GTR Home > Laboratories > Intergen Genetic Diagnosis and Research Centre

Intergen Genetic Diagnosis and Research Centre

GTR Lab ID: 320129, Last updated:2021-05-20

Personnel

Conditions and tests

  • 16p11.2 deletion syndrome3 tests
  • 1q21.1 recurrent microdeletion2 tests
  • 2,4-Dienoyl-CoA reductase deficiency2 tests
  • 2-aminoadipic 2-oxoadipic aciduria2 tests
  • 2-hydroxyglutaric aciduria2 tests
  • 22q13.3 deletion syndrome2 tests
  • 2p15-16.1 microdeletion syndrome2 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency2 tests
  • 3-methylcrotonyl CoA carboxylase 2 deficiency2 tests
  • 3-Methylglutaconic aciduria type 12 tests
  • 3-Methylglutaconic aciduria type 22 tests
  • 3-Methylglutaconic aciduria type 32 tests
  • 3-methylglutaconic aciduria type V2 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia2 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
  • 3-methylglutaconic aciduria, type VIII2 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2 tests
  • 3MC syndrome 12 tests
  • 3MC syndrome 22 tests
  • 3MC syndrome 31 test
  • 3q29 microdeletion syndrome2 tests
  • 46,XX sex reversal, type 14 tests
  • 46,XX sex reversal, type 32 tests
  • 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy2 tests
  • 46,XY sex reversal 86 tests
  • 46,XY sex reversal 93 tests
  • 46,XY sex reversal, type 12 tests
  • 46,XY sex reversal, type 23 tests
  • 46,XY sex reversal, type 34 tests
  • 46,XY sex reversal, type 42 tests
  • 46,XY sex reversal, type 52 tests
  • 46,XY sex reversal, type 62 tests
  • 46,XY sex reversal, type 72 tests
  • 5-Oxoprolinase deficiency2 tests
  • 8q22.1 microdeletion syndrome1 test
  • Aarskog syndrome6 tests
  • ABCD syndrome4 tests
  • Abdominal obesity-metabolic syndrome 31 test
  • Abetalipoproteinaemia2 tests
  • Ablepharon macrostomia syndrome1 test
  • Abortive cerebellar ataxia8 tests
  • ABri amyloidosis1 test
  • Abruzzo-Erickson syndrome2 tests
  • Acatalasia2 tests
  • Accelerated tumor formation, susceptibility to2 tests
  • Acetyl-CoA acetyltransferase-2 deficiency2 tests
  • Acetyl-CoA: carboxylase deficiency2 tests
  • Acheiropodia3 tests
  • Achondrogenesis type II4 tests
  • Achondrogenesis, type IA2 tests
  • Achondrogenesis, type IB2 tests
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Achromatopsia 71 test
  • Acid phosphatase deficiency2 tests
  • Acid-labile subunit deficiency1 test
  • Acne inversa, familial, 21 test
  • Acne inversa, familial, 32 tests
  • Acquired hemoglobin H disease2 tests
  • Acquired partial lipodystrophy1 test
  • Acrocallosal syndrome4 tests
  • Acrocapitofemoral dysplasia2 tests
  • Acrocephalosyndactyly type I6 tests
  • Acrodysostosis 1 with or without hormone resistance3 tests
  • Acrodysostosis 2, with or without hormone resistance2 tests
  • Acroerythrokeratoderma1 test
  • Acrofacial dysostosis, Cincinnati type2 tests
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromelic frontonasal dysostosis2 tests
  • Acromesomelic dysplasia, Demirhan type2 tests
  • Acromesomelic dysplasia, Hunter-Thompson type2 tests
  • Acromesomelic dysplasia, Maroteaux type2 tests
  • Acromicric dysplasia4 tests
  • ACTH resistance1 test
  • Acth-independent macronodular adrenal hyperplasia 21 test
  • Acute alcohol sensitivity4 tests
  • Acute febrile mucocutaneous lymph node syndrome1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
  • Acute intermittent porphyria8 tests
  • Acute lymphoid leukemia7 tests
  • Acute myeloid leukemia27 tests
  • Acute promyelocytic leukemia2 tests
  • Acyl-CoA dehydrogenase family, member 9, deficiency of2 tests
  • Adams-Oliver syndrome 12 tests
  • Adams-Oliver syndrome 22 tests
  • Adams-Oliver syndrome 32 tests
  • Adams-Oliver syndrome 42 tests
  • Adams-Oliver syndrome 52 tests
  • Adams-Oliver syndrome 62 tests
  • ADan amyloidosis1 test
  • Adenine phosphoribosyltransferase deficiency3 tests
  • Adenosine kinase deficiency2 tests
  • Adenosine triphosphate, elevated, of erythrocytes2 tests
  • Adenylate kinase deficiency, hemolytic anemia due to2 tests
  • Adenylosuccinate lyase deficiency2 tests
  • Adermatoglyphia1 test
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete2 tests
  • Adrenocortical carcinoma, hereditary2 tests
  • Adrenocorticotropic hormone deficiency2 tests
  • Adrenoleukodystrophy4 tests
  • Adult hypophosphatasia3 tests
  • Adult neuronal ceroid lipofuscinosis4 tests
  • Adult polyglucosan body disease2 tests
  • Adult proximal spinal muscular atrophy, autosomal dominant2 tests
  • ADULT syndrome2 tests
  • Advanced sleep phase syndrome, familial, 21 test
  • Advanced sleep phase syndrome, familial, 31 test
  • Afibrinogenemia4 tests
  • Afibrinogenemia, congenital10 tests
  • Agammaglobulinemia 2, autosomal recessive2 tests
  • Agammaglobulinemia 3, autosomal recessive2 tests
  • Agammaglobulinemia 4, autosomal recessive2 tests
  • Agammaglobulinemia 5, autosomal dominant2 tests
  • Agammaglobulinemia 6, autosomal recessive2 tests
