 tests
  • Alzheimer disease, type 91 test
  • Amaurosis-hypertrichosis syndrome4 tests
  • Amelia, autosomal recessive1 test
  • Amelocerebrohypohidrotic syndrome4 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local2 tests
  • Amelogenesis imperfecta type 1G3 tests
  • Amelogenesis imperfecta, hypocalcification type2 tests
  • Amelogenesis imperfecta, hypomaturation type IIA42 tests
  • Amelogenesis imperfecta, hypomaturation type IIA51 test
  • Amelogenesis imperfecta, hypomaturation type IIA61 test
  • Amelogenesis imperfecta, hypomaturation type, IIA12 tests
  • Amelogenesis imperfecta, hypomaturation type, IIA22 tests
  • Amelogenesis imperfecta, hypomaturation type, IIA32 tests
  • Amelogenesis imperfecta, type 1E3 tests
  • Amelogenesis imperfecta, type IA2 tests
  • Amelogenesis imperfecta, type IC2 tests
  • Amelogenesis imperfecta, type IH1 test
  • Amelogenesis imperfecta, type IV2 tests
  • Aminoacylase 1 deficiency3 tests
  • Aminoglycoside-induced deafness2 tests
  • Amish lethal microcephaly2 tests
  • Amyloidogenic transthyretin amyloidosis8 tests
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia3 tests
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia4 tests
  • Amyotrophic lateral sclerosis 16, juvenile1 test
  • Amyotrophic lateral sclerosis 174 tests
  • Amyotrophic lateral sclerosis 183 tests
  • Amyotrophic lateral sclerosis 192 tests
  • Amyotrophic lateral sclerosis 204 tests
  • Amyotrophic lateral sclerosis 215 tests
  • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia4 tests
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 14 tests
  • Amyotrophic lateral sclerosis type 13 tests
  • Amyotrophic lateral sclerosis type 105 tests
  • Amyotrophic lateral sclerosis type 115 tests
  • Amyotrophic lateral sclerosis type 124 tests
  • Amyotrophic lateral sclerosis type 2, juvenile3 tests
  • Amyotrophic lateral sclerosis type 233 tests
  • Amyotrophic lateral sclerosis type 44 tests
  • Amyotrophic lateral sclerosis type 83 tests
  • Amyotrophic lateral sclerosis type 93 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 244 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 252 tests
  • Anauxetic dysplasia 12 tests
  • Andersen Tawil syndrome8 tests
  • Androgen resistance syndrome7 tests
  • Anemia without thromobocytopenia, X-linked4 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
  • Anemia, sideroblastic, 13 tests
  • Anemia, sideroblastic, 2, pyridoxine-refractory2 tests
  • Angelman syndrome9 tests
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps6 tests
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
  • Aniridia 18 tests
  • ANKRD1-related dilated cardiomyopathy1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome14 tests
  • Anterior segment dysgenesis4 tests
  • Anterior segment dysgenesis 15 tests
  • Anterior segment dysgenesis 36 tests
  • Anterior segment dysgenesis 49 tests
  • Anterior segment dysgenesis 61 test
  • Anterior segment dysgenesis 76 tests
  • Anterior segment dysgenesis 82 tests
  • Antithrombin III deficiency2 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis10 tests
  • Aortic aneurysm, familial thoracic 106 tests
  • Aortic aneurysm, familial thoracic 11, susceptibility to6 tests
  • Aortic aneurysm, familial thoracic 48 tests
  • Aortic aneurysm, familial thoracic 68 tests
  • Aortic aneurysm, familial thoracic 77 tests
  • Aortic aneurysm, familial thoracic 86 tests
  • Aortic aneurysm, familial thoracic 94 tests
  • Aortic valve disease 17 tests
  • Aortic valve disease 21 test
  • Aortic valve disease 31 test
  • Aplastic anemia4 tests
  • Apolipoprotein C2 deficiency2 tests
  • Apparent mineralocorticoid excess1 test
  • Arboleda-Tham syndrome3 tests
  • Arginase deficiency7 tests
  • Arginine:glycine amidinotransferase deficiency4 tests
  • Argininosuccinate lyase deficiency3 tests
  • Armfield X-linked mental retardation syndrome1 test
  • Aromatase deficiency2 tests
  • Aromatase excess syndrome5 tests
  • Arrhinia with choanal atresia and microphthalmia syndrome1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 107 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 117 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 127 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 55 tests
  • Arrhythmogenic right ventricular dysplasia 88 tests
  • Arrhythmogenic right ventricular dysplasia 96 tests
  • Arrhythmogenic right ventricular dysplasia, familial 19 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 131 test
  • Arrhythmogenic right ventricular dysplasia, familial, 28 tests
  • Arterial calcification, generalized, of infancy, 13 tests
  • Arterial tortuosity syndrome7 tests
  • Arteriohepatic dysplasia1 test
  • Arthrogryposis multiplex congenita 2, neurogenic type1 test
  • Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum1 test
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect1 test
  • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development1 test
  • Arthrogryposis, distal, type 1C1 test
  • Arthrogryposis, distal, type 2B17 tests
  • Arthrogryposis, distal, type 2B22 tests
  • Arthrogryposis, distal, type 2B31 test
  • Arthrogryposis, perthes disease, and upward gaze palsy1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 12 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 22 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome2 tests
  • Arts syndrome3 tests
  • Asparagine synthetase deficiency1 test
  • Aspartylglucosaminuria3 tests
  • Asperger syndrome X-linked 13 tests
  • Asperger syndrome X-linked 23 tests
  • Asphyxiating thoracic dystrophy 24 tests
  • Asphyxiating thoracic dystrophy 43 tests
  • Asphyxiating thoracic dystrophy 52 tests
  • Ataxia1 test
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus2 tests
  • Ataxia, sensory, autosomal dominant1 test
  • Ataxia, spastic, 1, autosomal dominant3 tests
  • Ataxia, spastic, 2, autosomal recessive3 tests
  • Ataxia, spastic, 3, autosomal recessive2 tests
  • Ataxia, spastic, 4, autosomal recessive3 tests
  • Ataxia-oculomotor apraxia 31 test
  • Ataxia-oculomotor apraxia 41 test
  • Ataxia-oculomotor apraxia type 15 tests
  • Ataxia-pancytopenia syndrome4 tests
  • Ataxia-telangiectasia syndrome14 tests
  • Ataxia-telangiectasia-like disorder6 tests
  • Ataxia-telangiectasia-like disorder 12 tests
  • Atelosteogenesis type 12 tests
  • Atelosteogenesis type II6 tests
  • Atelosteogenesis type III2 tests
  • Atrial fibrillation, familial, 106 tests
  • Atrial fibrillation, familial, 114 tests
  • Atrial fibrillation, familial, 127 tests
  • Atrial fibrillation, familial, 132 tests
  • Atrial fibrillation, familial, 145 tests
  • Atrial fibrillation, familial, 182 tests
  • Atrial fibrillation, familial, 36 tests
  • Atrial fibrillation, familial, 44 tests
  • Atrial fibrillation, familial, 65 tests
  • Atrial fibrillation, familial, 76 tests
  • Atrial fibrillation, familial, 96 tests
  • Atrial septal defect 27 tests
  • Atrial septal defect 35 tests
  • Atrial septal defect 41 test
  • Atrial septal defect 55 tests
  • Atrial septal defect 61 test
  • Atrial septal defect 7 with or without atrioventricular conduction defects6 tests
  • Atrial septal defect 81 test
  • Atrial septal defect 94 tests
  • Atrial standstill 21 test
  • Atrioventricular septal defect 22 tests
  • Atrioventricular septal defect 34 tests
  • Atrioventricular septal defect 47 tests
  • Atrioventricular septal defect 54 tests
  • Atrophia bulborum hereditaria8 tests
  • Atypical hemolytic-uremic syndrome 11 test
  • Atypical mycobacteriosis, familial, X-linked 22 tests
  • AU-KLINE SYNDROME1 test
  • Auditory neuropathy, autosomal dominant, 11 test
  • Auditory neuropathy-optic atrophy syndrome3 tests
  • Aural atresia, congenital1 test
  • Autism 152 tests
  • Autism 172 tests
  • Autism 52 tests
  • Autism spectrum disorder1 test
  • Autism, susceptibility to, 185 tests
  • Autism, susceptibility to, 201 test
  • Autism, susceptibility to, X-linked 13 tests
  • Autism, susceptibility to, X-linked 24 tests
  • Autism, susceptibility to, X-linked 35 tests
  • Autism, susceptibility to, X-linked 43 tests
  • Autism, susceptibility to, X-linked 51 test
  • Autism, susceptibility to, X-linked 61 test
  • Autistic disorder3 tests
  • Autoimmune disease, multisystem, infantile-onset, 15 tests
  • Autoimmune disease, multisystem, infantile-onset, 21 test
  • Autoimmune disease, syndromic multisystem2 tests
  • Autoimmune lymphoproliferative syndrome type 13 tests
  • Autoimmune lymphoproliferative syndrome type 2B2 tests
  • Autoimmune lymphoproliferative syndrome type V3 tests
  • Autoimmune lymphoproliferative syndrome, type 2A2 tests
  • Autoimmune lymphoproliferative syndrome, type III3 tests
  • Autoinflammation with episodic fever and lymphadenopathy1 test
  • Autoinflammation with infantile enterocolitis2 tests
  • Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated2 tests
  • Autoinflammation, immune dysregulation, and eosinophilia1 test
  • Autoinflammatory syndrome, familial, Behcet-like2 tests
  • Autosomal dominant distal renal tubular acidosis4 tests
  • Autosomal dominant hypophosphatemic rickets3 tests
  • Autosomal dominant macrothrombocytopenia TUBB1-related3 tests
  • Autosomal dominant medullary cystic kidney disease with hyperuricemia2 tests
  • Autosomal dominant nonsyndromic deafness 173 tests
  • Autosomal dominant nonsyndromic deafness 224 tests
  • Autosomal dominant nonsyndromic deafness 2A2 tests
  • Autosomal dominant nonsyndromic deafness 65 tests
  • Autosomal dominant optic atrophy classic form8 tests
  • Autosomal dominant osteopetrosis 15 tests
  • Autosomal dominant osteopetrosis 22 tests
  • autosomal dominant palmoplantar keratoderma and congenital alopecia2 tests
  • Autosomal dominant polycystic kidney disease7 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 17 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 25 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 37 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 46 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 56 tests
  • Autosomal dominant pseudohypoaldosteronism type 12 tests
  • Autosomal dominant torsion dystonia 44 tests
  • Autosomal recessive agammaglobulinemia 12 tests
  • Autosomal recessive axonal neuropathy with neuromyotonia3 tests
  • Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
  • Autosomal recessive congenital ichthyosis 13 tests
  • Autosomal recessive congenital ichthyosis 103 tests
  • Autosomal recessive congenital ichthyosis 23 tests
  • Autosomal recessive congenital ichthyosis 33 tests
  • Autosomal recessive congenital ichthyosis 4A5 tests
  • Autosomal recessive congenital ichthyosis 4B4 tests
  • Autosomal recessive congenital ichthyosis 53 tests
  • Autosomal recessive congenital ichthyosis 63 tests
  • Autosomal recessive congenital ichthyosis 82 tests
  • Autosomal recessive congenital ichthyosis 92 tests
  • Autosomal recessive cutis laxa type 1B8 tests
  • Autosomal recessive cutis laxa type 2B4 tests
  • Autosomal recessive cutis laxa type 2C2 tests
  • Autosomal recessive cutis laxa type 2D3 tests
  • Autosomal recessive cutis laxa type 3B3 tests
  • Autosomal recessive cutis laxa type IA7 tests
  • Autosomal recessive DOPA responsive dystonia4 tests
  • Autosomal recessive hypophosphatemic bone disease5 tests
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets3 tests
  • Autosomal recessive Kenny-Caffey syndrome3 tests
  • Autosomal recessive keratitis-ichthyosis-deafness syndrome2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G6 tests
  • Autosomal recessive multiple pterygium syndrome5 tests
  • Autosomal recessive omodysplasia1 test
  • Autosomal recessive osteopetrosis 13 tests
  • Autosomal recessive osteopetrosis 22 tests
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 72 tests
  • Autosomal recessive polycystic kidney disease6 tests
  • Autosomal recessive pseudohypoaldosteronism type 14 tests
  • Avascular necrosis of femoral head, primary, 19 tests
  • Avellino corneal dystrophy2 tests
  • Axenfeld-rieger anomaly1 test
  • Axenfeld-Rieger syndrome type 111 tests
  • Axenfeld-Rieger syndrome type 36 tests
  • Axial spondylometaphyseal dysplasia2 tests
  • Ayme-gripp syndrome5 tests
  • Azorean disease1 test
  • B-cell expansion with NFKB and T-cell anergy1 test
  • B4GALT1-CDG1 test
  • Bailey-Bloch congenital myopathy4 tests
  • Bainbridge-Ropers syndrome4 tests
  • Baller-Gerold syndrome6 tests
  • Bamforth-Lazarus syndrome3 tests
  • Band heterotopia3 tests
  • Bannayan-Riley-Ruvalcaba syndrome10 tests
  • Baraitser-Winter syndrome 18 tests
  • Baraitser-Winter Syndrome 26 tests
  • Barber-Say syndrome3 tests
  • Bardet-Biedl syndrome15 tests
  • Bardet-Biedl syndrome 15 tests
  • Bardet-Biedl syndrome 1010 tests
  • Bardet-Biedl syndrome 118 tests
  • Bardet-Biedl syndrome 1210 tests
  • Bardet-Biedl syndrome 1310 tests
  • Bardet-Biedl syndrome 146 tests
  • Bardet-Biedl syndrome 156 tests
  • Bardet-Biedl syndrome 165 tests
  • Bardet-Biedl syndrome 176 tests
  • Bardet-Biedl syndrome 186 tests
  • Bardet-Biedl syndrome 197 tests
  • Bardet-Biedl syndrome 29 tests
  • Bardet-Biedl syndrome 213 tests
  • Bardet-Biedl syndrome 225 tests
  • Bardet-Biedl syndrome 34 tests
  • Bardet-Biedl syndrome 410 tests
  • Bardet-Biedl syndrome 510 tests
  • Bardet-Biedl syndrome 63 tests
  • Bardet-Biedl syndrome 710 tests
  • Bardet-Biedl syndrome 87 tests
  • Bardet-Biedl syndrome 910 tests
  • Bartsocas-Papas syndrome7 tests
  • Bartter disease type 4a4 tests
  • Bartter syndrome, type 1, antenatal3 tests
  • Bartter syndrome, type 2, antenatal3 tests
  • Basal cell carcinoma, susceptibility to, 14 tests
  • Basal cell carcinoma, susceptibility to, 74 tests
  • Basal ganglia calcification, idiopathic, 45 tests
  • Basal ganglia calcification, idiopathic, 62 tests
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive1 test
  • Basal laminar drusen2 tests
  • Basan syndrome1 test
  • Beare-Stevenson cutis gyrata syndrome6 tests
  • Becker muscular dystrophy4 tests
  • Beckwith-Wiedemann syndrome12 tests
  • Benign familial hematuria2 tests
  • Benign familial neonatal seizures 13 tests
  • Benign familial neonatal seizures 25 tests
  • Benign hereditary chorea2 tests
  • Benign recurrent intrahepatic cholestasis type 23 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy9 tests
  • Bent bone dysplasia syndrome9 tests
  • Bernard Soulier syndrome8 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant4 tests
  • Bestrophinopathy, autosomal recessive7 tests
  • beta Thalassemia2 tests
  • Beta-D-mannosidosis2 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency4 tests
  • Beta-thalassemia, dominant inclusion body type1 test
  • Bethlem myopathy 17 tests
  • Bethlem myopathy 27 tests
  • Beukes hip dysplasia1 test
  • BH4-deficient hyperphenylalaninemia A2 tests
  • Bietti crystalline corneoretinal dystrophy2 tests
  • Bifunctional peroxisomal enzyme deficiency5 tests
  • Bilateral right-sidedness sequence1 test
  • Bile acid malabsorption, primary2 tests
  • Bile acid synthesis defect, congenital, 33 tests
  • Bile acid synthesis defect, congenital, 52 tests
  • Bile acid synthesis defect, congenital, 61 test
  • Bilirubin, serum level of, quantitative trait locus 12 tests
  • Biotin-responsive basal ganglia disease7 tests
  • Biotinidase deficiency4 tests
  • Blau syndrome3 tests
  • Bleeding disorder, platelet-type, 211 test
  • Bleeding disorder, platelet-type, 221 test
  • Blepharocheilodontic syndrome 13 tests
  • Blepharocheilodontic syndrome 21 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
  • Blepharophimosis, ptosis, and epicanthus inversus6 tests
  • BLOOD GROUP--LUTHERAN INHIBITOR2 tests
  • Bloom syndrome6 tests
  • BNAR syndrome4 tests
  • Body mass index quantitative trait locus 122 tests
  • Body mass index quantitative trait locus 181 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
  • Body mass index quantitative trait locus 41 test
  • Body mass index quantitative trait locus 91 test
  • Bohring-Opitz syndrome3 tests
  • Bone fragility with contractures, arterial rupture, and deafness2 tests
  • Bone marrow failure syndrome 15 tests
  • Bone marrow failure syndrome 21 test
  • Bone marrow failure syndrome 33 tests
  • Bone marrow failure syndrome 41 test
  • Bone marrow failure syndrome 52 tests
  • Bone mineral density quantitative trait locus 11 test
  • Bone mineral density quantitative trait locus 161 test
  • Bone mineral density quantitative trait locus 185 tests
  • Bone osteosarcoma3 tests
  • Boomerang dysplasia2 tests
  • Borjeson-Forssman-Lehmann syndrome7 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome4 tests
  • Bothnia retinal dystrophy6 tests
  • Brachydactyly type A14 tests
  • Brachydactyly type A27 tests
  • Brachydactyly type B15 tests
  • Brachydactyly type B26 tests
  • Brachydactyly type C5 tests
  • Brachydactyly type E16 tests
  • Brachydactyly type E21 test
  • Brachydactyly, type a1, c3 tests
  • Brachydactyly, type a1, d2 tests
  • Brachydactyly-arterial hypertension syndrome4 tests
  • Brachydactyly-syndactyly syndrome6 tests
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia4 tests
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis2 tests
  • Brain malformations and urinary tract defects1 test
  • Brain small vessel disease 1 with or without ocular anomalies12 tests
  • Brain small vessel disease 34 tests
  • Brain small vessel disease with hemorrhage2 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency4 tests
  • Branchiooculofacial syndrome4 tests
  • Branchiootic syndrome 16 tests
  • Branchiootic syndrome 34 tests
  • Branchiootorenal Syndrome 15 tests
  • Branchiootorenal syndrome 24 tests
  • Breast-ovarian cancer, familial 112 tests
  • Breast-ovarian cancer, familial 216 tests
  • Breast-ovarian cancer, familial 36 tests
  • Breast-ovarian cancer, familial 48 tests
  • Brittle cornea syndrome 14 tests
  • Brittle cornea syndrome 25 tests
  • Brody myopathy2 tests
  • Bronchiectasis with or without elevated sweat chloride 13 tests
  • Brown-Vialetto-Van Laere syndrome 14 tests
  • Brown-Vialetto-Van Laere syndrome 24 tests
  • Bruck syndrome 25 tests
  • Brugada syndrome2 tests
  • Brugada syndrome 17 tests
  • Brugada syndrome 25 tests
  • Brugada syndrome 35 tests
  • Brugada syndrome 46 tests
  • Brugada syndrome 53 tests
  • Brugada syndrome 65 tests
  • Brugada syndrome 75 tests
  • Brugada syndrome 84 tests
  • Brugada syndrome 95 tests
  • Brunner syndrome4 tests
  • Budd-Chiari syndrome2 tests
  • Bullous ichthyosiform erythroderma3 tests
  • Burn-McKeown syndrome1 test
  • Café-au-lait macules with pulmonary stenosis6 tests
  • Calcification of joints and arteries1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome11 tests
  • Camptomelic dysplasia12 tests
  • Camptosynpolydactyly, complex4 tests
  • Cancer of cervix4 tests
  • Candidiasis, familial, 21 test
  • Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth3 tests
  • Capillary malformation-arteriovenous malformation 13 tests
  • Capillary malformation-arteriovenous malformation 22 tests
  • CARASIL syndrome6 tests
  • Carbonic anhydrase VA deficiency, hyperammonemia due to4 tests
  • Carcinoid tumor of intestine4 tests
  • Carcinoma of cervix1 test
  • Carcinoma of colon5 tests
  • Carcinoma of pancreas9 tests
  • Cardiac arrhythmia, ankyrin B-related7 tests
  • Cardiac conduction disease with or without dilated cardiomyopathy1 test
  • Cardiac valvular dysplasia, X-linked12 tests
  • Cardiac, facial, and digital anomalies with developmental delay1 test
  • Cardiac-urogenital syndrome3 tests
  • Cardio-facio-cutaneous syndrome2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency6 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 25 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 33 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 43 tests
  • Cardiofaciocutaneous syndrome 18 tests
  • Cardiofaciocutaneous syndrome 211 tests
  • Cardiofaciocutaneous syndrome 38 tests
  • Cardiofaciocutaneous syndrome 48 tests
  • Cardiomyopathy1 test
  • Cardiomyopathy, dilated, 1NN3 tests
  • Cardiomyopathy, dilated, 1u1 test
  • Cardiomyopathy, dilated, 2b3 tests
  • Cardiomyopathy, dilated, 2c1 test
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis1 test
  • Cardiomyopathy, familial hypertrophic 272 tests
  • Cardiomyopathy, familial hypertrophic, 263 tests
  • Carney complex variant2 tests
  • Carney complex, type 15 tests
  • Carney-Stratakis syndrome6 tests
  • Carnitine acylcarnitine translocase deficiency7 tests
  • Carnitine palmitoyltransferase 1A deficiency5 tests
  • Carnitine palmitoyltransferase II deficiency, infantile6 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal5 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced6 tests
  • Carpal tunnel syndrome 11 test
  • Carpenter syndrome1 test
  • Carpenter syndrome 12 tests
  • Carpenter syndrome 22 tests
  • Cataract2 tests
  • Cataract 14 tests
  • Cataract 115 tests
  • Cataract 12, multiple types3 tests
  • Cataract 13 with adult i phenotype3 tests
  • Cataract 15, multiple types4 tests
  • Cataract 16, multiple types3 tests
  • Cataract 183 tests
  • Cataract 19, multiple types4 tests
  • Cataract 20 multiple types3 tests
  • Cataract 21, multiple types6 tests
  • Cataract 23, multiple types5 tests
  • Cataract 3, multiple types4 tests
  • Cataract 303 tests
  • Cataract 31 multiple types4 tests
  • Cataract 33, multiple types4 tests
  • Cataract 34, multiple types5 tests
  • Cataract 39, multiple types4 tests
  • Cataract 42 tests
  • Cataract 407 tests
  • Cataract 416 tests
  • Cataract 421 test
  • Cataract 431 test
  • Cataract 441 test
  • Cataract 452 tests
  • Cataract 5 multiple types3 tests
  • Cataract 6, multiple types3 tests
  • Cataract 9, multiple types4 tests
  • Cataract Hutterite type1 test
  • Cataract, autosomal recessive congenital 43 tests
  • Cataract, autosomal recessive congenital 56 tests
  • Cataract, congenital nuclear, autosomal recessive 24 tests
  • Cataract, congenital nuclear, autosomal recessive 34 tests
  • Cataract, congenital zonular, with sutural opacities4 tests
  • Cataract, juvenile, with microcornea and glucosuria3 tests
  • Cataract-intellectual disability-hypogonadism syndrome5 tests
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia2 tests
  • Catecholaminergic polymorphic ventricular tachycardia3 tests
  • Catecholaminergic polymorphic ventricular tachycardia type 14 tests
  • Catel Manzke syndrome1 test
  • Caudal duplication anomaly1 test
  • CCDC115-CDG1 test
  • CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy1 test
  • CEDNIK syndrome2 tests
  • Celiac disease 32 tests
  • Cenani-Lenz syndactyly syndrome5 tests
  • Central core myopathy6 tests
  • Central precocious puberty1 test
  • Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency4 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 13 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome6 tests
  • Cerebellar atrophy with seizures and variable developmental delay1 test
  • Cerebellar atrophy, developmental delay, and seizures3 tests
  • Cerebellar atrophy, visual impairment, and psychomotor retardation4 tests
  • Cerebellar, ocular, craniofacial, and genital syndrome2 tests
  • Cerebral amyloid angiopathy, APP-related2 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 25 tests
  • Cerebral arteriovenous malformation6 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy3 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 14 tests
  • Cerebral cavernous malformation4 tests
  • Cerebral cavernous malformations 24 tests
  • Cerebral cavernous malformations 33 tests
  • Cerebral folate transport deficiency8 tests
  • Cerebral palsy, spastic quadriplegic, 13 tests
  • Cerebral palsy, spastic quadriplegic, 22 tests
  • Cerebrooculofacioskeletal syndrome 13 tests
  • Cerebrooculofacioskeletal syndrome 23 tests
  • Cerebrooculofacioskeletal syndrome 33 tests
  • Cerebrooculofacioskeletal syndrome 44 tests
  • Cerebroretinal microangiopathy with calcifications and cysts3 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 15 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 22 tests
  • Ceroid lipofuscinosis neuronal 26 tests
  • Ceroid lipofuscinosis, neuronal, 116 tests
  • Ceroid lipofuscinosis, neuronal, 134 tests
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant5 tests
  • Char syndrome3 tests
  • Charcot-Marie-Tooth disease axonal type 2C7 tests
  • Charcot-Marie-Tooth disease axonal type 2F5 tests
  • Charcot-Marie-Tooth disease axonal type 2K4 tests
  • Charcot-Marie-Tooth disease dominant intermediate d4 tests
  • Charcot-Marie-Tooth disease type 2B5 tests
  • Charcot-Marie-Tooth disease type 2B18 tests
  • Charcot-Marie-Tooth disease type 2B23 tests
  • Charcot-Marie-Tooth disease type 2D6 tests
  • Charcot-Marie-Tooth disease type 2E5 tests
  • Charcot-Marie-Tooth disease type 2I5 tests
  • Charcot-Marie-Tooth disease type 2J5 tests
  • Charcot-Marie-Tooth disease type 2P3 tests
  • Charcot-Marie-Tooth disease, axonal type 2V1 test
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2CC2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2EE3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2O7 tests
  • Charcot-Marie-Tooth disease, axonal, type 2Q4 tests
  • Charcot-Marie-Tooth disease, axonal, type 2R4 tests
  • Charcot-Marie-Tooth disease, axonal, type 2S3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2T1 test
  • Charcot-Marie-Tooth disease, axonal, type 2u4 tests
  • Charcot-Marie-Tooth disease, axonal, type 2w1 test
  • Charcot-Marie-Tooth disease, axonal, type 2y3 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive4 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1b5 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f5 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4F6 tests
  • Charcot-Marie-Tooth disease, dominant intermediate B5 tests
  • Charcot-Marie-Tooth disease, dominant intermediate C4 tests
  • Charcot-Marie-Tooth disease, dominant intermediate E5 tests
  • Charcot-Marie-Tooth disease, dominant intermediate F5 tests
  • Charcot-Marie-Tooth disease, recessive intermediate A4 tests
  • Charcot-Marie-Tooth disease, recessive intermediate B7 tests
  • Charcot-Marie-Tooth disease, recessive intermediate c4 tests
  • Charcot-Marie-Tooth disease, recessive intermediate d6 tests
  • Charcot-Marie-Tooth disease, type 1C4 tests
  • Charcot-Marie-Tooth disease, type 21 test
  • Charcot-Marie-Tooth disease, type 2A11 test
  • Charcot-Marie-Tooth disease, type 2A2A8 tests
  • Charcot-Marie-Tooth disease, type 2L6 tests
  • Charcot-Marie-Tooth disease, type 2N4 tests
  • Charcot-Marie-Tooth disease, type 4A4 tests
  • Charcot-Marie-Tooth disease, type 4B15 tests
  • Charcot-Marie-Tooth disease, type 4B27 tests
  • Charcot-Marie-Tooth disease, type 4B37 tests
  • Charcot-Marie-Tooth disease, type 4C5 tests
  • Charcot-Marie-Tooth disease, type 4D5 tests
  • Charcot-Marie-Tooth disease, type 4H4 tests
  • Charcot-Marie-Tooth disease, type 4J9 tests
  • Charcot-Marie-Tooth disease, type 4k2 tests
  • Charcot-Marie-Tooth disease, type IA4 tests
  • Charcot-Marie-Tooth disease, X-linked dominant, 65 tests
  • Charcot-Marie-Tooth disease, X-linked recessive, type 57 tests
  • Charcot-Marie-Tooth Neuropathy X Type 14 tests
  • CHARGE association21 tests
  • Charlevoix-Saguenay spastic ataxia3 tests
  • Chilblain lupus 11 test
  • Child syndrome6 tests
  • Childhood hypophosphatasia7 tests
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1 test
  • Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1 test
  • CHIME syndrome2 tests
  • Choanal atresia and lymphedema2 tests
  • Cholestanol storage disease10 tests
  • Cholestasis, benign recurrent intrahepatic 13 tests
  • Cholestasis, intrahepatic, of pregnancy 32 tests
  • Cholestasis, intrahepatic, of pregnancy, 12 tests
  • Cholestasis, progressive familial intrahepatic 12 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Cholesterol monooxygenase (side-chain cleaving) deficiency6 tests
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type2 tests
  • Chondrodysplasia punctata1 test
  • Chondrodysplasia punctata 2 X-linked dominant7 tests
  • Chondrodysplasia with joint dislocations, GPAPP type2 tests
  • Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2 tests
  • Chops syndrome3 tests
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress5 tests
  • Choroid plexus papilloma7 tests
  • Choroidal dystrophy, central areolar 21 test
  • Choroideremia7 tests
  • Christianson syndrome8 tests
  • Chromosome 17q11.2 deletion syndrome, 1.4 MB1 test
  • Chromosome 2q32-q33 deletion syndrome3 tests
  • Chromosome Xq28 deletion syndrome1 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 23 tests
  • Chronic granulomatous disease, X-linked4 tests
  • Chronic infantile neurological, cutaneous and articular syndrome3 tests
  • Chronic pancreatitis1 test
  • Chudley-McCullough syndrome5 tests
  • Chylomicron retention disease1 test
  • Chédiak-Higashi syndrome9 tests
  • Ciliary dyskinesia, primary, 105 tests
  • Ciliary dyskinesia, primary, 114 tests
  • Ciliary dyskinesia, primary, 124 tests
  • Ciliary dyskinesia, primary, 135 tests
  • Ciliary dyskinesia, primary, 145 tests
  • Ciliary dyskinesia, primary, 155 tests
  • Ciliary dyskinesia, primary, 165 tests
  • Ciliary dyskinesia, primary, 175 tests
  • Ciliary dyskinesia, primary, 185 tests
  • Ciliary dyskinesia, primary, 195 tests
  • Ciliary dyskinesia, primary, 25 tests
  • Ciliary dyskinesia, primary, 205 tests
  • Ciliary dyskinesia, primary, 214 tests
  • Ciliary dyskinesia, primary, 225 tests
  • Ciliary dyskinesia, primary, 265 tests
  • Ciliary dyskinesia, primary, 274 tests
  • Ciliary dyskinesia, primary, 285 tests
  • Ciliary dyskinesia, primary, 294 tests
  • Ciliary dyskinesia, primary, 35 tests
  • Ciliary dyskinesia, primary, 305 tests
  • Ciliary dyskinesia, primary, 324 tests
  • Ciliary dyskinesia, primary, 335 tests
  • Ciliary dyskinesia, primary, 344 tests
  • Ciliary dyskinesia, primary, 355 tests
  • Ciliary dyskinesia, primary, 36, X-linked4 tests
  • Ciliary dyskinesia, primary, 374 tests
  • Ciliary dyskinesia, primary, 384 tests
  • Ciliary dyskinesia, primary, 393 tests
  • Ciliary dyskinesia, primary, 405 tests
  • Ciliary dyskinesia, primary, 413 tests
  • Ciliary dyskinesia, primary, 423 tests
  • Ciliary dyskinesia, primary, 434 tests
  • Ciliary dyskinesia, primary, 454 tests
  • Ciliary dyskinesia, primary, 65 tests
  • Ciliary dyskinesia, primary, 75 tests
  • Ciliary dyskinesia, primary, 95 tests
  • Ciliopathy1 test
  • Citrullinemia type I4 tests
  • Citrullinemia type II6 tests
  • Citrullinemia, adult-onset type II1 test
  • CK syndrome5 tests
  • Clark-Baraitser syndrome3 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic Hodgkin lymphoma1 test
  • Classic homocystinuria11 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome3 tests
  • Cleft palate with or without ankyloglossia, X-linked2 tests
  • Cleft palate, cardiac defects, and mental retardation5 tests
  • Cleft palate, psychomotor retardation, and distinctive facial features3 tests
  • Cleidocranial dysostosis2 tests
  • Clubfoot2 tests
  • COACH syndrome 17 tests
  • COACH syndrome 22 tests
  • Cobalamin C disease7 tests
  • Cockayne syndrome B3 tests
  • Cockayne syndrome type A5 tests
  • Cocoon syndrome1 test
  • CODAS syndrome2 tests
  • Coenzyme Q10 deficiency, primary5 tests
  • Coenzyme Q10 deficiency, primary 12 tests
  • Coenzyme Q10 deficiency, primary, 23 tests
  • Coenzyme Q10 deficiency, primary, 35 tests
  • Coenzyme Q10 deficiency, primary, 43 tests
  • Coenzyme Q10 deficiency, primary, 56 tests
  • Coenzyme Q10 deficiency, primary, 64 tests
  • Coenzyme Q10 deficiency, primary, 73 tests
  • Coenzyme Q10 deficiency, primary, 81 test
  • Coffin-Lowry syndrome2 tests
  • Coffin-Siris syndrome1 test
  • Coffin-Siris syndrome 18 tests
  • Coffin-Siris syndrome 54 tests
  • Coffin-Siris syndrome 72 tests
  • Coffin-Siris syndrome 81 test
  • COG1 congenital disorder of glycosylation1 test
  • COG7 congenital disorder of glycosylation2 tests
  • Cognitive impairment with or without cerebellar ataxia3 tests
  • Cohen syndrome10 tests
  • Cohen-Gibson syndrome1 test
  • Colchicine resistance1 test
  • Cole disease3 tests
  • Cole-Carpenter syndrome 11 test
  • Cole-Carpenter syndrome 25 tests
  • Collagen VI-related myopathy2 tests
  • Coloboma of optic disc1 test
  • Coloboma of optic nerve (disease)4 tests
  • Coloboma, ocular, autosomal dominant2 tests
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation2 tests
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness2 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome4 tests
  • Colorectal cancer10 tests
  • Colorectal cancer 12 tests
  • Colorectal cancer 108 tests
  • Colorectal cancer, susceptibility to, 125 tests
  • Combined cellular and humoral immune defects with granulomas3 tests
  • Combined deficiency of factor V and factor VIII, 14 tests
  • Combined deficiency of sialidase AND beta galactosidase7 tests
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
  • Combined immunodeficiency due to STIM1 deficiency4 tests
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined immunodeficiency, X-linked3 tests
  • Combined malonic and methylmalonic aciduria6 tests
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
  • Combined oxidative phosphorylation deficiency 15 tests
  • Combined oxidative phosphorylation deficiency 102 tests
  • Combined oxidative phosphorylation deficiency 111 test
  • Combined oxidative phosphorylation deficiency 124 tests
  • Combined oxidative phosphorylation deficiency 133 tests
  • Combined oxidative phosphorylation deficiency 146 tests
  • Combined oxidative phosphorylation deficiency 154 tests
  • Combined oxidative phosphorylation deficiency 161 test
  • Combined oxidative phosphorylation deficiency 171 test
  • Combined oxidative phosphorylation deficiency 181 test
  • Combined oxidative phosphorylation deficiency 191 test
  • Combined oxidative phosphorylation deficiency 21 test
  • Combined oxidative phosphorylation deficiency 201 test
  • Combined oxidative phosphorylation deficiency 211 test
  • Combined oxidative phosphorylation deficiency 222 tests
  • Combined oxidative phosphorylation deficiency 232 tests
  • Combined oxidative phosphorylation deficiency 243 tests
  • Combined oxidative phosphorylation deficiency 251 test
  • Combined oxidative phosphorylation deficiency 262 tests
  • Combined oxidative phosphorylation deficiency 272 tests
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 34 tests
  • Combined oxidative phosphorylation deficiency 302 tests
  • Combined oxidative phosphorylation deficiency 311 test
  • Combined oxidative phosphorylation deficiency 321 test
  • Combined oxidative phosphorylation deficiency 332 tests
  • Combined oxidative phosphorylation deficiency 342 tests
  • Combined oxidative phosphorylation deficiency 351 test
  • Combined oxidative phosphorylation deficiency 362 tests
  • Combined oxidative phosphorylation deficiency 372 tests
  • Combined oxidative phosphorylation deficiency 381 test
  • Combined oxidative phosphorylation deficiency 391 test
  • Combined oxidative phosphorylation deficiency 42 tests
  • Combined oxidative phosphorylation deficiency 401 test
  • Combined oxidative phosphorylation deficiency 412 tests
  • Combined oxidative phosphorylation deficiency 421 test
  • Combined oxidative phosphorylation deficiency 431 test
  • Combined oxidative phosphorylation deficiency 441 test
  • Combined oxidative phosphorylation deficiency 461 test
  • Combined oxidative phosphorylation deficiency 471 test
  • Combined oxidative phosphorylation deficiency 53 tests
  • Combined oxidative phosphorylation deficiency 65 tests
  • Combined oxidative phosphorylation deficiency 76 tests
  • Combined oxidative phosphorylation deficiency 83 tests
  • Combined oxidative phosphorylation deficiency 92 tests
  • Combined saposin deficiency3 tests
  • Common variable agammaglobulinemia2 tests
  • Common variable immunodeficiency 13 tests
  • Common variable immunodeficiency 104 tests
  • Common variable immunodeficiency 113 tests
  • Common variable immunodeficiency 23 tests
  • Common variable immunodeficiency 33 tests
  • Common variable immunodeficiency 43 tests
  • Common variable immunodeficiency 53 tests
  • Common variable immunodeficiency 63 tests
  • Common variable immunodeficiency 73 tests
  • Common variable immunodeficiency 8, with autoimmunity5 tests
  • Complement component 4, partial deficiency of1 test
  • Complete trisomy 21 syndrome2 tests
  • Complex V deficiency1 test
  • Cone dystrophy 33 tests
  • Cone dystrophy 44 tests
  • Cone dystrophy with supernormal rod response3 tests
  • Cone-rod dystrophy1 test
  • Cone-rod dystrophy 102 tests
  • Cone-rod dystrophy 113 tests
  • Cone-rod dystrophy 122 tests
  • Cone-rod dystrophy 136 tests
  • Cone-rod dystrophy 155 tests
  • Cone-rod dystrophy 166 tests
  • Cone-rod dystrophy 182 tests
  • Cone-rod dystrophy 192 tests
  • Cone-rod dystrophy 25 tests
  • Cone-rod dystrophy 203 tests
  • Cone-rod dystrophy 213 tests
  • Cone-rod dystrophy 34 tests
  • Cone-rod dystrophy 55 tests
  • Cone-rod dystrophy 65 tests
  • Cone-rod dystrophy 73 tests
  • Cone-rod dystrophy 93 tests
  • Cone-rod dystrophy and hearing loss2 tests
  • Cone-rod dystrophy and hearing loss 21 test
  • Cone-rod dystrophy, X-linked 14 tests
  • Congenital absence of salivary gland3 tests
  • Congenital adrenal hypoplasia, X-linked8 tests
  • Congenital amegakaryocytic thrombocytopenia5 tests
  • Congenital aneurysm of ascending aorta1 test
  • Congenital anomalies of kidney and urinary tract2 tests
  • Congenital anomalies of kidney and urinary tract 1, susceptibility to4 tests
  • Congenital anomalies of kidney and urinary tract 21 test
  • Congenital anomalies of kidney and urinary tract 31 test
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3 tests
  • Congenital anomaly of eye1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation7 tests
  • Congenital bile acid synthesis defect 12 tests
  • Congenital bile acid synthesis defect 22 tests
  • Congenital bile acid synthesis defect 45 tests
  • Congenital brain dysgenesis due to glutamine synthetase deficiency2 tests
  • Congenital cataracts, hearing loss, and neurodegeneration5 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome7 tests
  • Congenital central hypoventilation14 tests
  • Congenital contractural arachnodactyly8 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay6 tests
  • Congenital defect of folate absorption4 tests
  • Congenital disorder of deglycosylation4 tests
  • Congenital disorder of glycosylation type 1C4 tests
  • Congenital disorder of glycosylation type 1E7 tests
  • Congenital disorder of glycosylation type 1M4 tests
  • Congenital disorder of glycosylation type 1N1 test
  • Congenital disorder of glycosylation type 1O5 tests
  • Congenital disorder of glycosylation type 1P1 test
  • Congenital disorder of glycosylation type 1Q3 tests
  • Congenital disorder of glycosylation type 1t6 tests
  • Congenital disorder of glycosylation type 1u5 tests
  • Congenital disorder of glycosylation type 1w1 test
  • Congenital disorder of glycosylation type 1x1 test
  • Congenital disorder of glycosylation type 1y2 tests
  • Congenital disorder of glycosylation type 2B3 tests
  • Congenital disorder of glycosylation type 2F1 test
  • Congenital disorder of glycosylation type 2H1 test
  • Congenital disorder of glycosylation type 2i2 tests
  • Congenital disorder of glycosylation type 2J2 tests
  • Congenital disorder of glycosylation type 2k1 test
  • Congenital disorder of glycosylation type 2L2 tests
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation with defective fucosylation 11 test
  • Congenital disorder of glycosylation, type Ia6 tests
  • Congenital disorder of glycosylation, type Iaa1 test
  • Congenital disorder of glycosylation, type ICC1 test
  • Congenital disorder of glycosylation, type IIa2 tests
  • Congenital disorder of glycosylation, type IIq1 test
  • Congenital disorder of glycosylation, type IIr1 test
  • Congenital dyserythropoietic anemia type type 1B3 tests
  • Congenital dyserythropoietic anemia, type I5 tests
  • Congenital dyserythropoietic anemia, type II5 tests
  • Congenital dyserythropoietic anemia, type IV5 tests
  • Congenital erythropoietic porphyria4 tests
  • Congenital fibrosis of extraocular muscles1 test
  • Congenital generalized lipodystrophy type 13 tests
  • Congenital generalized lipodystrophy type 23 tests
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart defects1 test
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly2 tests
  • Congenital heart defects, multiple types, 21 test
  • Congenital heart defects, multiple types, 43 tests
  • Congenital heart defects, multiple types, 52 tests
  • Congenital heart defects, multiple types, 71 test
  • Congenital heart disease3 tests
  • Congenital hereditary endothelial dystrophy of the cornea2 tests
  • Congenital hydrocephalus 12 tests
  • Congenital hyperammonemia, type I5 tests
  • Congenital hypomyelinating neuropathy5 tests
  • Congenital hypomyelinating neuropathy 31 test
  • Congenital hypothyroidism1 test
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
  • Congenital hypotrichosis with juvenile macular dystrophy2 tests
  • Congenital lactase deficiency1 test
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type5 tests
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi3 tests
  • Congenital long QT syndrome5 tests
  • Congenital macrodactylia3 tests
  • Congenital microvillous atrophy3 tests
  • Congenital muscular dystrophy, LMNA-related6 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B55 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A56 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A28 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A49 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A69 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A79 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B15 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B24 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B36 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B65 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B45 tests
  • Congenital muscular hypertrophy-cerebral syndrome12 tests
  • Congenital myasthenic syndrome 123 tests
  • Congenital myasthenic syndrome 134 tests
  • Congenital myasthenic syndrome 1A2 tests
  • Congenital myasthenic syndrome 1B, fast-channel7 tests
  • Congenital myasthenic syndrome 3B3 tests
  • Congenital myasthenic syndrome 4C4 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive2 tests
  • Congenital myopathy1 test
  • Congenital myopathy with fiber type disproportion6 tests
  • Congenital myotonia, autosomal dominant form2 tests
  • Congenital myotonia, autosomal recessive form2 tests
  • Congenital ocular coloboma3 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency2 tests
  • Congenital primary aphakia8 tests
  • Congenital secretory diarrhea, chloride type2 tests
  • Congenital secretory sodium diarrhea 33 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers3 tests
  • Congenital stationary night blindness, autosomal dominant 14 tests
  • Congenital stationary night blindness, autosomal dominant 24 tests
  • Congenital stationary night blindness, autosomal dominant 32 tests
  • Congenital stationary night blindness, type 1A3 tests
  • Congenital stationary night blindness, type 1B2 tests
  • Congenital stationary night blindness, type 1C2 tests
  • Congenital stationary night blindness, type 1D4 tests
  • Congenital stationary night blindness, type 1E2 tests
  • Congenital stationary night blindness, type 1F3 tests
  • Congenital stationary night blindness, type 2A4 tests
  • Congenital stationary night blindness, type 2B6 tests
  • Congenital stromal corneal dystrophy2 tests
  • Conotruncal heart malformations10 tests
  • Contiguous abcd1/dxs1375e deletion syndrome1 test
  • CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B1 test
  • Contractures, pterygia, and variable skeletal fusions syndrome 1A4 tests
  • Cornea plana 22 tests
  • Corneal dystrophy, Fuchs endothelial 13 tests
  • Corneal dystrophy, Fuchs endothelial, 34 tests
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 62 tests
  • Corneal dystrophy, Fuchs endothelial, 82 tests
  • Corneal dystrophy, lattice type 3A2 tests
  • Corneal dystrophy, posterior polymorphous 42 tests
  • Corneal dystrophy, posterior polymorphous, 23 tests
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Cornelia de Lange syndrome 110 tests
  • Cornelia de Lange syndrome 37 tests
  • Cornelia de Lange syndrome 49 tests
  • Cornelia de Lange syndrome 58 tests
  • Corpus callosum agenesis-abnormal genitalia syndrome8 tests
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia2 tests
  • Corpus callosum, partial agenesis of, X-linked3 tests
  • Cortical dysplasia, complex, with other brain malformations 16 tests
  • Cortical dysplasia, complex, with other brain malformations 102 tests
  • Cortical dysplasia, complex, with other brain malformations 24 tests
  • Cortical dysplasia, complex, with other brain malformations 34 tests
  • Cortical dysplasia, complex, with other brain malformations 45 tests
  • Cortical dysplasia, complex, with other brain malformations 53 tests
  • Cortical dysplasia, complex, with other brain malformations 63 tests
  • Cortical dysplasia, complex, with other brain malformations 92 tests
  • Cortical malformations, occipital2 tests
  • Costello syndrome12 tests
  • Cowchock syndrome5 tests
  • Cowden syndrome5 tests
  • Cowden syndrome 118 tests
  • Cowden syndrome 31 test
  • Cowden syndrome 55 tests
  • Cowden syndrome 61 test
  • Cowden syndrome 72 tests
  • Coxopodopatellar syndrome3 tests
  • Craniodiaphyseal dysplasia, autosomal dominant2 tests
  • Cranioectodermal dysplasia 14 tests
  • Cranioectodermal dysplasia 26 tests
  • Cranioectodermal dysplasia 32 tests
  • Cranioectodermal dysplasia 42 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
  • Craniofacial-deafness-hand syndrome5 tests
  • Craniofrontonasal syndrome9 tests
  • Craniolenticulosutural dysplasia1 test
  • Craniometaphyseal dysplasia, autosomal dominant1 test
  • Craniometaphyseal dysplasia, autosomal recessive4 tests
  • Craniosynostosis 19 tests
  • Craniosynostosis 22 tests
  • Craniosynostosis 35 tests
  • Craniosynostosis 5, susceptibility to2 tests
  • Craniosynostosis and dental anomalies1 test
  • Craniosynostosis syndrome1 test
  • Creatine transporter deficiency3 tests
  • Crigler-Najjar syndrome1 test
  • Crigler-Najjar syndrome type 12 tests
  • Crigler-Najjar syndrome, type II3 tests
  • Cromer blood group system1 test
  • Crouzon syndrome10 tests
  • Crouzon syndrome with acanthosis nigricans10 tests
  • Cryohydrocytosis1 test
  • Cryptophthalmos syndrome6 tests
  • Cryptophthalmos, unilateral or bilateral, isolated5 tests
  • Cryptorchidism3 tests
  • Culler-Jones syndrome8 tests
  • Curly hair, ankyloblepharon, nail dysplasia syndrome3 tests
  • Currarino triad3 tests
  • Curry-Hall syndrome5 tests
  • Curry-Jones syndrome3 tests
  • Cushing syndrome1 test
  • Cutaneous malignant melanoma 11 test
  • Cutaneous malignant melanoma 23 tests
  • Cutaneous malignant melanoma 35 tests
  • Cutaneous malignant melanoma 85 tests
  • Cutaneous malignant melanoma 93 tests
  • Cutaneous telangiectasia and cancer syndrome, familial1 test
  • Cutis laxa with osteodystrophy8 tests
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities4 tests
  • Cutis laxa, autosomal dominant 17 tests
  • Cutis laxa, autosomal dominant 26 tests
  • Cutis laxa, autosomal dominant 34 tests
  • Cutis laxa, autosomal recessive IIIA1 test
  • Cutis laxa, X-linked6 tests
  • Cyclical neutropenia4 tests
  • CYP2C19-related poor drug metabolism1 test
  • Cystathioninuria1 test
  • Cystic fibrosis9 tests
  • Cystinuria5 tests
  • Czech dysplasia, metatarsal type12 tests
  • D-2-hydroxyglutaric aciduria 16 tests
  • D-2-hydroxyglutaric aciduria 24 tests
  • Dalmatian hypouricemia1 test
  • Danon disease9 tests
  • de Barsy syndrome4 tests
  • De Lange syndrome3 tests
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness and myopia1 test
  • Deafness dystonia syndrome6 tests
  • Deafness with labyrinthine aplasia microtia and microdontia (LAMM)2 tests
  • Deafness, autosomal dominant 13 tests
  • Deafness, autosomal dominant 103 tests
  • Deafness, autosomal dominant 111 test
  • Deafness, autosomal dominant 122 tests
  • Deafness, autosomal dominant 134 tests
  • Deafness, autosomal dominant 152 tests
  • Deafness, autosomal dominant 203 tests
  • Deafness, autosomal dominant 231 test
  • Deafness, autosomal dominant 252 tests
  • Deafness, autosomal dominant 271 test
  • Deafness, autosomal dominant 282 tests
  • Deafness, autosomal dominant 2b2 tests
  • Deafness, autosomal dominant 34, with or without inflammation1 test
  • Deafness, autosomal dominant 362 tests
  • Deafness, autosomal dominant 371 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness, autosomal dominant 3a3 tests
  • Deafness, autosomal dominant 3b2 tests
  • Deafness, autosomal dominant 43 tests
  • Deafness, autosomal dominant 402 tests
  • Deafness, autosomal dominant 411 test
  • Deafness, autosomal dominant 442 tests
  • Deafness, autosomal dominant 4b2 tests
  • Deafness, autosomal dominant 51 test
  • Deafness, autosomal dominant 501 test
  • Deafness, autosomal dominant 511 test
  • Deafness, autosomal dominant 561 test
  • Deafness, autosomal dominant 642 tests
  • Deafness, autosomal dominant 653 tests
  • Deafness, autosomal dominant 661 test
  • Deafness, autosomal dominant 671 test
  • Deafness, autosomal dominant 681 test
  • Deafness, autosomal dominant 692 tests
  • Deafness, autosomal dominant 701 test
  • Deafness, autosomal dominant 712 tests
  • Deafness, autosomal dominant 721 test
  • Deafness, autosomal dominant 731 test
  • Deafness, autosomal dominant 741 test
  • Deafness, autosomal dominant 92 tests
  • Deafness, autosomal recessive 1011 test
  • Deafness, autosomal recessive 1021 test
  • Deafness, autosomal recessive 1031 test
  • Deafness, autosomal recessive 1041 test
  • Deafness, autosomal recessive 1061 test
  • Deafness, autosomal recessive 1071 test
  • Deafness, autosomal recessive 1081 test
  • Deafness, autosomal recessive 1101 test
  • Deafness, autosomal recessive 1111 test
  • Deafness, autosomal recessive 1121 test
  • Deafness, autosomal recessive 1151 test
  • Deafness, autosomal recessive 121 test
  • Deafness, autosomal recessive 152 tests
  • Deafness, autosomal recessive 163 tests
  • Deafness, autosomal recessive 181 test
  • Deafness, autosomal recessive 18b1 test
  • Deafness, autosomal recessive 1A5 tests
  • Deafness, autosomal recessive 1b2 tests
  • Deafness, autosomal recessive 21 test
  • Deafness, autosomal recessive 212 tests
  • Deafness, autosomal recessive 222 tests
  • Deafness, autosomal recessive 232 tests
  • Deafness, autosomal recessive 242 tests
  • Deafness, autosomal recessive 252 tests
  • Deafness, autosomal recessive 282 tests
  • Deafness, autosomal recessive 292 tests
  • Deafness, autosomal recessive 32 tests
  • Deafness, autosomal recessive 302 tests
  • Deafness, autosomal recessive 311 test
  • Deafness, autosomal recessive 321 test
  • Deafness, autosomal recessive 352 tests
  • Deafness, autosomal recessive 36, with or without vestibular involvement2 tests
  • Deafness, autosomal recessive 372 tests
  • Deafness, autosomal recessive 392 tests
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct5 tests
  • Deafness, autosomal recessive 422 tests
  • Deafness, autosomal recessive 441 test
  • Deafness, autosomal recessive 482 tests
  • Deafness, autosomal recessive 492 tests
  • Deafness, autosomal recessive 533 tests
  • Deafness, autosomal recessive 571 test
  • Deafness, autosomal recessive 592 tests
  • Deafness, autosomal recessive 62 tests
  • Deafness, autosomal recessive 612 tests
  • Deafness, autosomal recessive 632 tests
  • Deafness, autosomal recessive 662 tests
  • Deafness, autosomal recessive 673 tests
  • Deafness, autosomal recessive 681 test
  • Deafness, autosomal recessive 72 tests
  • Deafness, autosomal recessive 702 tests
  • Deafness, autosomal recessive 742 tests
  • Deafness, autosomal recessive 761 test
  • Deafness, autosomal recessive 773 tests
  • Deafness, autosomal recessive 791 test
  • Deafness, autosomal recessive 82 tests
  • Deafness, autosomal recessive 841 test
  • Deafness, autosomal recessive 84b1 test
  • Deafness, autosomal recessive 863 tests
  • Deafness, autosomal recessive 881 test
  • Deafness, autosomal recessive 892 tests
  • Deafness, autosomal recessive 92 tests
  • Deafness, autosomal recessive 912 tests
  • Deafness, autosomal recessive 931 test
  • Deafness, autosomal recessive 941 test
  • Deafness, autosomal recessive 971 test
  • Deafness, autosomal recessive 981 test
  • Deafness, congenital heart defects, and posterior embryotoxon5 tests
  • Deafness, X-linked 13 tests
  • Deafness, X-linked 22 tests
  • Deafness, X-linked 42 tests
  • Deafness, X-linked 54 tests
  • Deafness, X-linked 64 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase3 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase7 tests
  • Deficiency of acetyl-CoA acetyltransferase7 tests
  • Deficiency of alpha-mannosidase2 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase3 tests
  • Deficiency of butyryl-CoA dehydrogenase5 tests
  • Deficiency of butyrylcholine esterase1 test
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase5 tests
  • Deficiency of galactokinase5 tests
  • Deficiency of glycerol kinase3 tests
  • Deficiency of guanidinoacetate methyltransferase6 tests
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase8 tests
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of malonyl-CoA decarboxylase8 tests
  • Deficiency of phosphoserine phosphatase1 test
  • Deficiency of steroid 11-beta-monooxygenase5 tests
  • Deficiency of steroid 17-alpha-monooxygenase7 tests
  • Deficiency of transaldolase3 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase9 tests
  • Dehydrated hereditary stomatocytosis 22 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema5 tests
  • Dejerine-Sottas disease6 tests
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency3 tests
  • Dent disease type 17 tests
  • Dent disease type 28 tests
  • Dental anomalies and short stature5 tests
  • Dentatorubral-pallidoluysian atrophy1 test
  • Denticles2 tests
  • Dentin dysplasia, type 11 test
  • Dentinogenesis imperfecta type 22 tests
  • Dentinogenesis imperfecta type 32 tests
  • Dermatitis, atopic, 21 test
  • Dermatofibrosarcoma protuberans1 test
  • Dermatopathia pigmentosa reticularis2 tests
  • Desanto-shinawi syndrome3 tests
  • Desbuquois dysplasia 14 tests
  • Desbuquois dysplasia 21 test
  • Desmoid disease, hereditary2 tests
  • Desmosterolosis5 tests
  • Developmental and epileptic encephalopathy 911 test
  • Developmental and epileptic encephalopathy 922 tests
  • Developmental and epileptic encephalopathy 946 tests
  • Developmental and epileptic encephalopathy, 253 tests
  • Developmental and epileptic encephalopathy, 425 tests
  • Developmental and epileptic encephalopathy, 562 tests
  • Developmental and epileptic encephalopathy, 572 tests
  • Developmental and epileptic encephalopathy, 582 tests
  • Developmental and epileptic encephalopathy, 602 tests
  • Developmental and epileptic encephalopathy, 632 tests
  • Developmental and epileptic encephalopathy, 643 tests
  • Developmental and epileptic encephalopathy, 652 tests
  • Developmental and epileptic encephalopathy, 662 tests
  • Developmental and epileptic encephalopathy, 672 tests
  • Developmental and epileptic encephalopathy, 691 test
  • Developmental and epileptic encephalopathy, 702 tests
  • Developmental and epileptic encephalopathy, 712 tests
  • Developmental and epileptic encephalopathy, 721 test
  • Developmental and epileptic encephalopathy, 731 test
  • Developmental and epileptic encephalopathy, 741 test
  • Developmental and epileptic encephalopathy, 751 test
  • Developmental and epileptic encephalopathy, 762 tests
  • Developmental and epileptic encephalopathy, 772 tests
  • Developmental and epileptic encephalopathy, 801 test
  • Developmental and epileptic encephalopathy, 811 test
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects3 tests
  • Developmental delay1 test
  • Developmental delay and seizures with or without movement abnormalities1 test
  • Developmental delay with or without dysmorphic facies and autism1 test
  • Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
  • Developmental delay, intellectual disability, obesity, and dysmorphic features1 test
  • Developmental malformations-deafness-dystonia syndrome3 tests
  • Di-George syndrome1 test
  • Diabetes mellitus type 12 tests
  • Diabetes mellitus, insulin-dependent, 102 tests
  • Diabetes mellitus, insulin-dependent, 122 tests
  • Diabetes mellitus, insulin-dependent, 21 test
  • Diabetes mellitus, insulin-dependent, 201 test
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, neonatal, with congenital hypothyroidism3 tests
  • Diabetes mellitus, noninsulin-dependent, 53 tests
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis3 tests
  • Diamond-Blackfan anemia1 test
  • Diamond-Blackfan anemia 14 tests
  • Diamond-Blackfan anemia 104 tests
  • Diamond-Blackfan anemia 112 tests
  • Diamond-Blackfan anemia 124 tests
  • Diamond-Blackfan anemia 132 tests
  • 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 34 tests
  • Diamond-Blackfan anemia 44 tests
  • Diamond-Blackfan anemia 54 tests
  • Diamond-Blackfan anemia 64 tests
  • Diamond-Blackfan anemia 74 tests
  • Diamond-Blackfan anemia 84 tests
  • Diamond-Blackfan anemia 94 tests
  • Diaphanospondylodysostosis1 test
  • Diaphragmatic hernia 33 tests
  • Diaphyseal dysplasia4 tests
  • Diarrhea 10, protein-losing enteropathy type1 test
  • Diarrhea 4, malabsorptive, congenital2 tests
  • Diarrhea 5, with tufting enteropathy, congenital5 tests
  • Diarrhea 62 tests
  • Diarrhea 71 test
  • Diarrhea 8, secretory sodium, congenital1 test
  • Diarrhea 91 test
  • Diastrophic dysplasia6 tests
  • DICER1-related pleuropulmonary blastoma cancer predisposition syndrome8 tests
  • Diencephalic-mesencephalic junction dysplasia syndrome 21 test
  • Diets-Jongmans syndrome1 test
  • Diffuse mesangial sclerosis4 tests
  • DiGeorge Syndrome5 tests
  • Digital arthropathy-brachydactyly, familial1 test
  • Dihydropteridine reductase deficiency3 tests
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency3 tests
  • Dilated cardiomyopathy 1A11 tests
  • Dilated cardiomyopathy 1AA6 tests
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C6 tests
  • Dilated cardiomyopathy 1CC6 tests
  • Dilated cardiomyopathy 1DD4 tests
  • Dilated cardiomyopathy 1E4 tests
  • Dilated cardiomyopathy 1EE4 tests
  • Dilated cardiomyopathy 1FF3 tests
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1HH3 tests
  • Dilated cardiomyopathy 1I6 tests
  • Dilated cardiomyopathy 1II3 tests
  • Dilated cardiomyopathy 1J4 tests
  • Dilated cardiomyopathy 1JJ4 tests
  • Dilated cardiomyopathy 1KK6 tests
  • Dilated cardiomyopathy 1L5 tests
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P5 tests
  • Dilated cardiomyopathy 1R5 tests
  • Dilated cardiomyopathy 1S7 tests
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W3 tests
  • Dilated cardiomyopathy 1X4 tests
  • Dilated cardiomyopathy 1Y5 tests
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A6 tests
  • Dilated cardiomyopathy 3B5 tests
  • Dilated cardiomyopathy with woolly hair and keratoderma5 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome9 tests
  • Dilution, pigmentary2 tests
  • Dimethylglycine dehydrogenase deficiency1 test
  • Disorder of fatty acid metabolism1 test
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency9 tests
  • Disorders of Intracellular Cobalamin Metabolism1 test
  • Distal arthrogryposis type 1A4 tests
  • Distal arthrogryposis type 1B3 tests
  • Distal arthrogryposis type 5D4 tests
  • Distal hereditary motor neuronopathy 2D2 tests
  • Distal hereditary motor neuronopathy type 2A3 tests
  • Distal hereditary motor neuronopathy type 2B3 tests
  • Distal hereditary motor neuronopathy type 2C2 tests
  • Distal hereditary motor neuronopathy type 57 tests
  • Distal hereditary motor neuronopathy type 5B3 tests
  • Distal hereditary motor neuronopathy type 7B6 tests
  • Distal myopathy with rimmed vacuoles1 test
  • Distal myopathy, Tateyama type1 test
  • Distal spinal muscular atrophy, congenital nonprogressive2 tests
  • Distal spinal muscular atrophy, X-linked 36 tests
  • Distichiasis-lymphedema syndrome3 tests
  • Dizygotic twins1 test
  • Dominant dystrophic epidermolysis bullosa with absence of skin4 tests
  • Donnai-Barrow syndrome5 tests
  • DOORS syndrome6 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency4 tests
  • Doughnut lesions of skull, familial1 test
  • Dowling-Degos disease 11 test
  • Doyne honeycomb retinal dystrophy4 tests
  • DPAGT1-CDG3 tests
  • Drash syndrome7 tests
  • Duane retraction syndrome 22 tests
  • Duane retraction syndrome 3 with or without deafness3 tests
  • Duane-radial ray syndrome8 tests
  • Dubin-Johnson syndrome3 tests
  • Duchenne muscular dystrophy3 tests
  • Dyggve-Melchior-Clausen syndrome1 test
  • Dysfibrinogenemia, congenital1 test
  • Dyskeratosis congenita autosomal recessive 14 tests
  • Dyskeratosis congenita, autosomal dominant 17 tests
  • Dyskeratosis congenita, autosomal dominant 62 tests
  • Dyskeratosis congenita, autosomal dominant, 28 tests
  • Dyskeratosis congenita, autosomal dominant, 35 tests
  • Dyskeratosis congenita, autosomal recessive 24 tests
  • Dyskeratosis congenita, autosomal recessive 65 tests
  • Dyskeratosis congenita, autosomal recessive, 34 tests
  • Dyskeratosis congenita, autosomal recessive, 56 tests
  • Dyskeratosis congenita, X-linked8 tests
  • Dyskinesia, seizures, and intellectual developmental disorder4 tests
  • Dysmorphic features1 test
  • Dystonia1 test
  • Dystonia 12 tests
  • Dystonia 127 tests
  • Dystonia 162 tests
  • Dystonia 242 tests
  • Dystonia 252 tests
  • Dystonia 271 test
  • Dystonia 56 tests
  • Dystonia 96 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities3 tests
  • Dystransthyretinemic euthyroidal hyperthyroxinemia1 test
  • Dystrophic epidermolysis bullosa1 test
  • Early infantile epileptic encephalopathy 104 tests
  • Early infantile epileptic encephalopathy 118 tests
  • Early infantile epileptic encephalopathy 123 tests
  • Early infantile epileptic encephalopathy 136 tests
  • Early infantile epileptic encephalopathy 143 tests
  • Early infantile epileptic encephalopathy 153 tests
  • Early infantile epileptic encephalopathy 166 tests
  • Early infantile epileptic encephalopathy 174 tests
  • Early infantile epileptic encephalopathy 184 tests
  • Early infantile epileptic encephalopathy 28 tests
  • Early infantile epileptic encephalopathy 211 test
  • Early infantile epileptic encephalopathy 342 tests
  • Early infantile epileptic encephalopathy 48 tests
  • Early infantile epileptic encephalopathy 55 tests
  • Early infantile epileptic encephalopathy 553 tests
  • Early infantile epileptic encephalopathy 592 tests
  • Early Infantile Epileptic Encephalopathy 61 test
  • Early infantile epileptic encephalopathy 611 test
  • Early infantile epileptic encephalopathy 624 tests
  • Early infantile epileptic encephalopathy 75 tests
  • Early infantile epileptic encephalopathy 85 tests
  • Early infantile epileptic encephalopathy 96 tests
  • Early myoclonic encephalopathy3 tests
  • Early-onset parkinsonism-intellectual disability syndrome6 tests
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1 test
  • EAST syndrome5 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant3 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal3 tests
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant3 tests
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive3 tests
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1 test
  • Ectodermal dysplasia 4, hair/nail type2 tests
  • Ectodermal dysplasia and immunodeficiency 13 tests
  • Ectodermal dysplasia and immunodeficiency 23 tests
  • Ectodermal dysplasia-syndactyly syndrome 12 tests
  • Ectodermal dysplasia/short stature syndrome3 tests
  • Ectopia lentis 2, isolated, autosomal recessive1 test
  • Ectopia lentis et pupillae1 test
  • Ectopia lentis, isolated, autosomal dominant10 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 39 tests
  • EDICT syndrome2 tests
  • EEM syndrome3 tests
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome classic type 22 tests
  • Ehlers-Danlos syndrome dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss3 tests
  • Ehlers-Danlos syndrome, arthrochalasia type, 110 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 22 tests
  • Ehlers-Danlos syndrome, cardiac valvular type8 tests
  • Ehlers-Danlos syndrome, classic type9 tests
  • Ehlers-Danlos syndrome, classic type I1 test
  • Ehlers-Danlos syndrome, classic-like, 23 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient5 tests
  • Ehlers-Danlos syndrome, musculocontractural type4 tests
  • Ehlers-Danlos syndrome, musculocontractural type 22 tests
  • Ehlers-Danlos syndrome, periodontal type, 12 tests
  • Ehlers-Danlos syndrome, periodontal type, 22 tests
  • Ehlers-Danlos syndrome, progeroid type, 22 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 13 tests
  • Ehlers-Danlos syndrome, type 32 tests
  • Ehlers-Danlos syndrome, type 49 tests
  • Eichsfeld type congenital muscular dystrophy3 tests
  • Eiken syndrome1 test
  • Elliptocytosis 12 tests
  • Elliptocytosis 23 tests
  • Elliptocytosis 31 test
  • Ellis-van Creveld syndrome11 tests
  • Elsahy-Waters syndrome2 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked6 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive6 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
  • Encephalitis/encephalopathy, mild, with reversible myelin vacuolization3 tests
  • Encephalocraniocutaneous lipomatosis2 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 17 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
  • Encephalopathy, acute, infection-induced, 4, susceptibility to1 test
  • Encephalopathy, familial, with neuroserpin inclusion bodies1 test
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 12 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 21 test
  • Encephalopathy, progressive, with or without lipodystrophy2 tests
  • Endocrine-cerebroosteodysplasia4 tests
  • Endometrial carcinoma6 tests
  • Endplate acetylcholinesterase deficiency3 tests
  • Enterokinase deficiency1 test
  • Epidermal nevus8 tests
  • Epidermal nevus syndrome7 tests
  • Epidermolysis bullosa junctionalis with pyloric atresia6 tests
  • Epidermolysis bullosa pruriginosa4 tests
  • Epidermolysis bullosa simplex Dowling-Meara type4 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency3 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema3 tests
  • Epidermolysis bullosa simplex with mottled pigmentation3 tests
  • Epidermolysis bullosa simplex with muscular dystrophy5 tests
  • Epidermolysis bullosa simplex with nail dystrophy5 tests
  • Epidermolysis bullosa simplex with pyloric atresia5 tests
  • Epidermolysis bullosa simplex, autosomal recessive3 tests
  • Epidermolysis bullosa simplex, autosomal recessive 23 tests
  • Epidermolysis bullosa simplex, Koebner type4 tests
  • Epidermolysis bullosa simplex, Ogna type5 tests
  • Epidermolytic palmoplantar keratoderma4 tests
  • Epilepsy3 tests
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence 56 tests
  • Epilepsy, childhood absence 61 test
  • Epilepsy, early-onset, vitamin b6-dependent1 test
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial focal, with variable foci 22 tests
  • Epilepsy, familial focal, with variable foci 32 tests
  • Epilepsy, familial focal, with variable foci 43 tests
  • Epilepsy, familial temporal lobe, 51 test
  • Epilepsy, familial temporal lobe, 74 tests
  • Epilepsy, focal, with speech disorder and with or without mental retardation3 tests
  • Epilepsy, hearing loss, and mental retardation syndrome2 tests
  • Epilepsy, idiopathic generalized 101 test
  • Epilepsy, idiopathic generalized 81 test
  • Epilepsy, idiopathic generalized 92 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 111 test
  • Epilepsy, idiopathic generalized, susceptibility to, 125 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 142 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 151 test
  • Epilepsy, idiopathic generalized, susceptibility to, 162 tests
  • Epilepsy, juvenile absence, susceptibility to, 11 test
  • Epilepsy, juvenile myoclonic 54 tests
  • Epilepsy, juvenile myoclonic, susceptibility to, 102 tests
  • Epilepsy, nocturnal frontal lobe, 52 tests
  • Epilepsy, nocturnal frontal lobe, type 12 tests
  • Epilepsy, nocturnal frontal lobe, type 32 tests
  • Epilepsy, nocturnal frontal lobe, type 42 tests
  • Epilepsy, progressive myoclonic 2A (Lafora)1 test
  • Epilepsy, progressive myoclonic 2B (Lafora)1 test
  • Epilepsy, progressive myoclonic 35 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure4 tests
  • Epilepsy, progressive myoclonic 62 tests
  • Epilepsy, progressive myoclonic 71 test
  • Epilepsy, progressive myoclonic 81 test
  • Epilepsy, progressive myoclonic, 92 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders3 tests
  • Epileptic encephalopathy, early infantile, 17 tests
  • Epileptic encephalopathy, early infantile, 193 tests
  • Epileptic encephalopathy, early infantile, 232 tests
  • Epileptic encephalopathy, early infantile, 245 tests
  • Epileptic encephalopathy, early infantile, 264 tests
  • Epileptic encephalopathy, early infantile, 277 tests
  • Epileptic encephalopathy, early infantile, 282 tests
  • Epileptic encephalopathy, early infantile, 312 tests
  • Epileptic encephalopathy, early infantile, 324 tests
  • Epileptic encephalopathy, early infantile, 332 tests
  • Epileptic encephalopathy, early infantile, 352 tests
  • Epileptic encephalopathy, early infantile, 365 tests
  • Epileptic encephalopathy, early infantile, 372 tests
  • Epileptic encephalopathy, early infantile, 381 test
  • Epileptic encephalopathy, early infantile, 401 test
  • Epileptic encephalopathy, early infantile, 412 tests
  • Epileptic encephalopathy, early infantile, 435 tests
  • Epileptic encephalopathy, early infantile, 442 tests
  • Epileptic encephalopathy, early infantile, 452 tests
  • Epileptic encephalopathy, early infantile, 463 tests
  • Epileptic encephalopathy, early infantile, 472 tests
  • Epileptic encephalopathy, early infantile, 482 tests
  • Epileptic encephalopathy, early infantile, 492 tests
  • Epileptic encephalopathy, early infantile, 503 tests
  • Epileptic encephalopathy, early infantile, 513 tests
  • Epileptic encephalopathy, early infantile, 521 test
  • Epileptic encephalopathy, early infantile, 533 tests
  • Epileptic encephalopathy, early infantile, 544 tests
  • Epileptic encephalopathy, infantile or early childhood 33 tests
  • Epiphyseal chondrodysplasia, miura type2 tests
  • Epiphyseal dysplasia, multiple, 25 tests
  • Epiphyseal dysplasia, multiple, 34 tests
  • Epiphyseal dysplasia, multiple, 74 tests
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness10 tests
  • Episodic ataxia type 14 tests
  • Episodic ataxia type 25 tests
  • Episodic ataxia type 92 tests
  • Episodic ataxia, type 52 tests
  • Episodic ataxia, type 62 tests
  • Episodic kinesigenic dyskinesia 14 tests
  • Episodic pain syndrome, familial, 22 tests
  • Episodic pain syndrome, familial, 33 tests
  • Epithelial basement membrane dystrophy2 tests
  • Epithelial recurrent erosion dystrophy1 test
  • ERCC1-Related Xeroderma Pigmentosum1 test
  • Erythrocyte lactate transporter defect1 test
  • Erythrocytosis 6, familial1 test
  • Erythrocytosis, familial, 22 tests
  • Erythroderma, ichthyosiform, congenital reticular1 test
  • Erythrokeratoderma, reticular1 test
  • Erythrokeratodermia variabilis1 test
  • Erythrokeratodermia variabilis et progressiva 11 test
  • Erythrokeratodermia variabilis et progressiva 32 tests
  • Erythropoietic protoporphyria3 tests
  • Essential hypertension4 tests
  • essential thrombocytemia2 tests
  • Essential tremor1 test
  • Ethylmalonic encephalopathy5 tests
  • Exercise intolerance, riboflavin-responsive1 test
  • Exercise-induced hyperinsulinism3 tests
  • Extraskeletal myxoid chondrosarcoma2 tests
  • Exudative vitreoretinopathy 14 tests
  • Exudative vitreoretinopathy 44 tests
  • Exudative vitreoretinopathy 53 tests
  • Exudative vitreoretinopathy 63 tests
  • Exudative vitreoretinopathy 73 tests
  • Fabry disease10 tests
  • Facial dysmorphism, immunodeficiency, livedo, and short stature1 test
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs2 tests
  • Facioscapulohumeral muscular dystrophy 23 tests
  • Factor H deficiency1 test
  • Factor v and factor viii, combined deficiency of, 23 tests
  • Factor V deficiency4 tests
  • Factor VII deficiency4 tests
  • Factor X deficiency3 tests
  • Factor XII deficiency disease2 tests
  • Factor XIII, A subunit, deficiency of4 tests
  • Factor XIII, b subunit, deficiency of4 tests
  • Failure of tooth eruption, primary1 test
  • Failure to thrive1 test
  • Familial adenomatous polyposis 16 tests
  • Familial adenomatous polyposis 33 tests
  • Familial adenomatous polyposis 42 tests
  • Familial amyloid nephropathy with urticaria AND deafness3 tests
  • Familial atrial myxoma4 tests
  • Familial atypical mycobacteriosis, type 1, X-linked3 tests
  • Familial benign pemphigus1 test
  • Familial cancer of breast22 tests
  • Familial cold autoinflammatory syndrome2 tests
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 22 tests
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial dysautonomia5 tests
  • Familial expansile osteolysis2 tests
  • Familial exudative vitreoretinopathy1 test
  • Familial exudative vitreoretinopathy, X-linked8 tests
  • Familial febrile seizures 82 tests
  • Familial focal epilepsy with variable foci2 tests
  • Familial hemiplegic migraine type 17 tests
  • Familial hemiplegic migraine type 25 tests
  • Familial hemiplegic migraine type 37 tests
  • Familial hemophagocytic lymphohistiocytosis 25 tests
  • Familial hemophagocytic lymphohistiocytosis 33 tests
  • Familial hemophagocytic lymphohistiocytosis 42 tests
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia3 tests
  • Familial hypercholesterolemia 23 tests
  • Familial hypercholesterolemia 32 tests
  • Familial hypercholesterolemia 43 tests
  • Familial hyperinsulinism1 test
  • Familial hyperkalemic periodic paralysis4 tests
  • Familial hyperprolactinemia2 tests
  • Familial hypertriglyceridemia2 tests
  • Familial hypertrophic cardiomyopathy 17 tests
  • Familial hypertrophic cardiomyopathy 105 tests
  • Familial hypertrophic cardiomyopathy 113 tests
  • Familial hypertrophic cardiomyopathy 126 tests
  • Familial hypertrophic cardiomyopathy 136 tests
  • Familial hypertrophic cardiomyopathy 147 tests
  • Familial hypertrophic cardiomyopathy 154 tests
  • Familial hypertrophic cardiomyopathy 163 tests
  • Familial hypertrophic cardiomyopathy 174 tests
  • Familial hypertrophic cardiomyopathy 187 tests
  • Familial hypertrophic cardiomyopathy 192 tests
  • Familial hypertrophic cardiomyopathy 25 tests
  • Familial hypertrophic cardiomyopathy 205 tests
  • Familial hypertrophic cardiomyopathy 33 tests
  • Familial hypertrophic cardiomyopathy 46 tests
  • Familial hypertrophic cardiomyopathy 65 tests
  • Familial hypertrophic cardiomyopathy 77 tests
  • Familial hypertrophic cardiomyopathy 85 tests
  • Familial hypertrophic cardiomyopathy 93 tests
  • Familial hypocalciuric hypercalcemia2 tests
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial idiopathic hypercalciuria2 tests
  • Familial idiopathic steroid-resistant nephrotic syndrome2 tests
  • Familial infantile myasthenia3 tests
  • Familial isolated deficiency of vitamin E1 test
  • Familial isolated hypoparathyroidism3 tests
  • Familial juvenile hyperuricemic nephropathy type 12 tests
  • Familial Mediterranean fever4 tests
  • Familial mediterranean fever, autosomal dominant4 tests
  • Familial medullary thyroid carcinoma5 tests
  • Familial multiple polyposis syndrome1 test
  • Familial partial lipodystrophy 25 tests
  • Familial partial lipodystrophy 34 tests
  • Familial partial lipodystrophy 42 tests
  • Familial partial lipodystrophy 52 tests
  • Familial partial lipodystrophy 63 tests
  • Familial platelet disorder with associated myeloid malignancy9 tests
  • Familial porphyria cutanea tarda3 tests
  • Familial progressive hyperpigmentation with or without hypopigmentation3 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial restrictive cardiomyopathy 13 tests
  • Familial restrictive cardiomyopathy 32 tests
  • Familial temporal lobe epilepsy 12 tests
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial type 5 hyperlipoproteinemia2 tests
  • Familial visceral amyloidosis, Ostertag type2 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets4 tests
  • Fanconi anemia1 test
  • Fanconi anemia, complementation group A6 tests
  • Fanconi anemia, complementation group B6 tests
  • Fanconi anemia, complementation group C8 tests
  • Fanconi anemia, complementation group D17 tests
  • Fanconi anemia, complementation group D26 tests
  • Fanconi anemia, complementation group E5 tests
  • Fanconi anemia, complementation group F5 tests
  • Fanconi anemia, complementation group G6 tests
  • Fanconi anemia, complementation group I5 tests
  • Fanconi anemia, complementation group J8 tests
  • Fanconi anemia, complementation group L5 tests
  • Fanconi anemia, complementation group M2 tests
  • Fanconi anemia, complementation group N9 tests
  • Fanconi anemia, complementation group O6 tests
  • Fanconi anemia, complementation group P5 tests
  • Fanconi anemia, complementation group Q6 tests
  • Fanconi anemia, complementation group R3 tests
  • Fanconi anemia, complementation group S2 tests
  • Fanconi anemia, complementation group T3 tests
  • Fanconi anemia, complementation group U5 tests
  • Fanconi anemia, complementation group V3 tests
  • Fanconi anemia, complementation group W4 tests
  • Fanconi renotubular syndrome 11 test
  • Fanconi renotubular syndrome 23 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
  • Fanconi renotubular syndrome 51 test
  • Fanconi-Bickel syndrome10 tests
  • Farber lipogranulomatosis4 tests
  • Fasting plasma glucose level quantitative trait locus 51 test
  • Fatal infantile hypertonic myofibrillar myopathy1 test
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 41 test
  • Feeding difficulties1 test
  • Feingold syndrome1 test
  • Feingold syndrome 16 tests
  • Feingold syndrome 25 tests
  • Fetal akinesia deformation sequence 21 test
  • Fetal akinesia deformation sequence 31 test
  • Fetal akinesia deformation sequence 41 test
  • Fetal hemoglobin quantitative trait locus 11 test
  • Fetal hemoglobin quantitative trait locus 63 tests
  • FG syndrome 114 tests
  • FG syndrome 216 tests
  • FG syndrome 46 tests
  • Fibrochondrogenesis2 tests
  • Fibrochondrogenesis 13 tests
  • Fibrochondrogenesis 25 tests
  • Fibromatosis, gingival, 52 tests
  • Fibrosis of extraocular muscles, congenital, 11 test
  • Fibrosis of extraocular muscles, congenital, 22 tests
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement2 tests
  • Fibrosis of extraocular muscles, congenital, 51 test
  • Fibrous dysplasia of jaw1 test
  • Fibular hypoplasia and complex brachydactyly4 tests
  • Filippi syndrome2 tests
  • Finnish congenital nephrotic syndrome2 tests
  • Fish-eye disease2 tests
  • Fleck corneal dystrophy2 tests
  • Fleck retina, familial benign5 tests
  • Floating-Harbor syndrome6 tests
  • Focal cortical dysplasia type II4 tests
  • Focal dermal hypoplasia6 tests
  • Focal facial dermal dysplasia 3, Setleis type1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 12 tests
  • Focal segmental glomerulosclerosis 23 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to2 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 73 tests
  • Focal segmental glomerulosclerosis 82 tests
  • Focal segmental glomerulosclerosis 92 tests
  • Fontaine progeroid syndrome2 tests
  • Foveal hypoplasia 23 tests
  • Foveal hypoplasia and presenile cataract syndrome8 tests
  • Fragile X syndrome4 tests
  • Fragile X tremor/ataxia syndrome3 tests
  • Frank-Ter Haar syndrome4 tests
  • Fraser syndrome 17 tests
  • Fraser syndrome 212 tests
  • Fraser syndrome 38 tests
  • Frasier syndrome7 tests
  • FRAXE1 test
  • Freeman-Sheldon syndrome5 tests
  • Frontometaphyseal dysplasia1 test
  • Frontometaphyseal dysplasia 110 tests
  • Frontonasal dysplasia 13 tests
  • Frontonasal dysplasia 23 tests
  • Frontonasal dysplasia 31 test
  • Frontotemporal dementia7 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 25 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 36 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 45 tests
  • Fructose-biphosphatase deficiency4 tests
  • Fucosidosis4 tests
  • Fuhrmann syndrome2 tests
  • Fumarase deficiency7 tests
  • Galactosylceramide beta-galactosidase deficiency8 tests
  • Gallbladder disease 41 test
  • Galloway-Mowat syndrome 14 tests
  • Galloway-Mowat syndrome 2, X-linked4 tests
  • Galloway-Mowat syndrome 35 tests
  • Galloway-Mowat syndrome 43 tests
  • Galloway-Mowat syndrome 53 tests
  • Galloway-Mowat syndrome 62 tests
  • Galloway-Mowat syndrome 72 tests
  • Galloway-Mowat syndrome 82 tests
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to1 test
  • GAPO syndrome1 test
  • Gastric cancer2 tests
  • Gastrointestinal stromal tumor4 tests
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis5 tests
  • Gaucher disease type 3C3 tests
  • Gaucher disease type I3 tests
  • Gaucher disease type II3 tests
  • Gaucher disease type III3 tests
  • Gaucher disease, atypical, due to saposin C deficiency1 test
  • Gaucher disease, perinatal lethal3 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 12 tests
  • Geleophysic dysplasia 13 tests
  • Geleophysic dysplasia 211 tests
  • Geleophysic dysplasia 32 tests
  • Generalized arterial calcification of infancy4 tests
  • Generalized arterial calcification of infancy 25 tests
  • Generalized dominant dystrophic epidermolysis bullosa4 tests
  • Generalized epilepsy with febrile seizures plus, type 13 tests
  • Generalized epilepsy with febrile seizures plus, type 102 tests
  • Generalized epilepsy with febrile seizures plus, type 28 tests
  • Generalized epilepsy with febrile seizures plus, type 73 tests
  • Generalized epilepsy with febrile seizures plus, type 93 tests
  • Generalized juvenile polyposis/juvenile polyposis coli7 tests
  • Generalized neonatal hypotonia1 test
  • Genitopatellar syndrome4 tests
  • Genitourinary and/or brain malformation syndrome2 tests
  • Germ cell tumor of testis2 tests
  • Geroderma osteodysplastica3 tests
  • Giant axonal neuropathy 14 tests
  • Gilbert syndrome3 tests
  • Gillespie syndrome2 tests
  • Gillessen-Kaesbach-Nishimura syndrome2 tests
  • Gingival fibromatosis 13 tests
  • Glanzmann thrombasthenia8 tests
  • Glaucoma1 test
  • Glaucoma 1, open angle, A3 tests
  • Glaucoma 1, open angle, G2 tests
  • Glaucoma 1, open angle, O1 test
  • Glaucoma 3, primary congenital, A4 tests
  • Glaucoma 3, primary congenital, d5 tests
  • Glaucoma 3, primary congenital, E1 test
  • Glaucoma, normal tension, susceptibility to5 tests
  • Glioma susceptibility 14 tests
  • Glioma susceptibility 25 tests
  • Glioma susceptibility 34 tests
  • Glioma susceptibility 94 tests
  • Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome2 tests
  • Global developmental delay, progressive ataxia, and elevated glutamine2 tests
  • Globozoospermia4 tests
  • Glomerulopathy with fibronectin deposits 21 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency2 tests
  • Glucocorticoid deficiency 52 tests
  • Glucocorticoid deficiency with achalasia1 test
  • Glucocorticoid resistance, generalized3 tests
  • Glucose-6-phosphate transport defect7 tests
  • GLUT1 deficiency syndrome 17 tests
  • GLUT1 deficiency syndrome 26 tests
  • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY1 test
  • Glutaric aciduria, type 15 tests
  • Glutathione peroxidase deficiency1 test
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to3 tests
  • Gluthathione synthetase deficiency3 tests
  • Glycine encephalopathy with normal serum glycine2 tests
  • Glycine N-methyltransferase deficiency3 tests
  • Glycogen storage disease 0, muscle2 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency4 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency2 tests
  • Glycogen storage disease IXb4 tests
  • Glycogen storage disease IXc4 tests
  • Glycogen storage disease IXd3 tests
  • Glycogen storage disease of heart, lethal congenital5 tests
  • Glycogen storage disease type III6 tests
  • Glycogen storage disease type IXa14 tests
  • Glycogen storage disease type X3 tests
  • Glycogen storage disease XI2 tests
  • Glycogen storage disease XV3 tests
  • Glycogen storage disease, type II11 tests
  • Glycogen storage disease, type IV7 tests
  • Glycogen storage disease, type V4 tests
  • Glycogen storage disease, type VI4 tests
  • Glycogen storage disease, type VII5 tests
  • Glycosylphosphatidylinositol biosynthesis defect 153 tests
  • Glycosylphosphatidylinositol biosynthesis defect 161 test
  • Glycosylphosphatidylinositol biosynthesis defect 171 test
  • Glycosylphosphatidylinositol biosynthesis defect 181 test
  • Glycosylphosphatidylinositol biosynthesis defect 211 test
  • GM1 gangliosidosis type 24 tests
  • GM1 gangliosidosis type 33 tests
  • GM3 synthase deficiency3 tests
  • Gnathodiaphyseal dysplasia1 test
  • GNE myopathy5 tests
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors6 tests
  • Goldberg-Shprintzen megacolon syndrome3 tests
  • Goldblatt syndrome1 test
  • Gonadotropin-independent familial sexual precocity5 tests
  • Gordon Holmes syndrome2 tests
  • Gordon syndrome2 tests
  • Gorlin syndrome7 tests
  • GRACILE syndrome5 tests
  • Graft-versus-host disease, susceptibility to1 test
  • Grange syndrome3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III3 tests
  • Gray platelet syndrome3 tests
  • Grebe syndrome4 tests
  • Greenberg dysplasia5 tests
  • Greig cephalopolysyndactyly syndrome10 tests
  • Griscelli syndrome type 14 tests
  • Griscelli syndrome type 26 tests
  • Griscelli syndrome type 32 tests
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions5 tests
  • Groenouw corneal dystrophy type I2 tests
  • Growth delay due to insulin-like growth factor I resistance2 tests
  • Growth retardation, developmental delay, coarse facies, and early death1 test
  • GTP cyclohydrolase I deficiency1 test
  • Guttmacher syndrome8 tests
  • H3-3B syndrome1 test
  • Haim-Munk syndrome1 test
  • Hajdu-Cheney syndrome6 tests
  • Hamartoma of hypothalamus5 tests
  • Hand-foot-genital syndrome5 tests
  • Hartsfield syndrome8 tests
  • Hashimoto thyroiditis2 tests
  • Hawkinsinuria2 tests
  • Hay-Wells syndrome of ectodermal dysplasia8 tests
  • Hb SS disease2 tests
  • Heart, malformation of1 test
  • Heart-hand syndrome, Slovenian type4 tests
  • Hecht syndrome3 tests
  • Heimler syndrome 19 tests
  • Heimler syndrome 27 tests
  • Heinz body anemia2 tests
  • Helicobacter pylori infection, susceptibility to1 test
  • Helsmoortel-Van der Aa Syndrome5 tests
  • Hemangioma, capillary infantile1 test
  • Hematologic neoplasm1 test
  • Hemochromatosis type 16 tests
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 42 tests
  • Hemochromatosis type 51 test
  • Hemoglobin H disease3 tests
  • Hemolytic anemia due to glutathione reductase deficiency1 test
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency2 tests
  • Hemophagocytic lymphohistiocytosis, familial, 53 tests
  • Hemorrhage, intracerebral, susceptibility to3 tests
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts5 tests
  • Hennekam lymphangiectasia-lymphedema syndrome2 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 14 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 23 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 31 test
  • Heparin cofactor II deficiency1 test
  • Hepatic adenomas, familial1 test
  • Hepatic methionine adenosyltransferase deficiency3 tests
  • Hepatitis b virus, susceptibility to2 tests
  • Hepatocellular carcinoma4 tests
  • Hepatomegaly1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 12 tests
  • Hereditary breast and ovarian cancer syndrome2 tests
  • Hereditary cancer-predisposing syndrome1 test
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary congenital facial paresis 31 test
  • Hereditary coproporphyria4 tests
  • Hereditary diffuse gastric cancer10 tests
  • Hereditary diffuse leukoencephalopathy with spheroids6 tests
  • Hereditary disease8 tests
  • Hereditary factor I deficiency disease2 tests
  • Hereditary factor IX deficiency disease3 tests
  • Hereditary factor VIII deficiency disease4 tests
  • Hereditary factor X deficiency disease1 test
  • Hereditary factor XI deficiency disease3 tests
  • Hereditary fructosuria5 tests
  • Hereditary hearing loss and deafness3 tests
  • Hereditary hemochromatosis1 test
  • Hereditary hemorrhagic telangiectasia2 tests
  • Hereditary hemorrhagic telangiectasia type 12 tests
  • Hereditary hyperferritinemia with congenital cataracts3 tests
  • Hereditary insensitivity to pain with anhidrosis3 tests
  • Hereditary leiomyomatosis and renal cell cancer6 tests
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I3 tests
  • Hereditary mixed polyposis syndrome 23 tests
  • Hereditary motor and sensory neuropathy with optic atrophy7 tests
  • Hereditary motor and sensory neuropathy, Okinawa type2 tests
  • Hereditary neutrophilia2 tests
  • Hereditary nonpolyposis colorectal cancer type 411 tests
  • Hereditary nonpolyposis colorectal cancer type 513 tests
  • Hereditary nonpolyposis colorectal cancer type 62 tests
  • Hereditary nonpolyposis colorectal cancer type 73 tests
  • Hereditary nonpolyposis colorectal cancer type 813 tests
  • Hereditary pancreatitis10 tests
  • Hereditary pyropoikilocytosis2 tests
  • Hereditary sensory and autonomic neuropathy type 13 tests
  • Hereditary sensory and autonomic neuropathy type IC2 tests
  • Hereditary sensory and autonomic neuropathy type IIA2 tests
  • Hereditary sensory and autonomic neuropathy type IIB2 tests
  • Hereditary sensory and autonomic neuropathy type IIC4 tests
  • Hereditary sensory neuropathy type 1D2 tests
  • Hereditary sensory neuropathy type IE3 tests
  • Hereditary sensory neuropathy type IF2 tests
  • Hereditary sideroblastic anemia1 test
  • Hereditary spastic paraplegia 1010 tests
  • Hereditary spastic paraplegia 123 tests
  • Hereditary spastic paraplegia 135 tests
  • Hereditary spastic paraplegia 155 tests
  • Hereditary spastic paraplegia 183 tests
  • Hereditary spastic paraplegia 26 tests
  • Hereditary spastic paraplegia 233 tests
  • Hereditary spastic paraplegia 263 tests
  • Hereditary spastic paraplegia 393 tests
  • Hereditary spastic paraplegia 3A4 tests
  • Hereditary spastic paraplegia 5A7 tests
  • Hereditary spastic paraplegia 64 tests
  • Hereditary spastic paraplegia 79 tests
  • Hereditary spastic paraplegia 85 tests
  • Hereditary spastic paraplegia 9A5 tests
  • Hereditary xanthinuria type 12 tests
  • Hermansky-Pudlak syndrome 18 tests
  • Hermansky-Pudlak syndrome 104 tests
  • Hermansky-Pudlak syndrome 29 tests
  • Hermansky-Pudlak syndrome 38 tests
  • Hermansky-Pudlak syndrome 48 tests
  • Hermansky-Pudlak syndrome 57 tests
  • Hermansky-Pudlak syndrome 68 tests
  • Hermansky-Pudlak syndrome 77 tests
  • Hermansky-Pudlak syndrome 87 tests
  • Hermansky-Pudlak syndrome 96 tests
  • Herpes simplex encephalitis 21 test
  • Heterotaxia1 test
  • Heterotaxy, visceral, 1, X-linked7 tests
  • Heterotaxy, visceral, 2, autosomal2 tests
  • Heterotaxy, visceral, 4, autosomal4 tests
  • Heterotaxy, visceral, 6, autosomal3 tests
  • Heterotaxy, visceral, 7, autosomal2 tests
  • Heterotaxy, visceral, 8, autosomal4 tests
  • Heterotopia, periventricular, autosomal recessive5 tests
  • Heyn-Sproul-Jackson syndrome2 tests
  • Hidrotic ectodermal dysplasia syndrome3 tests
  • Hirschsprung disease2 tests
  • Hirschsprung disease 16 tests
  • Hirschsprung disease 26 tests
  • Hirschsprung disease 33 tests
  • Hirschsprung disease 47 tests
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction3 tests
  • Histiocytic medullary reticulosis7 tests
  • Histiocytosis-lymphadenopathy plus syndrome2 tests
  • HNSHA due to aldolase A deficiency3 tests
  • Holocarboxylase synthetase deficiency4 tests
  • Holoprosencephaly 114 tests
  • HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS1 test
  • Holoprosencephaly 13, X-linked1 test
  • Holoprosencephaly 24 tests
  • Holoprosencephaly 39 tests
  • Holoprosencephaly 44 tests
  • Holoprosencephaly 54 tests
  • Holoprosencephaly 78 tests
  • Holoprosencephaly 99 tests
  • Holoprosencephaly sequence3 tests
  • Holt-Oram syndrome7 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency9 tests
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type4 tests
  • Hoyeraal-Hreidarsson syndrome2 tests
  • HSD10 disease5 tests
  • Human HOXA1 syndromes3 tests
  • Human immunodeficiency virus type 1, susceptibility to2 tests
  • Humerofemoral hypoplasia with radiotibial ray deficiency1 test
  • Huntington disease1 test
  • Hurler syndrome3 tests
  • Hurthle cell carcinoma of thyroid1 test
  • Hutchinson-Gilford syndrome5 tests
  • Hyaline fibromatosis syndrome2 tests
  • Hydranencephaly with renal aplasia-dysplasia3 tests
  • Hydrocephalus, congenital communicating, 11 test
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies4 tests
  • Hydrocephalus, congenital, 3, with brain anomalies1 test
  • Hydrolethalus syndrome 27 tests
  • Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to2 tests
  • Hydrops, lactic acidosis, and sideroblastic anemia2 tests
  • Hydroxykynureninuria1 test
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant7 tests
  • Hyper-IgM syndrome type 14 tests
  • Hyper-IgM syndrome type 24 tests
  • Hyper-IgM syndrome type 32 tests
  • Hyper-IgM syndrome type 52 tests
  • Hyperaldosteronism, familial, type II3 tests
  • Hyperaldosteronism, familial, type IV3 tests
  • Hyperalphalipoproteinemia 11 test
  • Hyperammonemia2 tests
  • Hyperammonemia, type III3 tests
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 21 test
  • Hypercarotenemia and vitamin a deficiency, autosomal dominant3 tests
  • Hypercholanemia, familial2 tests
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency2 tests
  • Hyperekplexia 11 test
  • Hyperimmunoglobulin D with periodic fever6 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive4 tests
  • Hyperinsulinemic hypoglycemia familial 52 tests
  • Hyperinsulinemic hypoglycemia, familial, 16 tests
  • Hyperinsulinemic hypoglycemia, familial, 25 tests
  • Hyperinsulinemic hypoglycemia, familial, 46 tests
  • Hyperinsulinism due to glucokinase deficiency4 tests
  • Hyperinsulinism-hyperammonemia syndrome6 tests
  • Hyperlipidemia, familial combined, LPL related2 tests
  • Hyperlipoproteinemia, type I3 tests
  • Hyperlipoproteinemia, type ID2 tests
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency4 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome3 tests
  • Hyperparathyroidism 13 tests
  • Hyperparathyroidism 23 tests
  • Hyperphenylalaninemia, BH4-deficient, D4 tests
  • Hyperphenylalaninemia, mild, non-bh4-deficient3 tests
  • Hyperphosphatasemia tarda2 tests
  • Hyperphosphatasemia with bone disease2 tests
  • Hyperphosphatasia with mental retardation syndrome 14 tests
  • Hyperphosphatasia with mental retardation syndrome 24 tests
  • Hyperphosphatasia with mental retardation syndrome 31 test
  • Hyperphosphatasia with mental retardation syndrome 41 test
  • Hyperphosphatasia with mental retardation syndrome 52 tests
  • Hyperphosphatasia with mental retardation syndrome 62 tests
  • Hyperphosphatemic familial tumoral calcinosis 12 tests
  • Hyperphosphatemic familial tumoral calcinosis 31 test
  • Hyperproinsulinemia1 test
  • Hypertelorism, Teebi type2 tests
  • Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy1 test
  • Hyperthyroidism, familial gestational2 tests
  • Hyperthyroidism, nonautoimmune2 tests
  • Hypertrichotic osteochondrodysplasia Cantu type3 tests
  • Hypertriglyceridemia, transient infantile1 test
  • Hypertrophic cardiomyopathy 255 tests
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis3 tests
  • Hyperuricemic nephropathy, familial juvenile, 21 test
  • Hyperuricemic nephropathy, familial juvenile, 41 test
  • Hypoalphalipoproteinemia, primary, 12 tests
  • Hypoalphalipoproteinemia, primary, 21 test
  • Hypobetalipoproteinemia, familial, 12 tests
  • Hypobetalipoproteinemia, familial, 21 test
  • Hypobetalipoproteinemia, normotriglyceridemic1 test
  • Hypocalcemia, autosomal dominant 15 tests
  • Hypocalcemia, autosomal dominant 22 tests
  • Hypocalciuric hypercalcemia, familial, type 11 test
  • Hypocalciuric hypercalcemia, familial, type II2 tests
  • Hypocalciuric hypercalcemia, familial, type III3 tests
  • Hypochondroplasia11 tests
  • Hypoglycemia, neonatal, simulating foetopathia diabetica5 tests
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities5 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)10 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 14 with or without anosmia8 tests
  • Hypogonadotropic hypogonadism 15 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 16 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 17 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 18 with or without anosmia8 tests
  • Hypogonadotropic hypogonadism 19 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 2 with or without anosmia14 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 21 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 22 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 24 without anosmia6 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia17 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia13 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia9 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia7 tests
  • Hypohidrotic X-linked ectodermal dysplasia3 tests
  • Hypokalemic periodic paralysis 12 tests
  • Hypokalemic periodic paralysis, type 23 tests
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 4, renal1 test
  • Hypomagnesemia 5, renal, with ocular involvement4 tests
  • Hypomagnesemia 6, renal1 test
  • Hypomagnesemia, seizures, and mental retardation 21 test
  • Hypomyelinating leukodystrophy 32 tests
  • Hypomyelinating leukodystrophy 73 tests
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism3 tests
  • Hypomyelination and Congenital Cataract3 tests
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity3 tests
  • Hypomyelination, global cerebral3 tests
  • Hypoparathyroidism - X-linked1 test
  • Hypoparathyroidism, deafness, renal disease syndrome4 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome3 tests
  • Hypophosphatemic rickets, autosomal recessive, 23 tests
  • Hypophosphatemic rickets, X-linked recessive4 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome4 tests
  • Hypoplastic left heart syndrome 13 tests
  • Hypoplastic left heart syndrome 24 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hyposegmentation of neutrophil nuclei1 test
  • Hypospadias 1, X-linked2 tests
  • Hypospadias 2, X-linked5 tests
  • Hypospadias 3, autosomal3 tests
  • Hypothalamic hypothyroidism2 tests
  • Hypothyroidism, central, and testicular enlargement2 tests
  • Hypothyroidism, congenital, nongoitrous, 12 tests
  • Hypothyroidism, congenital, nongoitrous, 22 tests
  • Hypothyroidism, congenital, nongoitrous, 53 tests
  • Hypothyroidism, congenital, nongoitrous, 62 tests
  • Hypotonia, ataxia, and delayed development syndrome2 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 14 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 25 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 33 tests
  • Hypotonia-cystinuria syndrome1 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome3 tests
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
  • Hystrix-like ichthyosis with deafness2 tests
  • I blood group system1 test
  • Ichthyosis bullosa of Siemens3 tests
  • Ichthyosis hystrix of Curth-Macklin3 tests
  • Ichthyosis prematurity syndrome2 tests
  • Ichthyosis vulgaris1 test
  • Ichthyosis, congenital, autosomal recessive 112 tests
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis4 tests
  • Idiopathic basal ganglia calcification 12 tests
  • Idiopathic basal ganglia calcification 53 tests
  • Idiopathic hypereosinophilic syndrome2 tests
  • Idiopathic nephrotic syndrome2 tests
  • Idiopathic Pulmonary Fibrosis3 tests
  • IFAP syndrome with or without BRESHECK syndrome6 tests
  • Imagawa-Matsumoto syndrome1 test
  • Imerslund-Gräsbeck syndrome2 tests
  • Immunodeficiency 111 test
  • Immunodeficiency 11b with atopic dermatitis1 test
  • Immunodeficiency 121 test
  • Immunodeficiency 133 tests
  • Immunodeficiency 146 tests
  • Immunodeficiency 171 test
  • Immunodeficiency 181 test
  • Immunodeficiency 191 test
  • Immunodeficiency 231 test
  • Immunodeficiency 26 with or without neurologic abnormalities1 test
  • Immunodeficiency 27A1 test
  • Immunodeficiency 27b1 test
  • Immunodeficiency 281 test
  • Immunodeficiency 291 test
  • Immunodeficiency 302 tests
  • Immunodeficiency 31a3 tests
  • Immunodeficiency 31C3 tests
  • Immunodeficiency 32a1 test
  • Immunodeficiency 32b1 test
  • Immunodeficiency 353 tests
  • Immunodeficiency 364 tests
  • Immunodeficiency 371 test
  • Immunodeficiency 38 with basal ganglia calcification1 test
  • Immunodeficiency 421 test
  • Immunodeficiency 475 tests
  • Immunodeficiency 521 test
  • Immunodeficiency 571 test
  • Immunodeficiency 672 tests
  • Immunodeficiency 72 with autoinflammation1 test
  • Immunodeficiency 751 test
  • Immunodeficiency 81 test
  • Immunodeficiency due to defect in cd3-zeta1 test
  • Immunodeficiency due to defect in mapbp-interacting protein1 test
  • Immunodeficiency without anhidrotic ectodermal dysplasia1 test
  • Immunodeficiency, common variable, 122 tests
  • Immunodeficiency, common variable, 133 tests
  • Immunodeficiency, common variable, 142 tests
  • Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia4 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunoglobulin A deficiency 22 tests
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia4 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 13 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 23 tests
  • Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 33 tests
  • Incontinentia pigmenti syndrome4 tests
  • Indifference to pain, congenital, autosomal recessive4 tests
  • Infantile cerebellar-retinal degeneration4 tests
  • Infantile convulsions and choreoathetosis5 tests
  • Infantile cortical hyperostosis8 tests
  • Infantile GM1 gangliosidosis6 tests
  • Infantile hypophosphatasia7 tests
  • Infantile liver failure syndrome 12 tests
  • Infantile liver failure syndrome 25 tests
  • Infantile myofibromatosis2 tests
  • Infantile myofibromatosis 11 test
  • Infantile myofibromatosis 22 tests
  • Infantile nephronophthisis6 tests
  • Infantile neuroaxonal dystrophy3 tests
  • Infantile nystagmus, X-linked2 tests
  • Infantile onset spinocerebellar ataxia8 tests
  • Infantile-onset ascending hereditary spastic paralysis3 tests
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations2 tests
  • Infertility associated with multi-tailed spermatozoa and excessive DNA3 tests
  • Infertility due to oligospermia1 test
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 131 test
  • Inflammatory bowel disease 25, autosomal recessive1 test
  • Inflammatory bowel disease 28, autosomal recessive1 test
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy1 test
  • Inflammatory skin and bowel disease, neonatal 11 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Inosine triphosphatase deficiency1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome4 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder 60 with seizures1 test
  • Intellectual developmental disorder 611 test
  • Intellectual developmental disorder 621 test
  • Intellectual developmental disorder and retinitis pigmentosa; IDDRP1 test
  • Intellectual developmental disorder with autistic features and language delay, with or without seizures1 test
  • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures2 tests
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies1 test
  • Intellectual developmental disorder with dysmorphic facies and ptosis1 test
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1 test
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies1 test
  • Intellectual developmental disorder with hypertelorism and distinctive facies1 test
  • Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies2 tests
  • Intellectual developmental disorder with persistence of fetal hemoglobin4 tests
  • Intellectual developmental disorder with seizures and language delay1 test
  • Intellectual developmental disorder with severe speech and ambulation defects2 tests
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
  • Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1 test
  • Intellectual developmental disorder, autosomal recessive 671 test
  • Intellectual developmental disorder, X-linked 1081 test
  • Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type1 test
  • Intellectual disability2 tests
  • Intellectual disability, autosomal dominant 452 tests
  • Intellectual disability, autosomal dominant 461 test
  • Intellectual disability, autosomal dominant 471 test
  • Intellectual disability, autosomal dominant 504 tests
  • Intellectual disability, autosomal dominant 513 tests
  • Intellectual disability, autosomal dominant 524 tests
  • 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 94 tests
  • Intellectual disability, autosomal recessive 651 test
  • Intellectual disability, X-linked 1062 tests
  • Intellectual disability, X-linked 1071 test
  • Intellectual disability, X-linked 212 tests
  • Intellectual disability, X-linked syndromic, Turner type4 tests
  • Intellectual disability, X-linked, syndromic, Houge type2 tests
  • Intellectual disability-cataracts-calcified pinnae-myopathy syndrome6 tests
  • Interleukin 2 receptor, alpha, deficiency of3 tests
  • Interstitial lung and liver disease1 test
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital5 tests
  • Interstitial nephritis, karyomegalic1 test
  • Intervertebral disc disorder3 tests
  • Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency1 test
  • Intestinal pseudo-obstruction1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked9 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies7 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1 test
  • Intrinsic factor deficiency1 test
  • Iodotyrosine deiodination defect2 tests
  • Iodotyrosyl coupling defect2 tests
  • Irido-corneo-trabecular dysgenesis7 tests
  • Ischemic stroke, susceptibility to1 test
  • Islet cell adenomatosis2 tests
  • Isolated lutropin deficiency4 tests
  • Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
  • Isolated sulfite oxidase deficiency4 tests
  • Isovaleryl-CoA dehydrogenase deficiency5 tests
  • Jaberi-Elahi syndrome1 test
  • Jackson-Weiss syndrome11 tests
  • Jarcho-Levin syndrome2 tests
  • Jervell and Lange-Nielsen syndrome1 test
  • Jervell and Lange-Nielsen syndrome 13 tests
  • Jervell and Lange-Nielsen syndrome 24 tests
  • Johanson-Blizzard syndrome7 tests
  • Joint laxity, short stature, and myopia1 test
  • Joubert syndrome3 tests
  • Joubert syndrome 14 tests
  • Joubert syndrome 109 tests
  • Joubert syndrome 12/15, digenic2 tests
  • Joubert syndrome 136 tests
  • Joubert syndrome 146 tests
  • Joubert syndrome 158 tests
  • Joubert syndrome 167 tests
  • Joubert syndrome 177 tests
  • Joubert syndrome 187 tests
  • Joubert syndrome 192 tests
  • Joubert syndrome 28 tests
  • Joubert syndrome 205 tests
  • Joubert syndrome 216 tests
  • Joubert syndrome 226 tests
  • Joubert syndrome 237 tests
  • Joubert syndrome 244 tests
  • Joubert syndrome 256 tests
  • Joubert syndrome 262 tests
  • Joubert syndrome 275 tests
  • Joubert syndrome 285 tests
  • Joubert syndrome 37 tests
  • Joubert syndrome 306 tests
  • Joubert syndrome 316 tests
  • Joubert syndrome 324 tests
  • Joubert syndrome 333 tests
  • Joubert syndrome 351 test
  • Joubert syndrome 48 tests
  • Joubert syndrome 510 tests
  • Joubert syndrome 67 tests
  • Joubert syndrome 710 tests
  • Joubert syndrome 87 tests
  • Joubert syndrome 912 tests
  • Juberg-Marsidi syndrome1 test
  • Junctional epidermolysis bullosa gravis of Herlitz6 tests
  • Junctional epidermolysis bullosa, non-Herlitz type9 tests
  • Juvenile myelomonocytic leukemia7 tests
  • Juvenile myoclonic epilepsy1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile nephropathic cystinosis3 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome8 tests
  • Juvenile primary lateral sclerosis1 test
  • Juvenile retinoschisis5 tests
  • Kabuki syndrome2 tests
  • Kabuki syndrome 115 tests
  • Kabuki syndrome 213 tests
  • Kahrizi syndrome3 tests
  • Kallmann syndrome 38 tests
  • Kartagener syndrome7 tests
  • KBG syndrome10 tests
  • Kearns Sayre syndrome1 test
  • Keipert syndrome1 test
  • Kennedy disease1 test
  • Kenny-Caffey syndrome type 24 tests
  • Keppen-Lubinsky syndrome2 tests
  • Keratitis fugax hereditaria1 test
  • Keratitis, hereditary3 tests
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant3 tests
  • Keratoconus 14 tests
  • Keratosis follicularis spinulosa decalvans, X-linked1 test
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma3 tests
  • Keratosis palmoplantaris striata 31 test
  • Keratosis palmoplantaris striata II2 tests
  • Keutel syndrome1 test
  • Kindler syndrome3 tests
  • Kleefstra syndrome 16 tests
  • Kleefstra syndrome 21 test
  • Klippel-Feil syndrome 1, autosomal dominant3 tests
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-Feil syndrome 3, autosomal dominant3 tests
  • Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism4 tests
  • Kniest dysplasia12 tests
  • Knobloch syndrome 17 tests
  • Knuckle pads, deafness AND leukonychia syndrome3 tests
  • Koolen-de Vries syndrome3 tests
  • Kosaki overgrowth syndrome3 tests
  • Kostmann syndrome3 tests
  • Krabbe disease, atypical, due to saposin A deficiency3 tests
  • Kufor-Rakeb syndrome6 tests
  • Kugelberg-Welander disease1 test
  • L-2-hydroxyglutaric aciduria5 tests
  • Lactic acidosis2 tests
  • Lafora disease3 tests
  • Lamb-shaffer syndrome1 test
  • Langer mesomelic dysplasia syndrome1 test
  • Large congenital melanocytic nevus6 tests
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome3 tests
  • Laryngo-onycho-cutaneous syndrome2 tests
  • Late-onset retinal degeneration4 tests
  • Lateral meningocele syndrome2 tests
  • Lathosterolosis1 test
  • Lattice corneal dystrophy Type I2 tests
  • Lattice corneal dystrophy Type III2 tests
  • Laurin-Sandrow syndrome3 tests
  • Lazy leukocyte syndrome1 test
  • LCAT deficiency2 tests
  • Leber congenital amaurosis 15 tests
  • Leber congenital amaurosis 108 tests
  • Leber congenital amaurosis 113 tests
  • Leber congenital amaurosis 125 tests
  • Leber congenital amaurosis 137 tests
  • Leber congenital amaurosis 147 tests
  • Leber congenital amaurosis 153 tests
  • Leber congenital amaurosis 163 tests
  • Leber congenital amaurosis 172 tests
  • Leber congenital amaurosis 23 tests
  • Leber congenital amaurosis 35 tests
  • Leber congenital amaurosis 47 tests
  • Leber congenital amaurosis 57 tests
  • Leber congenital amaurosis 66 tests
  • Leber congenital amaurosis 76 tests
  • Leber congenital amaurosis 83 tests
  • Leber congenital amaurosis 93 tests
  • Leber congenital amaurosis with early-onset deafness2 tests
  • Leber optic atrophy1 test
  • Left ventricular noncompaction 15 tests
  • Left ventricular noncompaction 106 tests
  • Left ventricular noncompaction 63 tests
  • Left ventricular noncompaction 73 tests
  • Left ventricular noncompaction 83 tests
  • Legg-Calve-Perthes disease11 tests
  • Legius syndrome3 tests
  • Leigh syndrome21 tests
  • Lenz microphthalmia syndrome7 tests
  • Lenz-Majewski hyperostosis syndrome5 tests
  • LEOPARD syndrome 112 tests
  • LEOPARD syndrome 26 tests
  • LEOPARD syndrome 37 tests
  • Leprechaunism syndrome2 tests
  • Leptin deficiency or dysfunction8 tests
  • Leptin receptor deficiency8 tests
  • Leri-Weill dyschondrosteosis1 test
  • Lesch-Nyhan syndrome3 tests
  • Lethal acantholytic epidermolysis bullosa3 tests
  • Lethal arthrogryposis with anterior horn cell disease3 tests
  • Lethal congenital contracture syndrome 14 tests
  • Lethal congenital contracture syndrome 101 test
  • Lethal congenital contracture syndrome 113 tests
  • Lethal congenital contracture syndrome 21 test
  • Lethal congenital contracture syndrome 52 tests
  • Lethal congenital contracture syndrome 81 test
  • Lethal congenital contracture syndrome 91 test
  • Lethal Kniest-like syndrome1 test
  • Lethal multiple pterygium syndrome8 tests
  • Lethal osteosclerotic bone dysplasia1 test
  • Lethal tight skin contracture syndrome7 tests
  • Lethargy1 test
  • Leucine-induced hypoglycemia3 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukocyte adhesion deficiency 12 tests
  • Leukocyte adhesion deficiency type II2 tests
  • Leukocyte adhesion deficiency, type III1 test
  • Leukodystrophy and acquired microcephaly with or without dystonia1 test
  • Leukodystrophy, adult-onset, autosomal dominant2 tests
  • Leukodystrophy, hypomyelinating, 101 test
  • Leukodystrophy, hypomyelinating, 112 tests
  • Leukodystrophy, hypomyelinating, 121 test
  • Leukodystrophy, hypomyelinating, 131 test
  • Leukodystrophy, hypomyelinating, 141 test
  • Leukodystrophy, hypomyelinating, 151 test
  • Leukodystrophy, hypomyelinating, 161 test
  • Leukodystrophy, hypomyelinating, 171 test
  • Leukodystrophy, hypomyelinating, 182 tests
  • Leukodystrophy, hypomyelinating, 23 tests
  • Leukodystrophy, hypomyelinating, 44 tests
  • Leukodystrophy, hypomyelinating, 63 tests
  • Leukodystrophy, hypomyelinating, 92 tests
  • Leukoencephalopathy with ataxia4 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome4 tests
  • Leukoencephalopathy with dystonia and motor neuropathy4 tests
  • Leukoencephalopathy with vanishing white matter13 tests
  • Leukoencephalopathy, cystic, without megalencephaly1 test
  • Leukoencephalopathy, progressive, with ovarian failure4 tests
  • Levy-Hollister syndrome15 tests
  • Lewy body dementia3 tests
  • Leydig cell hypoplasia, type 12 tests
  • Li-Fraumeni syndrome 119 tests
  • Li-Fraumeni syndrome 25 tests
  • Liang-Wang syndrome3 tests
  • Liberfarb syndrome1 test
  • Lichtenstein-knorr syndrome1 test
  • Liddle syndrome2 tests
  • Liebenberg syndrome3 tests
  • Lig4 syndrome4 tests
  • Limb-girdle muscular dystrophy, type 1E4 tests
  • Limb-girdle muscular dystrophy, type 1F3 tests
  • Limb-girdle muscular dystrophy, type 1G3 tests
  • Limb-girdle muscular dystrophy, type 2A3 tests
  • Limb-girdle muscular dystrophy, type 2J4 tests
  • Limb-girdle muscular dystrophy, type 2L3 tests
  • Limb-girdle muscular dystrophy, type 2Q6 tests
  • Limb-girdle muscular dystrophy, type 2S3 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C12 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C22 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C33 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C45 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C57 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C95 tests
  • Limb-mammary syndrome6 tests
  • Linear skin defects with multiple congenital anomalies 17 tests
  • Linear skin defects with multiple congenital anomalies 23 tests
  • Linear skin defects with multiple congenital anomalies 33 tests
  • Lipase deficiency, combined2 tests
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency3 tests
  • Lipodystrophy, congenital generalized, type 34 tests
  • Lipodystrophy, congenital generalized, type 45 tests
  • Lipoyltransferase 1 deficiency3 tests
  • Lissencephaly 102 tests
  • Lissencephaly 2, X-linked12 tests
  • Lissencephaly 45 tests
  • Lissencephaly 53 tests
  • Lissencephaly 6, with microcephaly4 tests
  • Lissencephaly 7 with cerebellar hypoplasia2 tests
  • Lissencephaly 83 tests
  • Lissencephaly 9 with complex brainstem malformation4 tests
  • Lissencephaly due to LIS1 mutation5 tests
  • Lissencephaly due to TUBA1A mutation5 tests
  • Lissencephaly, X-linked6 tests
  • Localized epidermolysis bullosa simplex6 tests
  • Loeys-Dietz syndrome 18 tests
  • Loeys-Dietz syndrome 213 tests
  • Loeys-Dietz syndrome 310 tests
  • Loeys-Dietz syndrome 410 tests
  • Loeys-Dietz syndrome 510 tests
  • Long QT syndrome1 test
  • Long QT syndrome 12 tests
  • Long QT syndrome 105 tests
  • Long QT syndrome 115 tests
  • Long QT syndrome 125 tests
  • Long QT syndrome 134 tests
  • Long QT syndrome 145 tests
  • Long QT syndrome 153 tests
  • Long QT syndrome 162 tests
  • Long QT syndrome 26 tests
  • Long QT syndrome 37 tests
  • Long QT syndrome 56 tests
  • Long QT syndrome 65 tests
  • Long QT syndrome 82 tests
  • Long QT syndrome 97 tests
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency10 tests
  • Low phospholipid associated cholelithiasis2 tests
  • Lowe syndrome8 tests
  • Lucey-Driscoll syndrome2 tests
  • Lung cancer4 tests
  • Lung carcinoma5 tests
  • Luscan-lumish syndrome3 tests
  • Lymphangiomyomatosis2 tests
  • Lymphatic malformation 32 tests
  • Lymphedema, hereditary, ID1 test
  • Lymphedema, hereditary, III5 tests
  • Lymphedema, primary, with myelodysplasia5 tests
  • Lymphoma1 test
  • Lymphoma, Non-Hodgkin, Familial4 tests
  • Lymphoproliferative syndrome 13 tests
  • Lymphoproliferative syndrome 1, X-linked7 tests
  • Lymphoproliferative syndrome 21 test
  • Lymphoproliferative syndrome 2, X-linked5 tests
  • Lynch syndrome I14 tests
  • Lynch syndrome II13 tests
  • Lysinuric protein intolerance4 tests
  • Lysosomal acid lipase deficiency6 tests
  • Macrocephaly with multiple epiphyseal dysplasia and distinctive facies7 tests
  • Macrocephaly, acquired, with impaired intellectual development1 test
  • Macrocephaly, alopecia, cutis laxa, and scoliosis5 tests
  • Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
  • Macrocephaly/autism syndrome9 tests
  • Macrocephaly/megalencephaly syndrome, autosomal recessive1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss7 tests
  • Macular corneal dystrophy3 tests
  • Macular degeneration, early-onset2 tests
  • Macular degeneration, X-linked atrophic4 tests
  • Macular dystrophy with central cone involvement3 tests
  • Macular dystrophy, patterned, 22 tests
  • Macular dystrophy, vitelliform, 43 tests
  • Macular dystrophy, vitelliform, 51 test
  • Macular dystrophy, vitelliform, adult-onset2 tests
  • Majeed syndrome3 tests
  • Maleylacetoacetate isomerase deficiency1 test
  • Malignant hyperthermia1 test
  • Malignant hyperthermia, susceptibility to, 15 tests
  • Malignant hyperthermia, susceptibility to, 53 tests
  • Malignant tumor of breast1 test
  • Malignant tumor of esophagus3 tests
  • Malignant tumor of prostate14 tests
  • Malignant tumor of testis4 tests
  • Malignant tumor of urinary bladder9 tests
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome3 tests
  • Mandibuloacral dysplasia with type A lipodystrophy4 tests
  • Mandibuloacral dysplasia with type B lipodystrophy4 tests
  • Mandibulofacial dysostosis-microcephaly syndrome9 tests
  • Mannose-binding protein deficiency1 test
  • Maple syrup urine disease9 tests
  • Maple syrup urine disease, type 36 tests
  • Marden-Walker syndrome1 test
  • Marfan lipodystrophy syndrome12 tests
  • Marfan syndrome19 tests
  • Marinesco-Sjögren syndrome6 tests
  • Marshall syndrome10 tests
  • Marshall-Smith syndrome3 tests
  • MASA syndrome6 tests
  • MASP2 deficiency1 test
  • MASS syndrome12 tests
  • Mast syndrome3 tests
  • Maternal riboflavin deficiency1 test
  • Matthew-Wood syndrome3 tests
  • Maturity onset diabetes mellitus in young1 test
  • Maturity-onset diabetes of the young type 45 tests
  • Maturity-onset diabetes of the young type 64 tests
  • Maturity-onset diabetes of the young type 74 tests
  • Maturity-onset diabetes of the young type 94 tests
  • Maturity-onset diabetes of the young, type 16 tests
  • Maturity-onset diabetes of the young, type 104 tests
  • Maturity-onset diabetes of the young, type 114 tests
  • Maturity-onset diabetes of the young, type 132 tests
  • Maturity-onset diabetes of the young, type 144 tests
  • Maturity-onset diabetes of the young, type 24 tests
  • Maturity-onset diabetes of the young, type 35 tests
  • McKusick-Kaufman syndrome7 tests
  • McLeod neuroacanthocytosis syndrome1 test
  • Meacham syndrome5 tests
  • Meckel syndrome 125 tests
  • Meckel syndrome 135 tests
  • Meckel syndrome type 18 tests
  • Meckel syndrome type 610 tests
  • Meckel syndrome type 76 tests
  • Meckel syndrome type 86 tests
  • Meckel syndrome, type 106 tests
  • Meckel syndrome, type 113 tests
  • Meckel syndrome, type 27 tests
  • Meckel syndrome, type 36 tests
  • Meckel syndrome, type 48 tests
  • Meckel syndrome, type 59 tests
  • Meckel syndrome, type 96 tests
  • Meconium ileus1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency6 tests
  • Medullary cystic kidney disease 12 tests
  • Medulloblastoma8 tests
  • Meesmann corneal dystrophy3 tests
  • Meester-loeys syndrome3 tests
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1 test
  • Megaconial type congenital muscular dystrophy4 tests
  • Megacystis, microcolon, hypoperistalsis syndrome1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 13 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a5 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation4 tests
  • Megalencephaly-capillary malformation-polymicrogyria syndrome6 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 17 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 28 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 36 tests
  • Megaloblastic anemia due to dihydrofolate reductase deficiency1 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness6 tests
  • Megalocornea2 tests
  • MEHMO syndrome2 tests
  • Meier-Gorlin syndrome2 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 52 tests
  • Melanoma and neural system tumor syndrome2 tests
  • Melanoma, cutaneous malignant, susceptibility to, 104 tests
  • Melanoma-pancreatic cancer syndrome3 tests
  • Melnick-Needles syndrome11 tests
  • MEND syndrome6 tests
  • Meningioma, familial13 tests
  • Menke-Hennekam syndrome 15 tests
  • Menke-Hennekam syndrome 25 tests
  • Menkes kinky-hair syndrome6 tests
  • Mental retardation 3, X-linked5 tests
  • Mental retardation 30, X-linked2 tests
  • Mental retardation 49, X-linked5 tests
  • Mental retardation 58, X-linked1 test
  • Mental retardation 63, X-linked2 tests
  • Mental retardation 9, X-linked1 test
  • Mental retardation and distinctive facial features with or without cardiac defects5 tests
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia8 tests
  • Mental retardation with language impairment and with or without autistic features7 tests
  • Mental retardation with panhypopituitarism, X-linked3 tests
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance9 tests
  • Mental retardation, autosomal dominant 16 tests
  • Mental retardation, autosomal dominant 136 tests
  • Mental retardation, autosomal dominant 145 tests
  • Mental retardation, autosomal dominant 154 tests
  • Mental retardation, autosomal dominant 166 tests
  • Mental retardation, autosomal dominant 181 test
  • Mental retardation, autosomal dominant 192 tests
  • Mental retardation, autosomal dominant 213 tests
  • Mental retardation, autosomal dominant 222 tests
  • Mental retardation, autosomal dominant 236 tests
  • Mental retardation, autosomal dominant 244 tests
  • Mental retardation, autosomal dominant 264 tests
  • Mental retardation, autosomal dominant 274 tests
  • Mental retardation, autosomal dominant 295 tests
  • Mental retardation, autosomal dominant 303 tests
  • Mental retardation, autosomal dominant 314 tests
  • Mental retardation, autosomal dominant 353 tests
  • Mental retardation, autosomal dominant 382 tests
  • Mental retardation, autosomal dominant 394 tests
  • Mental retardation, autosomal dominant 403 tests
  • Mental retardation, autosomal dominant 413 tests
  • Mental retardation, autosomal dominant 421 test
  • Mental retardation, autosomal dominant 432 tests
  • Mental retardation, autosomal dominant 442 tests
  • Mental retardation, autosomal dominant 54 tests
  • Mental retardation, autosomal dominant 66 tests
  • Mental retardation, autosomal dominant 75 tests
  • Mental retardation, autosomal recessive 122 tests
  • Mental retardation, autosomal recessive 132 tests
  • Mental retardation, autosomal recessive 141 test
  • Mental retardation, autosomal recessive 152 tests
  • Mental retardation, autosomal recessive 21 test
  • Mental retardation, autosomal recessive 32 tests
  • Mental retardation, autosomal recessive 342 tests
  • Mental retardation, autosomal recessive 361 test
  • Mental retardation, autosomal recessive 371 test
  • Mental retardation, autosomal recessive 412 tests
  • Mental retardation, autosomal recessive 421 test
  • Mental retardation, autosomal recessive 461 test
  • Mental retardation, autosomal recessive 471 test
  • Mental retardation, autosomal recessive 533 tests
  • Mental retardation, autosomal recessive 551 test
  • Mental retardation, autosomal recessive 572 tests
  • Mental retardation, autosomal recessive 61 test
  • Mental retardation, autosomal recessive 72 tests
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma3 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations6 tests
  • Mental retardation, syndromic 14, X-linked5 tests
  • Mental retardation, syndromic, Claes-Jensen type, X-linked6 tests
  • Mental retardation, with or without seizures, ARX-related, X-linked7 tests
  • Mental retardation, X-linked 16 tests
  • Mental retardation, X-linked 1002 tests
  • Mental retardation, X-linked 1011 test
  • Mental retardation, X-linked 1027 tests
  • Mental retardation, X-linked 1031 test
  • Mental retardation, X-linked 1041 test
  • Mental retardation, X-linked 1051 test
  • Mental retardation, X-linked 121 test
  • Mental retardation, X-linked 192 tests
  • Mental retardation, X-linked 612 tests
  • Mental retardation, X-linked 725 tests
  • Mental retardation, X-linked 932 tests
  • Mental retardation, X-linked 961 test
  • Mental retardation, X-linked 984 tests
  • Mental retardation, X-linked 993 tests
  • Mental retardation, X-linked 99, syndromic, female-restricted3 tests
  • Mental retardation, X-linked, syndromic 135 tests
  • Mental retardation, X-linked, syndromic 333 tests
  • Mental retardation, X-linked, syndromic 342 tests
  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, 352 tests
  • Mental retardation, X-linked, syndromic, Bain type2 tests
  • Mental retardation, X-linked, syndromic, Hedera type3 tests
  • Mental retardation, X-linked, syndromic, Raymond type1 test
  • Mental retardation, X-linked, syndromic, wu type2 tests
  • Meretoja syndrome3 tests
  • Merosin deficient congenital muscular dystrophy8 tests
  • MERRF syndrome1 test
  • Mesoaxial synostotic syndactyly with phalangeal reduction4 tests
  • Mesothelioma, malignant5 tests
  • Metabolic acidosis1 test
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression2 tests
  • Metabolic disease1 test
  • Metabolic ketoacidosis1 test
  • Metabolic myopathy1 test
  • Metabolic syndrome X1 test
  • Metacarpal 4-5 fusion2 tests
  • Metachondromatosis7 tests
  • Metachromatic leukodystrophy5 tests
  • Metaphyseal chondrodysplasia, Jansen type2 tests
  • Metaphyseal chondrodysplasia, McKusick type2 tests
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly1 test
  • Metaphyseal dysplasia without hypotrichosis2 tests
  • Metatrophic dysplasia1 test
  • Methemoglobinemia type 43 tests
  • Methemoglobinemia, alpha type1 test
  • Methemoglobinemia, beta-globin type1 test
  • Methylcobalamin deficiency type cblG4 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency4 tests
  • Methylmalonic acidemia with homocystinuria cblD7 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ4 tests
  • Methylmalonic aciduria and homocystinuria type cblF4 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency7 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect5 tests
  • Methylmalonyl-CoA epimerase deficiency4 tests
  • Mevalonic aciduria4 tests
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant7 tests
  • Microcephalic osteodysplastic primordial dwarfism type II6 tests
  • Microcephaly 16, primary, autosomal recessive1 test
  • Microcephaly 17, primary, autosomal recessive2 tests
  • Microcephaly 18, primary, autosomal dominant2 tests
  • Microcephaly 20, primary, autosomal recessive3 tests
  • Microcephaly 22, primary, autosomal recessive2 tests
  • Microcephaly and chorioretinopathy, autosomal recessive, 13 tests
  • Microcephaly and chorioretinopathy, autosomal recessive, 22 tests
  • Microcephaly and chorioretinopathy, autosomal recessive, 32 tests
  • Microcephaly with mental retardation and digital anomalies2 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation5 tests
  • Microcephaly, congenital cataract, and psoriasiform dermatitis2 tests
  • Microcephaly, epilepsy, and diabetes syndrome3 tests
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome2 tests
  • Microcephaly, growth deficiency, seizures, and brain malformations2 tests
  • Microcephaly, normal intelligence and immunodeficiency11 tests
  • Microcephaly, postnatal progressive, with seizures and brain atrophy2 tests
  • Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1 test
  • Microcephaly, short stature, and impaired glucose metabolism 11 test
  • Microcephaly, short stature, and impaired glucose metabolism 22 tests
  • Microcephaly, short stature, and polymicrogyria with or without seizures3 tests
  • Microcephaly-capillary malformation syndrome1 test
  • Microcornea, myopic chorioretinal atrophy, and telecanthus3 tests
  • Microcytic anemia1 test
  • Microdeletion syndromes3 tests
  • Microduplication syndromes3 tests
  • Microphthalmia with brain and digit anomalies14 tests
  • Microphthalmia with limb anomalies4 tests
  • Microphthalmia, isolated 24 tests
  • Microphthalmia, isolated 33 tests
  • Microphthalmia, isolated 43 tests
  • Microphthalmia, isolated 58 tests
  • Microphthalmia, isolated 63 tests
  • Microphthalmia, isolated 73 tests
  • Microphthalmia, isolated 83 tests
  • Microphthalmia, isolated, with coloboma 103 tests
  • Microphthalmia, isolated, with coloboma 34 tests
  • Microphthalmia, isolated, with coloboma 55 tests
  • Microphthalmia, isolated, with coloboma 63 tests
  • Microphthalmia, isolated, with coloboma 73 tests
  • Microphthalmia, isolated, with coloboma 92 tests
  • Microphthalmia, syndromic 113 tests
  • Microphthalmia, syndromic 124 tests
  • Microphthalmia, syndromic 133 tests
  • Microphthalmia/coloboma and skeletal dysplasia syndrome5 tests
  • Microspherophakia4 tests
  • Microtia, hearing impairment, and cleft palate1 test
  • Microvascular complications of diabetes 31 test
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1 test
  • Migraine, with or without aura 131 test
  • Miller Dieker syndrome1 test
  • Miller syndrome6 tests
  • Minicore myopathy with external ophthalmoplegia7 tests
  • Mirage syndrome4 tests
  • Mirror movements 22 tests
  • Mitchell-Riley syndrome4 tests
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency5 tests
  • Mitochondrial complex 1 deficiency, nuclear type 102 tests
  • Mitochondrial complex 1 deficiency, nuclear type 111 test
  • Mitochondrial complex 1 deficiency, nuclear type 124 tests
  • Mitochondrial complex 1 deficiency, nuclear type 132 tests
  • Mitochondrial complex 1 deficiency, nuclear type 141 test
  • Mitochondrial complex 1 deficiency, nuclear type 152 tests
  • Mitochondrial complex 1 deficiency, nuclear type 163 tests
  • Mitochondrial complex 1 deficiency, nuclear type 172 tests
  • Mitochondrial complex 1 deficiency, nuclear type 181 test
  • Mitochondrial complex 1 deficiency, nuclear type 192 tests
  • Mitochondrial complex 1 deficiency, nuclear type 22 tests
  • Mitochondrial complex 1 deficiency, nuclear type 211 test
  • Mitochondrial complex 1 deficiency, nuclear type 222 tests
  • Mitochondrial complex 1 deficiency, nuclear type 232 tests
  • Mitochondrial complex 1 deficiency, nuclear type 241 test
  • Mitochondrial complex 1 deficiency, nuclear type 251 test
  • Mitochondrial complex 1 deficiency, nuclear type 262 tests
  • 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 32 tests
  • Mitochondrial complex 1 deficiency, nuclear type 303 tests
  • Mitochondrial complex 1 deficiency, nuclear type 311 test
  • Mitochondrial complex 1 deficiency, nuclear type 322 tests
  • Mitochondrial complex 1 deficiency, nuclear type 341 test
  • Mitochondrial complex 1 deficiency, nuclear type 351 test
  • Mitochondrial complex 1 deficiency, nuclear type 43 tests
  • Mitochondrial complex 1 deficiency, nuclear type 52 tests
  • Mitochondrial complex 1 deficiency, nuclear type 61 test
  • Mitochondrial complex 1 deficiency, nuclear type 71 test
  • Mitochondrial complex 1 deficiency, nuclear type 82 tests
  • Mitochondrial complex 1 deficiency, nuclear type 91 test
  • Mitochondrial complex 4 deficiency, nuclear type 161 test
  • Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 53 tests
  • Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61 test
  • Mitochondrial complex I deficiency16 tests
  • Mitochondrial complex I deficiency, nuclear type 13 tests
  • Mitochondrial complex II deficiency, nuclear type 14 tests
  • Mitochondrial complex III deficiency1 test
  • Mitochondrial complex III deficiency, nuclear type 15 tests
  • Mitochondrial complex III deficiency, nuclear type 24 tests
  • Mitochondrial complex III deficiency, nuclear type 34 tests
  • Mitochondrial complex III deficiency, nuclear type 44 tests
  • Mitochondrial complex III deficiency, nuclear type 55 tests
  • Mitochondrial complex III deficiency, nuclear type 63 tests
  • Mitochondrial complex III deficiency, nuclear type 73 tests
  • Mitochondrial complex III deficiency, nuclear type 84 tests
  • Mitochondrial complex III deficiency, nuclear type 94 tests
  • Mitochondrial complex IV deficiency14 tests
  • Mitochondrial complex v (atp synthase) deficiency, nuclear type 43 tests
  • Mitochondrial disease2 tests
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)7 tests
  • Mitochondrial DNA depletion syndrome 115 tests
  • Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant4 tests
  • Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive5 tests
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)9 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)3 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 16 (hepatic type)1 test
  • Mitochondrial DNA depletion syndrome 171 test
  • Mitochondrial DNA depletion syndrome 181 test
  • Mitochondrial DNA depletion syndrome 25 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type8 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)8 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)6 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy6 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral8 tests
  • Mitochondrial myopathy3 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
  • Mitochondrial phosphate carrier deficiency3 tests
  • Mitochondrial pyruvate carrier deficiency4 tests
  • Mitochondrial short-chain enoyl-coa hydratase 1 deficiency4 tests
  • Mitochondrial trifunctional protein deficiency10 tests
  • Mitral valve prolapse 22 tests
  • Miyoshi muscular dystrophy 12 tests
  • Miyoshi muscular dystrophy 32 tests
  • Miyoshi myopathy2 tests
  • Molybdenum cofactor deficiency, complementation group A4 tests
  • Molybdenum cofactor deficiency, complementation group B3 tests
  • Molybdenum cofactor deficiency, complementation group C3 tests
  • Monocarboxylate transporter 1 deficiency4 tests
  • Monosomy 7 myelodysplasia and leukemia syndrome 21 test
  • MORM syndrome4 tests
  • Mosaic variegated aneuploidy syndrome 12 tests
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mosaic variegated aneuploidy syndrome 32 tests
  • Movement disorder1 test
  • Mowat-Wilson syndrome12 tests
  • Moyamoya disease 21 test
  • Moyamoya disease 56 tests
  • Moyamoya disease 6 with achalasia1 test
  • MPDU1-CDG4 tests
  • MPI-CDG4 tests
  • Mucolipidosis type II4 tests
  • Mucolipidosis type III gamma3 tests
  • Mucolipidosis type IV3 tests
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 74 tests
  • Mucopolysaccharidosis, MPS-I-H/S3 tests
  • Mucopolysaccharidosis, MPS-I-S4 tests
  • Mucopolysaccharidosis, MPS-II4 tests
  • Mucopolysaccharidosis, MPS-III-A5 tests
  • Mucopolysaccharidosis, MPS-III-B3 tests
  • Mucopolysaccharidosis, MPS-III-C4 tests
  • Mucopolysaccharidosis, MPS-III-D3 tests
  • Mucopolysaccharidosis, MPS-IV-A4 tests
  • Mucopolysaccharidosis, MPS-IV-B3 tests
  • Mucopolysaccharidosis-plus syndrome2 tests
  • Mucosa-associated lymphoma1 test
  • Muenke syndrome9 tests
  • Muir-Torré syndrome10 tests
  • Mulibrey nanism syndrome3 tests
  • Mullegama-Klein-Martinez syndrome3 tests
  • Mullerian aplasia and hyperandrogenism7 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy3 tests
  • Multiple acyl-CoA dehydrogenase deficiency14 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 15 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 27 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 32 tests
  • Multiple congenital exostosis4 tests
  • Multiple endocrine neoplasia, type 14 tests
  • Multiple endocrine neoplasia, type 2a5 tests
  • Multiple endocrine neoplasia, type 2b5 tests
  • Multiple endocrine neoplasia, type 42 tests
  • Multiple epiphyseal dysplasia 12 tests
  • Multiple epiphyseal dysplasia 65 tests
  • Multiple epiphyseal dysplasia type 45 tests
  • Multiple epiphyseal dysplasia type 52 tests
  • Multiple exostoses type 24 tests
  • Multiple fibrofolliculomas3 tests
  • Multiple gastrointestinal atresias2 tests
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects3 tests
  • Multiple mitochondrial dysfunctions syndrome 14 tests
  • Multiple mitochondrial dysfunctions syndrome 25 tests
  • Multiple mitochondrial dysfunctions syndrome 33 tests
  • Multiple mitochondrial dysfunctions syndrome 43 tests
  • Multiple mitochondrial dysfunctions syndrome 51 test
  • Multiple mitochondrial dysfunctions syndrome 61 test
  • Multiple myeloma3 tests
  • Multiple self-healing squamous epithelioma2 tests
  • Multiple sulfatase deficiency5 tests
  • Multiple synostoses syndrome 24 tests
  • Multiple synostoses syndrome 41 test
  • Multiple system atrophy2 tests
  • Multisystemic smooth muscle dysfunction syndrome6 tests
  • Mungan syndrome3 tests
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease7 tests
  • Muscular dystrophy, congenital, davignon-chauveau type3 tests
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency3 tests
  • Muscular dystrophy, limb-girdle, autosomal recessive 232 tests
  • Muscular dystrophy, limb-girdle, type 2R1 test
  • Muscular dystrophy, limb-girdle, type 2W3 tests
  • Muscular dystrophy, limb-girdle, type 2X2 tests
  • Muscular dystrophy, limb-girdle, type 2y2 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 18 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 105 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 115 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 126 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 135 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 145 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 85 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 92 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 144 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 122 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 147 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71 test
  • Mutilating keratoderma3 tests
  • Myasthenia, limb-girdle, familial4 tests
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency2 tests
  • Myasthenic syndrome, congenital, 142 tests
  • Myasthenic syndrome, congenital, 152 tests
  • Myasthenic syndrome, congenital, 171 test
  • Myasthenic syndrome, congenital, 183 tests
  • Myasthenic syndrome, congenital, 193 tests
  • Myasthenic syndrome, congenital, 20, presynaptic1 test
  • Myasthenic syndrome, congenital, 21, presynaptic4 tests
  • Myasthenic syndrome, congenital, 222 tests
  • Myasthenic syndrome, congenital, 23, presynaptic2 tests
  • Myasthenic syndrome, congenital, 24, presynaptic2 tests
  • Myasthenic syndrome, congenital, 25, presynaptic1 test
  • Myasthenic syndrome, congenital, 2a, slow-channel2 tests
  • Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 3a, slow-channel2 tests
  • Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency2 tests
  • Myasthenic syndrome, congenital, 4a, slow-channel2 tests
  • Myasthenic syndrome, congenital, 4b, fast-channel2 tests
  • Myasthenic syndrome, congenital, 7, presynaptic4 tests
  • Myasthenic syndrome, congenital, 82 tests
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency2 tests
  • Myasthenic syndrome, slow-channel congenital5 tests
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive3 tests
  • Mycobacterium tuberculosis, susceptibility to1 test
  • Myelodysplastic syndrome4 tests
  • Myelofibrosis2 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to5 tests
  • MYH-associated polyposis8 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy3 tests
  • Myhre syndrome5 tests
  • Myocardial infarction 11 test
  • Myoclonic dystonia 112 tests
  • Myoclonic epilepsy, familial infantile6 tests
  • Myoclonic-atonic epilepsy5 tests
  • Myoclonus, familial, 23 tests
  • Myoclonus, intractable, neonatal2 tests
  • Myofibrillar myopathy 14 tests
  • Myofibrillar myopathy 35 tests
  • Myofibrillar myopathy, BAG3-related6 tests
  • Myofibrillar myopathy, filamin C-related2 tests
  • Myofibrillar myopathy, ZASP-related5 tests
  • Myoglobinuria, acute recurrent, autosomal recessive4 tests
  • Myopathy with extrapyramidal signs2 tests
  • Myopathy with lactic acidosis, hereditary3 tests
  • Myopathy with postural muscle atrophy, X-linked5 tests
  • Myopathy with tubular aggregates2 tests
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset4 tests
  • Myopathy, centronuclear, 13 tests
  • Myopathy, centronuclear, 23 tests
  • Myopathy, centronuclear, 31 test
  • Myopathy, centronuclear, 43 tests
  • Myopathy, centronuclear, 52 tests
  • Myopathy, centronuclear, 6, with fiber-type disproportion1 test
  • Myopathy, congenital, compton-north4 tests
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies2 tests
  • Myopathy, distal, 14 tests
  • Myopathy, distal, 42 tests
  • Myopathy, distal, 52 tests
  • Myopathy, distal, with anterior tibial onset3 tests
  • Myopathy, early-onset, with fatal cardiomyopathy1 test
  • Myopathy, isolated mitochondrial, autosomal dominant1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 13 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 22 tests
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay2 tests
  • Myopathy, myofibrillar, 72 tests
  • Myopathy, myofibrillar, 82 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure2 tests
  • Myopathy, myosin storage, autosomal recessive2 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Myopathy, tubular aggregate, 14 tests
  • Myopathy, vacuolar, with casq1 aggregates1 test
  • Myopia 61 test
  • Myopia, high, with cataract and vitreoretinal degeneration3 tests
  • Myosclerosis, autosomal recessive1 test
  • Myosin storage myopathy3 tests
  • N-terminal acetyltransferase deficiency7 tests
  • Naegeli-Franceschetti-Jadassohn syndrome2 tests
  • Nager syndrome9 tests
  • Nail disorder, nonsyndromic congenital, 83 tests
  • Nail-patella syndrome5 tests
  • Namaqualand hip dysplasia10 tests
  • Nance-Horan syndrome7 tests
  • Nanophthalmos 23 tests
  • Nanophthalmos 41 test
  • NARP syndrome1 test
  • Nasopharyngeal carcinoma1 test
  • Navajo neurohepatopathy6 tests
  • Naxos disease3 tests
  • NDE1-related microhydranencephaly2 tests
  • Nemaline myopathy1 test
  • Nemaline myopathy 14 tests
  • Nemaline myopathy 104 tests
  • Nemaline myopathy 11, autosomal recessive3 tests
  • Nemaline myopathy 28 tests
  • Nemaline myopathy 35 tests
  • Nemaline myopathy 44 tests
  • Nemaline myopathy 54 tests
  • Nemaline myopathy 64 tests
  • Nemaline myopathy 74 tests
  • Nemaline myopathy 87 tests
  • Nemaline myopathy 92 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency7 tests
  • Neonatal pseudo-hydrocephalic progeroid syndrome2 tests
  • Neonatal respiratory distress1 test
  • Neonatal severe hyperparathyroidism2 tests
  • Neoplasm of ovary4 tests
  • Neoplasm of stomach1 test
  • Nephroblastoma2 tests
  • Nephrogenic diabetes insipidus, autosomal2 tests
  • Nephrogenic diabetes insipidus, X-linked2 tests
  • Nephrogenic syndrome of inappropriate antidiuresis2 tests
  • Nephrolithiasis susceptibility caused by SLC26A12 tests
  • Nephrolithiasis/nephrocalcinosis1 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 14 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 23 tests
  • Nephronophthisis 15 tests
  • Nephronophthisis 113 tests
  • Nephronophthisis 126 tests
  • Nephronophthisis 133 tests
  • Nephronophthisis 145 tests
  • Nephronophthisis 158 tests
  • Nephronophthisis 164 tests
  • Nephronophthisis 184 tests
  • Nephronophthisis 195 tests
  • Nephronophthisis 201 test
  • Nephronophthisis 35 tests
  • Nephronophthisis 44 tests
  • Nephronophthisis 74 tests
  • Nephronophthisis 94 tests
  • Nephronophthisis type 61 test
  • Nephronophthisis-like nephropathy 12 tests
  • Nephropathic cystinosis3 tests
  • Nephrotic syndrome type 142 tests
  • Nephrotic syndrome type 153 tests
  • Nephrotic syndrome, type 102 tests
  • Nephrotic syndrome, type 115 tests
  • Nephrotic syndrome, type 122 tests
  • Nephrotic syndrome, type 132 tests
  • Nephrotic syndrome, type 182 tests
  • Nephrotic syndrome, type 191 test
  • Nephrotic syndrome, type 201 test
  • Nephrotic syndrome, type 212 tests
  • Nephrotic syndrome, type 32 tests
  • Nephrotic syndrome, type 43 tests
  • Nephrotic syndrome, type 5, with or without ocular abnormalities4 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 72 tests
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 94 tests
  • Nestor-Guillermo progeria syndrome1 test
  • Netherton syndrome3 tests
  • Neu-Laxova syndrome 15 tests
  • Neu-laxova syndrome 23 tests
  • Neural tube defect1 test
  • Neural tube defects, folate-sensitive3 tests
  • Neuroblastoma4 tests
  • Neuroblastoma 11 test
  • Neuroblastoma 24 tests
  • Neuroblastoma 34 tests
  • Neurocutaneous melanocytosis4 tests
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
  • Neurodegeneration with brain iron accumulation 2b2 tests
  • Neurodegeneration with brain iron accumulation 44 tests
  • Neurodegeneration with brain iron accumulation 58 tests
  • Neurodegeneration with brain iron accumulation 63 tests
  • Neurodegeneration with brain iron accumulation 71 test
  • Neurodegeneration with brain iron accumulation 81 test
  • Neurodegeneration, infantile-onset, biotin-responsive1 test
  • Neurodevelopmental disorder and language delay with or without structural brain abnormalities1 test
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1 test
  • Neurodevelopmental disorder with absent language and variable seizures1 test
  • Neurodevelopmental disorder with alopecia and brain abnormalities1 test
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter1 test
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2 tests
  • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities3 tests
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1 test
  • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum1 test
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination2 tests
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language1 test
  • Neurodevelopmental disorder with involuntary movements3 tests
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity2 tests
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy1 test
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination1 test
  • Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures2 tests
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart2 tests
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2 tests
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive2 tests
  • Neurodevelopmental disorder with or without seizures and gait abnormalities1 test
  • Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1 test
  • Neurodevelopmental disorder with poor language and loss of hand skills2 tests
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1 test
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures4 tests
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
  • Neurodevelopmental disorder with seizures and speech and walking impairment1 test
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2 tests
  • Neurodevelopmental, jaw, eye, and digital syndrome1 test
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, familial spinal8 tests
  • Neurofibromatosis, type 116 tests
  • Neurofibromatosis, type 23 tests
  • Neurofibromatosis-Noonan syndrome10 tests
  • Neurohypophyseal diabetes insipidus2 tests
  • Neurological deficit1 test
  • Neuromuscular disease1 test
  • Neuronal ceroid lipofuscinosis 18 tests
  • Neuronal ceroid lipofuscinosis 106 tests
  • Neuronal ceroid lipofuscinosis 39 tests
  • Neuronal ceroid lipofuscinosis 4B5 tests
  • Neuronal ceroid lipofuscinosis 55 tests
  • Neuronal ceroid lipofuscinosis 65 tests
  • Neuronal ceroid lipofuscinosis 77 tests
  • Neuronal ceroid lipofuscinosis 86 tests
  • Neuronopathy, distal hereditary motor, type viia4 tests
  • Neurooculocardiogenitourinary syndrome3 tests
  • Neuropathy, hereditary motor and sensory, Russe type1 test
  • Neuropathy, hereditary motor and sensory, type 6B3 tests
  • Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers4 tests
  • Neuropathy, hereditary sensory and autonomic, type VI3 tests
  • Neuropathy, hereditary sensory and autonomic, type VII2 tests
  • Neuropathy, hereditary sensory and autonomic, type VIII2 tests
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive5 tests
  • Neutral lipid storage myopathy5 tests
  • Neutropenia, nonimmune chronic idiopathic, of adults3 tests
  • Neutropenia, severe congenital 1, autosomal dominant5 tests
  • Neutropenia, severe congenital, 7, autosomal recessive2 tests
  • Neutropenia, severe congenital, 8, autosomal dominant1 test
  • Neutrophil immunodeficiency syndrome2 tests
  • Newfoundland rod-cone dystrophy3 tests
  • Nicolaides-Baraitser syndrome3 tests
  • Niemann-Pick disease type C16 tests
  • Niemann-Pick disease, type A4 tests
  • Niemann-Pick disease, type B5 tests
  • Niemann-Pick disease, type C26 tests
  • Night blindness, congenital stationary, type 1g2 tests
  • Night blindness, congenital stationary, type 1h1 test
  • Nijmegen breakage syndrome-like disorder4 tests
  • NODAL-Related Holoprosencephaly1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities6 tests
  • Non-Hodgkin lymphoma1 test
  • Non-ketotic hyperglycinemia6 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to1 test
  • Nonepidermolytic palmoplantar hyperkeratosis2 tests
  • Nonmedullary thyroid carcinoma 11 test
  • Noonan syndrome1 test
  • Noonan syndrome 117 tests
  • Noonan syndrome 105 tests
  • Noonan syndrome 112 tests
  • Noonan syndrome 121 test
  • Noonan syndrome 131 test
  • Noonan syndrome 22 tests
  • Noonan syndrome 311 tests
  • Noonan syndrome 411 tests
  • Noonan syndrome 59 tests
  • Noonan syndrome 611 tests
  • Noonan syndrome 710 tests
  • Noonan syndrome 86 tests
  • Noonan syndrome 94 tests
  • Noonan syndrome-like disorder with loose anagen hair3 tests
  • Noonan syndrome-like disorder with loose anagen hair 14 tests
  • Noonan syndrome-like disorder with loose anagen hair 25 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia8 tests
  • Normal pressure hydrocephalus1 test
  • Norman-Roberts syndrome7 tests
  • North Carolina macular dystrophy2 tests
  • Nuclear pulverulent cataract4 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 13 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 29 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 33 tests
  • Nystagmus 6, congenital, X-linked3 tests
  • O'Donnell-Luria-Rodan syndrome3 tests
  • Obesity10 tests
  • Obesity, hyperphagia, and developmental delay3 tests
  • Occult macular dystrophy2 tests
  • Ochoa syndrome2 tests
  • Ocular albinism, type I3 tests
  • Ocular albinism, type II3 tests
  • Ocular coloboma, autosomal recessive1 test
  • Ocular cystinosis3 tests
  • Oculoauricular syndrome3 tests
  • Oculocutaneous albinism1 test
  • Oculocutaneous albinism type 13 tests
  • Oculocutaneous albinism type 1B3 tests
  • Oculocutaneous albinism type 33 tests
  • Oculocutaneous albinism type 43 tests
  • Oculodentodigital dysplasia9 tests
  • Oculodentodigital dysplasia, autosomal recessive7 tests
  • Oculofaciocardiodental syndrome11 tests
  • Oculomaxillofacial dysostosis4 tests
  • Oculootoradial syndrome5 tests
  • Oculopharyngeal muscular dystrophy1 test
  • Oculotrichoanal syndrome8 tests
  • Odonto-onycho-dermal dysplasia2 tests
  • Oguchi disease2 tests
  • Oguchi disease 11 test
  • Oguchi disease 22 tests
  • Ohdo syndrome, X-linked10 tests
  • Oligodontia-colorectal cancer syndrome5 tests
  • Oligosynaptic infertility2 tests
  • Oocyte maturation defect 13 tests
  • Opitz GBBB syndrome, type I9 tests
  • Opitz GBBB syndrome, type II7 tests
  • Opsismodysplasia1 test
  • Optic atrophy2 tests
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures2 tests
  • Optic atrophy 37 tests
  • Optic atrophy 54 tests
  • Optic atrophy 74 tests
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy8 tests
  • Optic nerve hypoplasia, bilateral7 tests
  • Ornithine aminotransferase deficiency4 tests
  • Ornithine carbamoyltransferase deficiency7 tests
  • Orofacial cleft 101 test
  • Orofacial cleft 117 tests
  • Orofacial cleft 151 test
  • Orofacial cleft 52 tests
  • Orofacial cleft 6, susceptibility to3 tests
  • Orofacial cleft 84 tests
  • Orofacial-digital syndrome IV4 tests
  • Orofaciodigital syndrome 163 tests
  • Orofaciodigital syndrome 173 tests
  • Orofaciodigital syndrome I6 tests
  • Orofaciodigital syndrome type 63 tests
  • Orofaciodigital syndrome xiv3 tests
  • Orotic aciduria1 test
  • Orthostatic hypotension 11 test
  • Osteoarthritis of hip2 tests
  • Osteochondrodysplasia, brachydactyly, and overlapping malformed digits3 tests
  • Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type5 tests
  • Osteocraniostenosis2 tests
  • Osteofibrous dysplasia1 test
  • Osteogenesis imperfecta type 105 tests
  • Osteogenesis imperfecta type 125 tests
  • Osteogenesis imperfecta type 55 tests
  • Osteogenesis imperfecta type 76 tests
  • Osteogenesis imperfecta type 86 tests
  • Osteogenesis imperfecta type 94 tests
  • Osteogenesis imperfecta type I9 tests
  • Osteogenesis imperfecta type III9 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form9 tests
  • Osteogenesis imperfecta, CREB3L1 related2 tests
  • Osteogenesis imperfecta, recessive perinatal lethal9 tests
  • Osteogenesis imperfecta, type 184 tests
  • Osteogenesis imperfecta, type 192 tests
  • Osteogenesis imperfecta, type 201 test
  • Osteogenesis imperfecta, type 211 test
  • Osteogenesis imperfecta, type VI5 tests
  • Osteogenesis imperfecta, type XI5 tests
  • Osteogenesis imperfecta, type xiii5 tests
  • Osteogenesis imperfecta, type xiv5 tests
  • Osteogenesis imperfecta, type xv5 tests
  • Osteogenesis imperfecta, type xvi1 test
  • Osteogenesis imperfecta, type xvii7 tests
  • Osteoglophonic dysplasia8 tests
  • Osteopathia striata with cranial sclerosis3 tests
  • Osteopetrosis with renal tubular acidosis4 tests
  • Osteopetrosis, autosomal recessive 52 tests
  • Osteopetrosis, autosomal recessive 82 tests
  • Osteoporosis with pseudoglioma1 test
  • Otitis media, susceptibility to1 test
  • Oto-palato-digital syndrome, type I13 tests
  • Oto-palato-digital syndrome, type II14 tests
  • Otofaciocervical syndrome 13 tests
  • Otofaciocervical syndrome 21 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant7 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive7 tests
  • Ovalocytosis, southeast Asian1 test
  • Ovarian dysgenesis 15 tests
  • Ovarian dysgenesis 25 tests
  • Ovarian dysgenesis 35 tests
  • Ovarian dysgenesis 45 tests
  • Ovarian dysgenesis 52 tests
  • Ovarian dysgenesis 71 test
  • Ovarian hyperstimulation syndrome3 tests
  • Overhydrated hereditary stomatocytosis1 test
  • Oxoglutaricaciduria1 test
  • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures2 tests
  • Paget disease of bone 2, early-onset4 tests
  • Paget disease of bone 34 tests
  • Pallister-Hall syndrome14 tests
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal5 tests
  • Palmoplantar keratoderma and woolly hair2 tests
  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked3 tests
  • Palmoplantar keratoderma-deafness syndrome3 tests
  • Pancreatic agenesis 13 tests
  • Pancreatic agenesis 23 tests
  • Pancreatic agenesis and congenital heart disease4 tests
  • Pancreatic cancer 12 tests
  • Pancreatic cancer 211 tests
  • Pancreatic cancer 37 tests
  • Pancreatic cancer 49 tests
  • Pancreatic lipase deficiency1 test
  • Panhypopituitarism, X-linked9 tests
  • Papillon-Lefèvre syndrome2 tests
  • Paragangliomas 15 tests
  • Paragangliomas 24 tests
  • Paragangliomas 35 tests
  • Paragangliomas 47 tests
  • Paragangliomas 56 tests
  • Paragangliomas 71 test
  • Paramyotonia congenita of von Eulenburg2 tests
  • Parastremmatic dwarfism1 test
  • Parathyroid carcinoma5 tests
  • Parietal foramina 12 tests
  • Parietal foramina 22 tests
  • Parietal foramina with cleidocranial dysplasia2 tests
  • Paris-Trousseau thrombocytopenia2 tests
  • Parkinson disease1 test
  • Parkinson disease 13 tests
  • Parkinson disease 112 tests
  • Parkinson disease 133 tests
  • Parkinson disease 143 tests
  • Parkinson disease 153 tests
  • Parkinson disease 172 tests
  • Parkinson disease 182 tests
  • Parkinson disease 19a, juvenile-onset3 tests
  • Parkinson disease 23 tests
  • Parkinson disease 20, early-onset4 tests
  • Parkinson disease 22, autosomal dominant2 tests
  • Parkinson disease 23, autosomal recessive early-onset2 tests
  • Parkinson disease 43 tests
  • Parkinson disease 52 tests
  • Parkinson disease 6, autosomal recessive early-onset3 tests
  • Parkinson disease 73 tests
  • Parkinson disease 8, autosomal dominant3 tests
  • Parkinson disease, late-onset5 tests
  • Parkinson-dementia syndrome1 test
  • Parkinsonism with spasticity, X-linked4 tests
  • Parkinsonism-dystonia, infantile2 tests
  • Parkinsonism-dystonia, infantile, 12 tests
  • Parkinsonism-dystonia, infantile, 21 test
  • Paroxysmal extreme pain disorder3 tests
  • Paroxysmal familial ventricular fibrillation 11 test
  • Paroxysmal nocturnal hemoglobinuria 15 tests
  • Paroxysmal nocturnal hemoglobinuria 21 test
  • Paroxysmal non-kinesigenic dyskinesia2 tests
  • Paroxysmal nonkinesigenic dyskinesia 11 test
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy2 tests
  • Partial albinism1 test
  • Partial androgen insensitivity syndrome2 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome5 tests
  • Partington syndrome7 tests
  • Patent ductus arteriosus 22 tests
  • Patent ductus arteriosus 31 test
  • Patterned dystrophy of the retinal pigment epithelium3 tests
  • Pearson syndrome1 test
  • Peeling skin syndrome 23 tests
  • Pelger-Huët anomaly4 tests
  • Pelizaeus-Merzbacher disease6 tests
  • Pelviscapular dysplasia5 tests
  • Pena-Shokeir syndrome type I5 tests
  • Pendred syndrome4 tests
  • PERCHING syndrome1 test
  • Periodic fever, menstrual cycle-dependent1 test
  • Periodontitis, aggressive, 11 test
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease10 tests
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss2 tests
  • Periventricular nodular heterotopia 114 tests
  • Periventricular nodular heterotopia 61 test
  • Periventricular nodular heterotopia 77 tests
  • Periventricular nodular heterotopia 91 test
  • Perlman syndrome6 tests
  • Permanent neonatal diabetes mellitus3 tests
  • Permanent neonatal diabetes mellitus 11 test
  • Permanent neonatal diabetes mellitus 22 tests
  • Permanent neonatal diabetes mellitus 33 tests
  • Permanent neonatal diabetes mellitus 42 tests
  • Peroxisomal acyl-CoA oxidase deficiency4 tests
  • Peroxisomal fatty acyl-coa reductase 1 disorder1 test
  • Peroxisome biogenesis disorder 10A10 tests
  • Peroxisome biogenesis disorder 10b6 tests
  • Peroxisome biogenesis disorder 11A9 tests
  • Peroxisome biogenesis disorder 11B8 tests
  • Peroxisome biogenesis disorder 12A8 tests
  • Peroxisome biogenesis disorder 13A8 tests
  • Peroxisome biogenesis disorder 14B9 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 1B13 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 2B7 tests
  • Peroxisome biogenesis disorder 3A11 tests
  • Peroxisome biogenesis disorder 4a (zellweger)11 tests
  • Peroxisome biogenesis disorder 4B11 tests
  • Peroxisome biogenesis disorder 5a (zellweger)10 tests
  • Peroxisome biogenesis disorder 5B9 tests
  • Peroxisome biogenesis disorder 6A10 tests
  • Peroxisome biogenesis disorder 6B10 tests
  • Peroxisome biogenesis disorder 7A11 tests
  • Peroxisome biogenesis disorder 7B9 tests
  • Peroxisome biogenesis disorder 8A8 tests
  • Peroxisome biogenesis disorder 8B9 tests
  • Peroxisome biogenesis disorder 9B8 tests
  • Peroxisome biogenesis disorder type 3B6 tests
  • Perrault syndrome1 test
  • Perrault syndrome 17 tests
  • Perrault syndrome 23 tests
  • Perrault syndrome 36 tests
  • Perrault syndrome 43 tests
  • Perrault syndrome 54 tests
  • Perrault syndrome 61 test
  • Perry syndrome6 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive3 tests
  • Persistent Mullerian duct syndrome3 tests
  • Peters plus syndrome9 tests
  • Pettigrew syndrome2 tests
  • Peutz-Jeghers syndrome10 tests
  • Pfeiffer syndrome13 tests
  • Phenylketonuria3 tests
  • Pheochromocytoma11 tests
  • Phosphate transport defect6 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic4 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial4 tests
  • Phosphoglycerate dehydrogenase deficiency4 tests
  • Phosphoglycerate kinase 1 deficiency7 tests
  • Phosphoribosylpyrophosphate synthetase superactivity3 tests
  • Phosphoserine aminotransferase deficiency2 tests
  • Phytanic acid storage disease4 tests
  • Pick disease3 tests
  • Pierpont syndrome3 tests
  • Pierson syndrome3 tests
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked1 test
  • Pigmentary pallidal degeneration2 tests
  • Pigmentary retinal dystrophy11 tests
  • Pigmented nodular adrenocortical disease, primary, 13 tests
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented paravenous chorioretinal atrophy2 tests
  • Pili torti-deafness syndrome5 tests
  • Pilomatrixoma2 tests
  • Pineal hyperplasia AND diabetes mellitus syndrome2 tests
  • Pitt-Hopkins syndrome9 tests
  • Pitt-Hopkins-like syndrome 17 tests
  • Pitt-Hopkins-like syndrome 27 tests
  • Pituitary adenoma 3, multiple types1 test
  • Pituitary adenoma 5, multiple types1 test
  • Pituitary dependent hypercortisolism1 test
  • Pituitary hormone deficiency, combined 29 tests
  • Pituitary hormone deficiency, combined 63 tests
  • Pituitary hormone deficiency, combined, 12 tests
  • Pityriasis rubra pilaris2 tests
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1 test
  • Platelet glycoprotein IV deficiency3 tests
  • Platelet-type bleeding disorder 113 tests
  • Platelet-type bleeding disorder 13, susceptibility to3 tests
  • Platelet-type bleeding disorder 153 tests
  • Platelet-type bleeding disorder 162 tests
  • Platelet-type bleeding disorder 173 tests
  • Platelet-type bleeding disorder 193 tests
  • Platelet-type bleeding disorder 84 tests
  • Platelet-type bleeding disorder 92 tests
  • Platyspondylic dysplasia, Torrance type10 tests
  • Pleuropulmonary blastoma1 test
  • Pneumothorax, primary spontaneous3 tests
  • Poikiloderma with neutropenia3 tests
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis1 test
  • Poirier-Bienvenu neurodevelopmental syndrome1 test
  • Polyarteritis nodosa, childhoood-onset2 tests
  • Polycystic kidney disease 26 tests
  • Polycystic kidney disease 35 tests
  • Polycystic kidney disease 41 test
  • Polycystic kidney disease 53 tests
  • Polycystic kidney disease 6 with or without polycystic liver disease5 tests
  • Polycystic kidney disease, adult type1 test
  • Polycystic kidney dysplasia1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 12 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 23 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly2 tests
  • Polycystic liver disease 14 tests
  • Polycystic liver disease 3 with or without kidney cysts3 tests
  • Polycystic liver disease 4 with or without kidney cysts2 tests
  • Polycythemia vera2 tests
  • Polydactyly, postaxial, type a102 tests
  • Polydactyly, postaxial, type a72 tests
  • Polydactyly, postaxial, type A82 tests
  • Polydactyly, postaxial, type A92 tests
  • Polydactyly, preaxial II4 tests
  • Polyendocrine-polyneuropathy syndrome2 tests
  • Polyglandular autoimmune syndrome, type 18 tests
  • Polyglucosan body myopathy 1 with or without immunodeficiency3 tests
  • Polyglucosan body myopathy 22 tests
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy2 tests
  • Polymicrogyria with optic nerve hypoplasia4 tests
  • Polymicrogyria with or without vascular-type ehlers-danlos syndrome3 tests
  • Polymicrogyria, asymmetric6 tests
  • Polymicrogyria, bilateral frontoparietal6 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive4 tests
  • Polymicrogyria, bilateral temporooccipital3 tests
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1 test
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract5 tests
  • Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal1 test
  • Pontocerebellar hypoplasia type 12 tests
  • Pontocerebellar hypoplasia type 1A2 tests
  • Pontocerebellar hypoplasia type 2A4 tests
  • Pontocerebellar hypoplasia type 2B4 tests
  • Pontocerebellar hypoplasia type 2C4 tests
  • Pontocerebellar hypoplasia type 2D3 tests
  • Pontocerebellar hypoplasia type 31 test
  • Pontocerebellar hypoplasia type 46 tests
  • Pontocerebellar hypoplasia type 54 tests
  • Pontocerebellar hypoplasia type 65 tests
  • Pontocerebellar hypoplasia type 84 tests
  • Pontocerebellar hypoplasia, type 103 tests
  • Pontocerebellar hypoplasia, type 111 test
  • Pontocerebellar hypoplasia, type 121 test
  • Pontocerebellar hypoplasia, type 131 test
  • Pontocerebellar hypoplasia, type 1b5 tests
  • Pontocerebellar hypoplasia, type 1c1 test
  • Pontocerebellar hypoplasia, type 1D1 test
  • Pontocerebellar hypoplasia, type 2e3 tests
  • Pontocerebellar hypoplasia, type 2f3 tests
  • Pontocerebellar hypoplasia, type 74 tests
  • Pontocerebellar hypoplasia, type 93 tests
  • Popliteal pterygium syndrome8 tests
  • Porencephaly 28 tests
  • Poretti-Boltshauser syndrome1 test
  • Porokeratosis 3, disseminated superficial actinic type3 tests
  • Porphobilinogen synthase deficiency2 tests
  • Portal hypertension, noncirrhotic4 tests
  • Postaxial polydactyly2 tests
  • Postaxial polydactyly type A17 tests
  • Postaxial polydactyly type A62 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome5 tests
  • Posterior polymorphous corneal dystrophy 12 tests
  • Posterior polymorphous corneal dystrophy 31 test
  • Postmenopausal osteoporosis8 tests
  • Potassium-aggravated myotonia3 tests
  • Potocki-Lupski syndrome1 test
  • Prader-Willi syndrome1 test
  • Preaxial hand polydactyly2 tests
  • Preaxial polydactyly 49 tests
  • Preeclampsia/eclampsia 11 test
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Preimplantation embryonic lethality 22 tests
  • Premature aging syndrome, Penttinen type3 tests
  • Premature chromatid separation trait2 tests
  • Premature ovarian failure 13 tests
  • Premature ovarian failure 104 tests
  • Premature ovarian failure 122 tests
  • Premature ovarian failure 152 tests
  • Premature ovarian failure 171 test
  • Premature ovarian failure 33 tests
  • Premature ovarian failure 53 tests
  • Premature ovarian failure 64 tests
  • Premature ovarian failure 75 tests
  • Premature ovarian failure 84 tests
  • Premature ovarian failure 94 tests
  • Pretibial dystrophic epidermolysis bullosa4 tests
  • Primary aldosteronism, seizures, and neurologic abnormalities4 tests
  • Primary autosomal recessive microcephaly 13 tests
  • Primary autosomal recessive microcephaly 101 test
  • Primary autosomal recessive microcephaly 151 test
  • Primary autosomal recessive microcephaly 25 tests
  • Primary autosomal recessive microcephaly 34 tests
  • Primary autosomal recessive microcephaly 42 tests
  • Primary autosomal recessive microcephaly 53 tests
  • Primary autosomal recessive microcephaly 63 tests
  • Primary autosomal recessive microcephaly 73 tests
  • Primary autosomal recessive microcephaly 82 tests
  • Primary autosomal recessive microcephaly 93 tests
  • Primary ciliary dyskinesia6 tests
  • Primary ciliary dyskinesia 234 tests
  • Primary ciliary dyskinesia 244 tests
  • Primary ciliary dyskinesia 254 tests
  • Primary dilated cardiomyopathy2 tests
  • Primary erythromelalgia3 tests
  • Primary familial polycythemia due to EPO receptor mutation3 tests
  • Primary hyperoxaluria, type I4 tests
  • Primary hyperoxaluria, type II3 tests
  • Primary hyperoxaluria, type III3 tests
  • Primary hypertrophic osteoarthropathy, autosomal recessive 21 test
  • Primary hypomagnesemia3 tests
  • Primary open angle glaucoma2 tests
  • Primary pulmonary hypertension 13 tests
  • Primary pulmonary hypertension 21 test
  • Primary pulmonary hypertension 34 tests
  • Primary pulmonary hypertension 42 tests
  • Progressive bulbar palsy of childhood4 tests
  • Progressive external ophthalmoplegia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 65 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 18 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 23 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 32 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 45 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
  • Progressive familial heart block type IB3 tests
  • Progressive familial heart block, type 1A3 tests
  • Progressive familial intrahepatic cholestasis2 tests
  • Progressive familial intrahepatic cholestasis 24 tests
  • Progressive familial intrahepatic cholestasis 34 tests
  • Progressive familial intrahepatic cholestasis 43 tests
  • Progressive myoclonus epilepsy with ataxia1 test
  • Progressive myositis ossificans1 test
  • Progressive osseous heteroplasia5 tests
  • Progressive sclerosing poliodystrophy11 tests
  • Progressive supranuclear ophthalmoplegia2 tests
  • Prolactin-producing pituitary gland adenoma1 test
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome3 tests
  • Proopiomelanocortin deficiency3 tests
  • Propionic acidemia9 tests
  • Proprotein convertase 1/3 deficiency9 tests
  • Prostate cancer, hereditary, 21 test
  • Proteasome-associated autoinflammatory syndrome 14 tests
  • Proteasome-associated autoinflammatory syndrome 21 test
  • Proteasome-associated autoinflammatory syndrome 33 tests
  • Protein-losing enteropathy1 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis2 tests
  • Prothrombin deficiency, congenital4 tests
  • Protoporphyria, erythropoietic, X-linked5 tests
  • Proximal symphalangism1 test
  • Pseudo von Willebrand disease1 test
  • Pseudo-Hurler polydystrophy3 tests
  • Pseudo-TORCH syndrome1 test
  • Pseudo-TORCH syndrome 12 tests
  • Pseudo-TORCH syndrome 22 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudocholinesterase deficiency1 test
  • Pseudohypoaldosteronism type 2B2 tests
  • Pseudohypoaldosteronism type 2C2 tests
  • Pseudohypoaldosteronism type 2D2 tests
  • Pseudohypoaldosteronism type 2E4 tests
  • Pseudohypoparathyroidism6 tests
  • Pseudohypoparathyroidism type 1B5 tests
  • Pseudohypoparathyroidism type 1C5 tests
  • Pseudopseudohypoparathyroidism4 tests
  • Pseudoxanthoma elasticum9 tests
  • Pseudoxanthoma elasticum, forme fruste4 tests
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency4 tests
  • Psoriasis susceptibility 22 tests
  • PULMONARY ALVEOLAR MICROLITHIASIS1 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 16 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 25 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 36 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 45 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 51 test
  • Pulmonary hypertension, neonatal, susceptibility to1 test
  • Pulmonary venoocclusive disease 1, autosomal dominant2 tests
  • Purine-nucleoside phosphorylase deficiency2 tests
  • Pustular psoriasis, generalized2 tests
  • Pyknodysostosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyridoxal phosphate-responsive seizures4 tests
  • Pyridoxine-dependent epilepsy5 tests
  • Pyruvate carboxylase deficiency8 tests
  • Pyruvate dehydrogenase E1-alpha deficiency7 tests
  • Pyruvate dehydrogenase E1-beta deficiency4 tests
  • Pyruvate dehydrogenase E2 deficiency4 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency4 tests
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency6 tests
  • Pyruvate dehydrogenase phosphatase deficiency3 tests
  • Pyruvate kinase deficiency of red cells3 tests
  • Quebec platelet disorder2 tests
  • Radial aplasia-thrombocytopenia syndrome8 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia2 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 22 tests
  • Rahman syndrome1 test
  • Rapadilino syndrome6 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome7 tests
  • RAS-associated autoimmune leukoproliferative disorder8 tests
  • Rasopathy1 test
  • Recessive dystrophic epidermolysis bullosa4 tests
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome5 tests
  • Regressive spondylometaphyseal dysplasia4 tests
  • Reis-Bucklers' corneal dystrophy2 tests
  • Renal carnitine transport defect8 tests
  • Renal cell carcinoma1 test
  • Renal cell carcinoma, nonpapillary7 tests
  • Renal cell carcinoma, papillary, 13 tests
  • Renal coloboma syndrome5 tests
  • Renal cysts and diabetes syndrome14 tests
  • Renal dysplasia and retinal aplasia2 tests
  • Renal hypodysplasia/aplasia 12 tests
  • Renal hypodysplasia/aplasia 22 tests
  • Renal hypodysplasia/aplasia 33 tests
  • Renal hypomagnesemia 23 tests
  • Renal hypouricemia 22 tests
  • Renal tubular acidosis1 test
  • Renal tubular acidosis with progressive nerve deafness4 tests
  • Renal tubular acidosis, distal, autosomal recessive3 tests
  • Renal tubular acidosis, distal, with hemolytic anemia3 tests
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation3 tests
  • Renal tubular dysgenesis9 tests
  • Renal-hepatic-pancreatic dysplasia 11 test
  • Renpenning syndrome 18 tests
  • Reticular dysgenesis2 tests
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal arteries, tortuosity of5 tests
  • Retinal cone dystrophy 3A5 tests
  • Retinal cone dystrophy 44 tests
  • Retinal detachment1 test
  • Retinal dystrophy and iris coloboma with or without congenital cataract2 tests
  • Retinal dystrophy and obesity2 tests
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities3 tests
  • Retinal dystrophy with or without extraocular anomalies3 tests
  • Retinal dystrophy with or without macular staphyloma1 test
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome3 tests
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome2 tests
  • Retinal macular dystrophy type 21 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations7 tests
  • Retinitis pigmentosa5 tests
  • Retinitis pigmentosa 16 tests
  • Retinitis pigmentosa 104 tests
  • Retinitis pigmentosa 115 tests
  • Retinitis pigmentosa 126 tests
  • Retinitis pigmentosa 135 tests
  • Retinitis pigmentosa 145 tests
  • Retinitis pigmentosa 155 tests
  • Retinitis pigmentosa 175 tests
  • Retinitis pigmentosa 184 tests
  • Retinitis pigmentosa 195 tests
  • Retinitis pigmentosa 24 tests
  • Retinitis pigmentosa 207 tests
  • Retinitis pigmentosa 234 tests
  • Retinitis pigmentosa 256 tests
  • Retinitis pigmentosa 266 tests
  • Retinitis pigmentosa 275 tests
  • Retinitis pigmentosa 284 tests
  • Retinitis pigmentosa 304 tests
  • Retinitis pigmentosa 314 tests
  • Retinitis pigmentosa 335 tests
  • Retinitis pigmentosa 355 tests
  • Retinitis pigmentosa 364 tests
  • Retinitis pigmentosa 376 tests
  • Retinitis pigmentosa 385 tests
  • Retinitis pigmentosa 395 tests
  • Retinitis pigmentosa 46 tests
  • Retinitis pigmentosa 406 tests
  • Retinitis pigmentosa 414 tests
  • Retinitis pigmentosa 424 tests
  • Retinitis pigmentosa 435 tests
  • Retinitis pigmentosa 443 tests
  • Retinitis pigmentosa 454 tests
  • Retinitis pigmentosa 463 tests
  • Retinitis pigmentosa 474 tests
  • Retinitis pigmentosa 485 tests
  • Retinitis pigmentosa 495 tests
  • Retinitis pigmentosa 509 tests
  • Retinitis pigmentosa 513 tests
  • Retinitis pigmentosa 544 tests
  • Retinitis pigmentosa 553 tests
  • Retinitis pigmentosa 565 tests
  • Retinitis pigmentosa 573 tests
  • Retinitis pigmentosa 584 tests
  • Retinitis pigmentosa 596 tests
  • Retinitis pigmentosa 604 tests
  • Retinitis pigmentosa 614 tests
  • Retinitis pigmentosa 623 tests
  • Retinitis pigmentosa 665 tests
  • Retinitis pigmentosa 671 test
  • Retinitis pigmentosa 684 tests
  • Retinitis pigmentosa 692 tests
  • Retinitis pigmentosa 76 tests
  • Retinitis pigmentosa 701 test
  • Retinitis pigmentosa 715 tests
  • Retinitis pigmentosa 722 tests
  • Retinitis pigmentosa 732 tests
  • Retinitis pigmentosa 742 tests
  • Retinitis pigmentosa 751 test
  • Retinitis pigmentosa 761 test
  • Retinitis pigmentosa 773 tests
  • Retinitis pigmentosa 781 test
  • Retinitis pigmentosa 801 test
  • Retinitis pigmentosa 811 test
  • Retinitis pigmentosa 82 with or without situs inversus3 tests
  • Retinitis pigmentosa 91 test
  • Retinitis pigmentosa and erythrocytic microcytosis2 tests
  • Retinitis pigmentosa with or without skeletal anomalies1 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness5 tests
  • Retinoblastoma4 tests
  • Rett syndrome9 tests
  • Rett syndrome, congenital variant9 tests
  • Revesz syndrome3 tests
  • Reynolds syndrome3 tests
  • Rh-null, regulator type1 test
  • Rhabdoid tumor predisposition syndrome 14 tests
  • Rhabdoid tumor predisposition syndrome 27 tests
  • Rhabdomyosarcoma, embryonal, 23 tests
  • Rheumatoid arthritis2 tests
  • Rhizomelic chondrodysplasia punctata type 17 tests
  • Rhizomelic chondrodysplasia punctata type 25 tests
  • Rhizomelic chondrodysplasia punctata type 34 tests
  • Rhizomelic chondrodysplasia punctata type 54 tests
  • Rhizomelic limb shortening with dysmorphic features1 test
  • RHYNS syndrome1 test
  • Rigidity and multifocal seizure syndrome, lethal neonatal2 tests
  • Ring dermoid of cornea6 tests
  • Rippling muscle disease2 tests
  • Rippling muscle disease 23 tests
  • Ritscher-Schinzel syndrome 12 tests
  • Ritscher-schinzel syndrome 21 test
  • Roberts-SC phocomelia syndrome12 tests
  • Robinow syndrome3 tests
  • Robinow syndrome, autosomal dominant 14 tests
  • Robinow syndrome, autosomal dominant 21 test
  • Robinow syndrome, autosomal dominant 31 test
  • Robinow syndrome, autosomal recessive8 tests
  • Robinow-Sorauf syndrome6 tests
  • Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2 tests
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome3 tests
  • Rothmund-Thomson syndrome5 tests
  • Rothmund-Thomson syndrome type 23 tests
  • Rotor syndrome4 tests
  • Rubinstein-Taybi syndrome8 tests
  • Rubinstein-Taybi syndrome 16 tests
  • Rubinstein-Taybi syndrome 29 tests
  • Ruijs-Aalfs syndrome1 test
  • Saethre-Chotzen syndrome12 tests
  • Saldino-Mainzer syndrome5 tests
  • Salla disease3 tests
  • Sandestig-stefanova syndrome1 test
  • Sandhoff disease3 tests
  • Sarcotubular myopathy2 tests
  • Scalp-ear-nipple syndrome3 tests
  • Scaphocephaly, maxillary retrusion, and mental retardation6 tests
  • Scapuloperoneal myopathy, X-linked dominant3 tests
  • Scapuloperoneal spinal muscular atrophy3 tests
  • Schaaf-Yang syndrome4 tests
  • Schimke immuno-osseous dysplasia3 tests
  • Schinzel phocomelia syndrome6 tests
  • Schinzel-Giedion syndrome7 tests
  • Schizencephaly4 tests
  • Schizophrenia3 tests
  • Schizophrenia 153 tests
  • Schizophrenia 172 tests
  • Schizophrenia 92 tests
  • Schnyder crystalline corneal dystrophy2 tests
  • Schopf-Schulz-Passarge syndrome2 tests
  • Schuurs-hoeijmakers syndrome5 tests
  • Schwannomatosis 14 tests
  • Schwannomatosis 24 tests
  • Schwartz-Jampel syndrome1 test
  • Sclerosing cholangitis, neonatal2 tests
  • Sclerosteosis 12 tests
  • Sclerosteosis 23 tests
  • SCOTT SYNDROME3 tests
  • Seckel syndrome1 test
  • Seckel syndrome 11 test
  • Seckel syndrome 24 tests
  • Seckel syndrome 41 test
  • Seckel syndrome 52 tests
  • Seckel syndrome 82 tests
  • Seckel syndrome 93 tests
  • Secondary hypothyroidism2 tests
  • Seizures1 test
  • Seizures, benign familial infantile, 25 tests
  • Seizures, benign familial infantile, 36 tests
  • Seizures, benign familial infantile, 53 tests
  • Seizures, cortical blindness, and microcephaly syndrome4 tests
  • Selective tooth agenesis 14 tests
  • Sengers syndrome7 tests
  • Senior-Loken syndrome 12 tests
  • Senior-Loken syndrome 43 tests
  • Senior-Loken syndrome 57 tests
  • Senior-Loken syndrome 69 tests
  • Senior-Loken syndrome 77 tests
  • Senior-Loken syndrome 82 tests
  • Senior-Loken syndrome 91 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis10 tests
  • Septo-optic dysplasia sequence9 tests
  • SERKAL syndrome2 tests
  • Severe achondroplasia with developmental delay and acanthosis nigricans7 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type5 tests
  • Severe combined immunodeficiency disease2 tests
  • Severe combined immunodeficiency due to ADA deficiency6 tests
  • Severe combined immunodeficiency due to CARMIL2 deficiency1 test
  • Severe combined immunodeficiency due to DCLRE1C deficiency3 tests
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive5 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive3 tests
  • Severe congenital neutropenia 2, autosomal dominant3 tests
  • Severe congenital neutropenia 4, autosomal recessive4 tests
  • Severe congenital neutropenia 5, autosomal recessive3 tests
  • Severe congenital neutropenia 6, autosomal recessive1 test
  • Severe myoclonic epilepsy in infancy9 tests
  • Severe neonatal-onset encephalopathy with microcephaly5 tests
  • Severe X-linked myotubular myopathy4 tests
  • Shaheen syndrome1 test
  • Shashi-Pena syndrome2 tests
  • Short QT syndrome 14 tests
  • Short QT syndrome 25 tests
  • Short QT syndrome 35 tests
  • Short rib-polydactyly syndrome, Majewski type7 tests
  • Short stature with microcephaly and distinctive facies2 tests
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities1 test
  • Short stature, brachydactyly, intellectual developmental disability, and seizures1 test
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies2 tests
  • Short stature, idiopathic, autosomal1 test
  • Short stature, idiopathic, X-linked1 test
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1 test
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly7 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome8 tests
  • SHORT syndrome3 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly8 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 13 with or without polydactyly4 tests
  • Short-rib thoracic dysplasia 14 with polydactyly4 tests
  • Short-rib thoracic dysplasia 15 with polydactyly2 tests
  • Short-rib thoracic dysplasia 16 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 17 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 18 with polydactyly2 tests
  • Short-rib thoracic dysplasia 19 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 20 with polydactyly3 tests
  • Short-rib thoracic dysplasia 3 with or without polydactyly9 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly10 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly6 tests
  • Shprintzen-Goldberg syndrome6 tests
  • Shwachman syndrome1 test
  • Shwachman-Diamond syndrome 13 tests
  • Shwachman-Diamond syndrome 21 test
  • Sialic acid storage disease, severe infantile type5 tests
  • Sialidosis type 23 tests
  • Sialuria4 tests
  • Sick sinus syndrome 1, autosomal recessive2 tests
  • Sick sinus syndrome 2, autosomal dominant4 tests
  • Sick sinus syndrome 3, susceptibility to2 tests
  • Sideroblastic anemia 3, pyridoxine-refractory3 tests
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay2 tests
  • Sifrim-Hitz-Weiss syndrome4 tests
  • Silver-Russell syndrome 31 test
  • Simpson-Golabi-Behmel syndrome type 113 tests
  • Simpson-Golabi-Behmel syndrome, type 26 tests
  • Singleton-Merten syndrome 12 tests
  • Sinoatrial node dysfunction and deafness1 test
  • Sitosterolemia6 tests
  • Sitosterolemia 12 tests
  • Sitosterolemia 22 tests
  • Sjögren-Larsson syndrome2 tests
  • Skin creases, congenital symmetric circumferential, 21 test
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome3 tests
  • Skin/hair/eye pigmentation, variation in, 12 tests
  • Skin/hair/eye pigmentation, variation in, 22 tests
  • Skin/hair/eye pigmentation, variation in, 33 tests
  • Skin/hair/eye pigmentation, variation in, 43 tests
  • Skin/hair/eye pigmentation, variation in, 71 test
  • Skraban-Deardorff syndrome1 test
  • SLC35A2-CDG5 tests
  • SLC39A8-CDG1 test
  • Smith-Kingsmore syndrome6 tests
  • Smith-Lemli-Opitz syndrome22 tests
  • Smith-Magenis syndrome7 tests
  • Smith-McCort dysplasia1 test
  • Smith-McCort dysplasia 11 test
  • Sneddon syndrome2 tests
  • Snijders Blok-Campeau syndrome2 tests
  • Snowflake vitreoretinal degeneration1 test
  • Solitary median maxillary central incisor syndrome7 tests
  • Somatotroph adenoma2 tests
  • Sorsby fundus dystrophy3 tests
  • Sotos syndrome1 test
  • Sotos syndrome 16 tests
  • Sotos syndrome 22 tests
  • Spastic ataxia 5, autosomal recessive3 tests
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2 tests
  • Spastic paraplegia 11, autosomal recessive6 tests
  • Spastic paraplegia 176 tests
  • Spastic paraplegia 28, autosomal recessive4 tests
  • Spastic paraplegia 30, autosomal recessive5 tests
  • Spastic paraplegia 31, autosomal dominant4 tests
  • Spastic paraplegia 33, autosomal dominant2 tests
  • Spastic paraplegia 355 tests
  • Spastic paraplegia 4, autosomal dominant6 tests
  • Spastic paraplegia 42, autosomal dominant6 tests
  • Spastic paraplegia 43, autosomal recessive3 tests
  • Spastic paraplegia 44, autosomal recessive2 tests
  • Spastic paraplegia 45, autosomal recessive3 tests
  • Spastic paraplegia 46, autosomal recessive3 tests
  • Spastic paraplegia 47, autosomal recessive3 tests
  • Spastic paraplegia 48, autosomal recessive4 tests
  • Spastic paraplegia 49, autosomal recessive3 tests
  • Spastic paraplegia 50, autosomal recessive5 tests
  • Spastic paraplegia 51, autosomal recessive3 tests
  • Spastic paraplegia 52, autosomal recessive3 tests
  • Spastic paraplegia 53, autosomal recessive3 tests
  • Spastic paraplegia 54, autosomal recessive4 tests
  • Spastic paraplegia 55, autosomal recessive3 tests
  • Spastic paraplegia 56, autosomal recessive5 tests
  • Spastic paraplegia 57, autosomal recessive3 tests
  • Spastic paraplegia 61, autosomal recessive3 tests
  • Spastic paraplegia 62, autosomal recessive3 tests
  • Spastic paraplegia 63, autosomal recessive3 tests
  • Spastic paraplegia 64, autosomal recessive3 tests
  • Spastic paraplegia 72, autosomal recessive3 tests
  • Spastic paraplegia 73, autosomal dominant3 tests
  • Spastic paraplegia 74, autosomal recessive4 tests
  • Spastic paraplegia 75, autosomal recessive3 tests
  • Spastic paraplegia 76, autosomal recessive4 tests
  • Spastic paraplegia 77, autosomal recessive4 tests
  • Spastic paraplegia 78, autosomal recessive4 tests
  • Spastic paraplegia 79, autosomal recessive4 tests
  • Spastic paraplegia 80, autosomal dominant2 tests
  • Spastic paraplegia 9b, autosomal recessive5 tests
  • Spastic paraplegia and psychomotor retardation with or without seizures5 tests
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity3 tests
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly1 test
  • Spasticity, childhood-onset, with hyperglycinemia3 tests
  • Specific granule deficiency 21 test
  • Speech-language disorder 11 test
  • Spermatogenic failure 102 tests
  • Spermatogenic failure 112 tests
  • Spermatogenic failure 122 tests
  • Spermatogenic failure 132 tests
  • Spermatogenic failure 142 tests
  • Spermatogenic failure 153 tests
  • Spermatogenic failure 162 tests
  • Spermatogenic failure 172 tests
  • Spermatogenic failure 181 test
  • Spermatogenic failure 192 tests
  • Spermatogenic failure 202 tests
  • Spermatogenic failure 212 tests
  • Spermatogenic failure 271 test
  • Spermatogenic failure 282 tests
  • Spermatogenic failure 32 tests
  • Spermatogenic failure 42 tests
  • Spermatogenic failure 432 tests
  • Spermatogenic failure 73 tests
  • Spermatogenic failure 85 tests
  • Spermatogenic failure, X-linked, 22 tests
  • Spermatogenic failure, Y-linked 21 test
  • Spermatogenic failure, Y-linked, 11 test
  • Spermatogenic failures 501 test
  • Spherocytosis type 13 tests
  • Spherocytosis type 23 tests
  • Spherocytosis type 33 tests
  • Spherocytosis type 43 tests
  • Spherocytosis type 53 tests
  • Spheroid body myopathy2 tests
  • Sphingolipid activator protein 1 deficiency6 tests
  • Spinal muscular atrophy with congenital bone fractures 13 tests
  • Spinal muscular atrophy with congenital bone fractures 21 test
  • Spinal muscular atrophy, distal, autosomal recessive, 12 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 53 tests
  • Spinal muscular atrophy, jokela type1 test
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant4 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant5 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spinal muscular atrophy, X-linked 21 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome3 tests
  • Spinocerebellar ataxia 351 test
  • Spinocerebellar ataxia 411 test
  • Spinocerebellar ataxia 461 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 142 tests
  • Spinocerebellar Ataxia Type 154 tests
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 23 tests
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 282 tests
  • Spinocerebellar ataxia type 294 tests
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 65 tests
  • Spinocerebellar ataxia, autosomal recessive 101 test
  • Spinocerebellar ataxia, autosomal recessive 124 tests
  • Spinocerebellar ataxia, autosomal recessive 141 test
  • Spinocerebellar ataxia, autosomal recessive 211 test
  • Spinocerebellar ataxia, autosomal recessive 251 test
  • Spinocerebellar ataxia, autosomal recessive 81 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 28 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
  • Splenomegaly1 test
  • Splenomegaly, cytopenia, and vision loss2 tests
  • Split-foot malformation with mesoaxial polydactyly3 tests
  • Split-hand/foot malformation 12 tests
  • Split-hand/foot malformation 1 with sensorineural hearing loss3 tests
  • Split-hand/foot malformation 45 tests
  • Split-hand/foot malformation 62 tests
  • Spondylocarpotarsal synostosis syndrome2 tests
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like2 tests
  • Spondylocostal dysostosis 1, autosomal recessive2 tests
  • Spondylocostal dysostosis 2, autosomal recessive3 tests
  • Spondylocostal dysostosis 3, autosomal recessive3 tests
  • Spondylocostal dysostosis 4, autosomal recessive3 tests
  • Spondylocostal dysostosis 53 tests
  • Spondylocostal dysostosis 6, autosomal recessive3 tests
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia Matrilin-3 related1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 21 test
  • Spondyloepimetaphyseal dysplasia, di rocco type1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia, pakistani type3 tests
  • Spondyloepimetaphyseal dysplasia, Strudwick type3 tests
  • Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy1 test
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita11 tests
  • Spondyloepiphyseal dysplasia Maroteaux type1 test
  • Spondyloepiphyseal dysplasia tarda1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations2 tests
  • Spondyloepiphyseal dysplasia, stanescu type9 tests
  • Spondylometaphyseal dysplasia8 tests
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome3 tests
  • Spondyloocular syndrome, autosomal recessive6 tests
  • Spondyloperipheral dysplasia-short ulna syndrome11 tests
  • Spongy degeneration of central nervous system5 tests
  • Squalene synthase deficiency4 tests
  • Stankiewicz-Isidor syndrome1 test
  • Stapes ankylosis with broad thumb and toes5 tests
  • Stargardt disease1 test
  • Stargardt disease 16 tests
  • Stargardt Disease 34 tests
  • Stargardt disease 44 tests
  • Stickler syndrome1 test
  • Stickler syndrome type 112 tests
  • Stickler syndrome type 210 tests
  • Stickler syndrome, type 47 tests
  • Stickler syndrome, type 57 tests
  • Stickler syndrome, type I, nonsyndromic ocular15 tests
  • Stiff skin syndrome10 tests
  • Stocco dos Santos syndrome2 tests
  • Stomatin-deficient cryohydrocytosis with neurologic defects4 tests
  • Stormorken syndrome4 tests
  • Striatal degeneration, autosomal dominant 11 test
  • Striatal degeneration, autosomal dominant 21 test
  • Striatal necrosis, bilateral, and progressive polyneuropathy1 test
  • Stroke 11 test
  • Stromme syndrome3 tests
  • Stuttering, familial persistent 11 test
  • Stuttering, familial persistent 24 tests
  • Stüve-Wiedemann syndrome1 test
  • Succinate-semialdehyde dehydrogenase deficiency3 tests
  • Succinyl-CoA acetoacetate transferase deficiency4 tests
  • Sucrase-isomaltase deficiency1 test
  • Sudden cardiac failure, alcohol-induced1 test
  • Sudden cardiac failure, infantile1 test
  • SUDDEN INFANT DEATH SYNDROME2 tests
  • Sudden infant death with dysgenesis of the testes syndrome3 tests
  • Supravalvar aortic stenosis6 tests
  • Surfactant metabolism dysfunction, pulmonary, 14 tests
  • Surfactant metabolism dysfunction, pulmonary, 24 tests
  • Surfactant metabolism dysfunction, pulmonary, 34 tests
  • Surfactant metabolism dysfunction, pulmonary, 52 tests
  • Susceptibility to hepatitis C virus2 tests
  • Susceptibility to malaria2 tests
  • Sveinsson chorioretinal atrophy1 test
  • Sweeney-Cox syndrome5 tests
  • Symphalangism, proximal, 1A4 tests
  • Symphalangism, proximal, 1B3 tests
  • Symphalangism-brachydactyly syndrome5 tests
  • Syndactyly type 33 tests
  • Syndactyly, type IV3 tests
  • Syndactyly, type V6 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome5 tests
  • Syndromic mental retardation, Nascimento type, X-linked3 tests
  • Syndromic microphthalmia type 59 tests
  • Syndromic X-linked intellectual disability Lubs type5 tests
  • Syndromic X-linked intellectual disability Siderius type2 tests
  • Syndromic X-linked intellectual disability Snyder type6 tests
  • Syndromic X-linked mental retardation, Cabezas type6 tests
  • Synpolydactyly 17 tests
  • Synpolydactyly 25 tests
  • Systemic lupus erythematosus3 tests
  • Systemic lupus erythematosus 92 tests
  • Tangier disease1 test
  • TARP syndrome2 tests
  • Tarsal-carpal coalition syndrome5 tests
  • Tatton-Brown-rahman syndrome4 tests
  • Tay-Sachs disease4 tests
  • Tay-Sachs disease, variant AB3 tests
  • Telangiectasia, hereditary hemorrhagic, type 24 tests
  • Telangiectasia, hereditary hemorrhagic, type 53 tests
  • Temple-Baraitser syndrome4 tests
  • Temtamy preaxial brachydactyly syndrome4 tests
  • Temtamy syndrome6 tests
  • Tenorio syndrome3 tests
  • Terminal osseous dysplasia11 tests
  • Testicular anomalies with or without congenital heart disease9 tests
  • Testosterone 17-beta-dehydrogenase deficiency7 tests
  • Tetraamelia syndrome 21 test
  • Tetraamelia, autosomal recessive1 test
  • Tetralogy of Fallot18 tests
  • Thanatophoric dysplasia type 112 tests
  • Thanatophoric dysplasia, type 212 tests
  • Thauvin-Robinet-Faivre syndrome1 test
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)5 tests
  • Thiel-Behnke corneal dystrophy2 tests
  • Three M syndrome 14 tests
  • Three M syndrome 31 test
  • Thrombocythemia 11 test
  • Thrombocythemia 32 tests
  • Thrombocytopenia 15 tests
  • Thrombocytopenia 29 tests
  • Thrombocytopenia 31 test
  • Thrombocytopenia 44 tests
  • Thrombocytopenia 56 tests
  • Thrombocytopenia, anemia, and myelofibrosis1 test
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis3 tests
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia3 tests
  • Thrombocytosis, benign familial microcytic2 tests
  • Thrombophilia due to factor V Leiden1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant2 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive2 tests
  • Thrombophilia due to thrombin defect2 tests
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive2 tests
  • Thromboxane synthetase deficiency2 tests
  • Thyroglobulin synthesis defect2 tests
  • Thyroid cancer, nonmedullary, 27 tests
  • Thyroid cancer, nonmedullary, 51 test
  • Thyroid dyshormonogenesis 12 tests
  • Thyroid dyshormonogenesis 63 tests
  • Thyroid hormone metabolism, abnormal2 tests
  • Thyroid hormone resistance syndrome1 test
  • Thyroid hormone resistance, generalized, autosomal dominant2 tests
  • Thyroid hormone resistance, generalized, autosomal recessive2 tests
  • Thyroid hormone resistance, selective pituitary2 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Tibia, hypoplasia or aplasia of, with polydactyly3 tests
  • Tibial muscular dystrophy3 tests
  • Tietz syndrome3 tests
  • Timothy syndrome11 tests
  • TMEM199-CDG1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)5 tests
  • Tooth agenesis, selective, 33 tests
  • Tooth agenesis, selective, 43 tests
  • Tooth agenesis, selective, 81 test
  • Tooth agenesis, selective, X-linked, 13 tests
  • Toriello-Lacassie-Droste syndrome6 tests
  • Torsion dystonia 62 tests
  • Townes-Brocks syndrome 111 tests
  • Townes-Brocks syndrome 21 test
  • Transcolabamin II deficiency4 tests
  • Transient bullous dermolysis of the newborn4 tests
  • Transient neonatal diabetes mellitus 12 tests
  • Transient neonatal diabetes mellitus 22 tests
  • Transient neonatal diabetes mellitus 31 test
  • Transposition of the great arteries, dextro-looped 14 tests
  • Transposition of the great arteries, dextro-looped 33 tests
  • Treacher Collins syndrome 16 tests
  • Treacher Collins syndrome 25 tests
  • Treacher Collins syndrome 35 tests
  • Tremor, hereditary essential, 51 test
  • Tricho-dento-osseous syndrome1 test
  • Trichohepatoenteric syndrome 13 tests
  • Trichohepatoenteric syndrome 21 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichorhinophalangeal syndrome, type III1 test
  • Trichothiodystrophy 1, photosensitive3 tests
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 5, nonphotosensitive2 tests
  • Triglyceride storage disease with ichthyosis3 tests
  • Trigonocephaly 18 tests
  • Trigonocephaly 24 tests
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency2 tests
  • Tropical calcific pancreatitis2 tests
  • Troyer syndrome4 tests
  • Tuberous sclerosis 113 tests
  • Tuberous sclerosis 214 tests
  • Tumor susceptibility linked to germline BAP1 mutations4 tests
  • Tumoral calcinosis, familial, normophosphatemic3 tests
  • Tumoral calcinosis, hyperphosphatemic, familial1 test
  • Turcot syndrome11 tests
  • Type 2 diabetes mellitus14 tests
  • Type D brachydactyly6 tests
  • Tyrosinase-positive oculocutaneous albinism4 tests
  • Tyrosinemia type 32 tests
  • Tyrosinemia type I4 tests
  • Tyrosinemia type II2 tests
  • UDPglucose-4-epimerase deficiency2 tests
  • Ullrich congenital muscular dystrophy 18 tests
  • Ullrich congenital muscular dystrophy 26 tests
  • Ulnar-mammary syndrome5 tests
  • Unverricht-Lundborg syndrome2 tests
  • Upshaw-Schulman syndrome4 tests
  • Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1 test
  • Urofacial syndrome 21 test
  • Usher syndrome type 14 tests
  • Usher syndrome type 1D5 tests
  • Usher syndrome type 1F4 tests
  • Usher syndrome, type 1C4 tests
  • Usher syndrome, type 1G4 tests
  • Usher syndrome, type 1J4 tests
  • Usher syndrome, type 1M1 test
  • Usher syndrome, type 2A4 tests
  • Usher syndrome, type 2C5 tests
  • Usher syndrome, type 2D4 tests
  • Usher syndrome, type 3B2 tests
  • Usher syndrome, type 42 tests
  • Usher Syndrome, Type III3 tests
  • UV-sensitive syndrome1 test
  • Uveal melanoma1 test
  • VACTERL association with hydrocephalus2 tests
  • VACTERL association, X-linked, with or without hydrocephalus4 tests
  • Van Buchem disease type 21 test
  • van der Woude syndrome 18 tests
  • Van der Woude syndrome 23 tests
  • Van Maldergem syndrome 13 tests
  • Van Maldergem syndrome 27 tests
  • Variegate porphyria4 tests
  • Vas deferens, congenital bilateral aplasia of, X-linked2 tests
  • Vascular malformation, primary intraosseous1 test
  • VATER association1 test
  • Velocardiofacial syndrome7 tests
  • Ventricular fibrillation, paroxysmal familial, 22 tests
  • Ventricular septal defect 17 tests
  • Ventricular septal defect 21 test
  • Ventricular septal defect 36 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 25 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 31 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 45 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness5 tests
  • Ventriculomegaly with cystic kidney disease3 tests
  • Verheij syndrome1 test
  • Vertebral, cardiac, renal, and limb defects syndrome 11 test
  • Vertebral, cardiac, renal, and limb defects syndrome 21 test
  • Vertebral, cardiac, renal, and limb defects syndrome 31 test
  • Very long chain acyl-CoA dehydrogenase deficiency6 tests
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Vesicoureteral reflux 83 tests
  • Vici syndrome7 tests
  • Visceral heterotaxy 5, autosomal6 tests
  • Visceral myopathy1 test
  • Vissers-Bodmer syndrome1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblA6 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblB4 tests
  • Vitamin d hydroxylation-deficient rickets, type 1b3 tests
  • Vitamin D-dependent rickets type 1A1 test
  • Vitamin D-dependent rickets type II with alopecia4 tests
  • Vitamin D-dependent rickets, type 12 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, 22 tests
  • Vitelliform macular dystrophy7 tests
  • Vitreoretinochoroidopathy6 tests
  • Vitreoretinopathy, neovascular inflammatory3 tests
  • Von Hippel-Lindau syndrome7 tests
  • von Willebrand disease type 13 tests
  • von Willebrand disease type 23 tests
  • von Willebrand disease type 33 tests
  • Waardenburg syndrome type 17 tests
  • Waardenburg syndrome type 2A5 tests
  • Waardenburg syndrome type 2D4 tests
  • Waardenburg syndrome type 2E6 tests
  • Waardenburg syndrome type 37 tests
  • Waardenburg syndrome type 4A6 tests
  • Waardenburg syndrome type 4B6 tests
  • Waardenburg syndrome type 4C5 tests
  • Wagner syndrome5 tests
  • Walker-Warburg congenital muscular dystrophy2 tests
  • Warburg micro syndrome 17 tests
  • Warburg micro syndrome 26 tests
  • Warburg micro syndrome 35 tests
  • Warburg micro syndrome 47 tests
  • Warfarin response1 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis3 tests
  • Weaver syndrome2 tests
  • Weill-Marchesani syndrome 13 tests
  • Weill-Marchesani syndrome 213 tests
  • Weill-Marchesani syndrome 35 tests
  • Weiss-kruszka syndrome1 test
  • Welander distal myopathy3 tests
  • Werdnig-Hoffmann disease1 test
  • Werner syndrome3 tests
  • White-sutton syndrome6 tests
  • Wieacker-Wolff syndrome3 tests
  • Wiedemann-Steiner syndrome9 tests
  • Williams syndrome1 test
  • Wilms tumor 117 tests
  • Wilms tumor 51 test
  • Wilms tumor 64 tests
  • Wilson disease4 tests
  • Wilson-Turner X-linked mental retardation syndrome3 tests
  • Winchester syndrome1 test
  • Wiskott-Aldrich syndrome7 tests
  • Wiskott-Aldrich syndrome 21 test
  • Witteveen-kolk syndrome2 tests
  • Wolcott-Rallison dysplasia1 test
  • Wolff-Parkinson-White pattern4 tests
  • Wolfram syndrome3 tests
  • Wolfram syndrome 16 tests
  • Wolfram syndrome 26 tests
  • Wolfram-like syndrome, autosomal dominant7 tests
  • Worth disease2 tests
  • Wrinkly skin syndrome7 tests
  • X-linked agammaglobulinemia6 tests
  • X-linked agammaglobulinemia with growth hormone deficiency3 tests
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked cone-rod dystrophy 34 tests
  • X-linked congenital hemolytic anemia1 test
  • X-linked dystonia-parkinsonism4 tests
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome1 test
  • X-linked hydrocephalus syndrome4 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked intellectual disability-hypotonic face syndrome9 tests
  • X-Linked Mental Retardation 411 test
  • X-Linked mental retardation 902 tests
  • X-linked mental retardation with marfanoid habitus syndrome13 tests
  • X-linked myopathy with excessive autophagy2 tests
  • X-linked recessive nephrolithiasis with renal failure3 tests
  • X-linked severe combined immunodeficiency6 tests
  • X-linked severe congenital neutropenia4 tests
  • X-linked sideroblastic anemia with ataxia2 tests
  • X-linked spondyloepimetaphyseal dysplasia3 tests
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum group A3 tests
  • Xeroderma pigmentosum variant type3 tests
  • Xeroderma pigmentosum, complementation group b3 tests
  • Xeroderma pigmentosum, group C3 tests
  • Xeroderma pigmentosum, group D3 tests
  • Xeroderma pigmentosum, group E3 tests
  • Xeroderma pigmentosum, group F6 tests
  • Xeroderma pigmentosum, group G3 tests
  • XFE progeroid syndrome6 tests
  • Xia-Gibbs syndrome4 tests
  • Yao syndrome1 test
  • Yunis-Varon syndrome7 tests
  • Zellweger syndrome11 tests
  • Zimmermann-Laband syndrome 14 tests
  • ZNF711-Related X-linked Mental Retardation1 test
  • Zonular pulverulent cataract 34 tests
  • ZTTK syndrome3 tests

List of services

  • Prenatal testing
  • Custom Sequence Analysis
  • Data Storage and Backup
  • Genetic counseling
  • Insurance billing
  • Result interpretation
  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: 100,200,300
  • Confirmation of research findings: Order Code: 100,200,300
  • Carrier testing: Order Code: 100,200,300
  • Mutation Confirmation: Order Code: 100,200,300
  • DNA Banking: Order Code: 500
  • Custom Deletion/Duplication Testing: Order Code: 600
  • Custom microarray analysis: Order Code: 600
  • Maternal cell contamination study (MCC): Order Code: 800

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 52D2065132, Expiration date: 2022-04-01
  • CAP, Number: 7185561, AU ID: 1407125, Expiration date: 2022-04-01
  • ISO15189, Number: 3950.01, Expiration date: 2022-05-31

Licenses

  • CA - California Department of Public Health CDPH, Number: COS 00800542, Expiration date: 2022-10-06
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1303, Effective date: 2018-10-08 Non-expiring
  • PA - Pennsylvania Department of Health PADOH, Number: 33884, Expiration date: 2022-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00694, Expiration date: 2021-12-30

Participation in external programs

Standardization programs

  • Locus-specific Databases

Data exchange Programs

  • Locus-specific Databases

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.

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