  • Agammaglobulinemia 7, autosomal recessive2 tests
  • Agammaglobulinemia 8, autosomal dominant2 tests
  • Age-related macular degeneration 16 tests
  • Age-related macular degeneration 111 test
  • Age-related macular degeneration 122 tests
  • Age-related macular degeneration 132 tests
  • Age-related macular degeneration 142 tests
  • Age-related macular degeneration 22 tests
  • Age-related macular degeneration 32 tests
  • Age-related macular degeneration 42 tests
  • Age-related macular degeneration 51 test
  • Age-related macular degeneration 61 test
  • Age-related macular degeneration 71 test
  • Age-related macular degeneration 81 test
  • Age-related macular degeneration 91 test
  • Agenesis of the corpus callosum with peripheral neuropathy2 tests
  • Agnathia-otocephaly complex2 tests
  • AICAR transformylase/IMP cyclohydrolase deficiency2 tests
  • Aicardi Goutieres syndrome 15 tests
  • Aicardi Goutieres syndrome 24 tests
  • Aicardi Goutieres syndrome 34 tests
  • Aicardi Goutieres syndrome 44 tests
  • Aicardi Goutieres syndrome 54 tests
  • Aicardi-Goutieres syndrome 62 tests
  • Aicardi-Goutieres syndrome 72 tests
  • Al-Raqad syndrome2 tests
  • Alacrima, achalasia, and mental retardation syndrome2 tests
  • Alagille syndrome 16 tests
  • Alagille syndrome 22 tests
  • Alazami syndrome2 tests
  • Alazami-Yuan syndrome2 tests
  • Albinism, ocular, with sensorineural deafness8 tests
  • Albinism, oculocutaneous, type VII1 test
  • Alcohol dependence6 tests
  • Alexander Disease2 tests
  • ALG1-CDG2 tests
  • ALG12-congenital disorder of glycosylation2 tests
  • ALG2-CDG2 tests
  • ALG3-CDG2 tests
  • ALG8-CDG2 tests
  • ALG9 congenital disorder of glycosylation3 tests
  • Allan-Herndon-Dudley syndrome2 tests
  • Allergic rhinitis1 test
  • Alopecia universalis congenita1 test
  • Alopecia, neurologic defects, and endocrinopathy syndrome2 tests
  • alpha Thalassemia8 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome4 tests
  • Alpha-1-antitrypsin deficiency6 tests
  • Alpha-2-macroglobulin deficiency2 tests
  • Alpha-2-plasmin inhibitor deficiency1 test
  • Alpha-B crystallinopathy2 tests
  • Alpha-fetoprotein deficiency2 tests
  • Alpha-methylacyl-CoA racemase deficiency2 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 14 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 22 tests
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
  • Alport syndrome 1, X-linked recessive4 tests
  • Alport syndrome 3, autosomal dominant4 tests
  • Alport syndrome, autosomal recessive10 tests
  • Alstrom syndrome2 tests
  • Alternating hemiplegia of childhood 12 tests
  • Alternating hemiplegia of childhood 24 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment4 tests
  • Alveolar rhabdomyosarcoma4 tests
  • Alveolar soft part sarcoma1 test
  • Alzheimer disease10 tests
  • Alzheimer disease 181 test
  • Alzheimer disease 21 test
  • Alzheimer disease, type 36 tests
  • Alzheimer disease, type 41 test
  • Alzheimer disease, type 91 test
  • Amelocerebrohypohidrotic syndrome2 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amelogenesis imperfecta, hypomaturation type IIA41 test
  • Amelogenesis imperfecta, hypomaturation type IIA51 test
  • Amelogenesis imperfecta, hypomaturation type IIA61 test
  • Amelogenesis imperfecta, hypomaturation type, IIA11 test
  • Amelogenesis imperfecta, hypomaturation type, IIA21 test
  • Amelogenesis imperfecta, hypomaturation type, IIA31 test
  • Amelogenesis imperfecta, type 1E1 test
  • Amelogenesis imperfecta, type IA2 tests
  • Amelogenesis imperfecta, type IC1 test
  • Amelogenesis imperfecta, type IF1 test
  • Amelogenesis imperfecta, type IH1 test
  • Amelogenesis imperfecta, type IJ1 test
  • Amelogenesis imperfecta, type IV1 test
  • Aminoacylase 1 deficiency2 tests
  • Aminoglycoside-induced deafness1 test
  • Amish lethal microcephaly3 tests
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis 16, juvenile1 test
  • Amyotrophic lateral sclerosis 171 test
  • Amyotrophic lateral sclerosis 181 test
  • Amyotrophic lateral sclerosis 191 test
  • Amyotrophic lateral sclerosis 201 test
  • Amyotrophic lateral sclerosis 211 test
  • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 11 test
  • Amyotrophic lateral sclerosis type 14 tests
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 121 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 42 tests
  • Amyotrophic lateral sclerosis type 52 tests
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
  • Analbuminemia2 tests
  • Anaphylotoxin inactivator deficiency2 tests
  • Anauxetic dysplasia 12 tests
  • Andersen Tawil syndrome4 tests
  • Androgen resistance syndrome4 tests
  • Anemia without thromobocytopenia, X-linked2 tests
  • Anemia, hypochromic microcytic, with iron overload 11 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
  • Anemia, sideroblastic, 12 tests
  • Anemia, sideroblastic, 2, pyridoxine-refractory2 tests
  • Anemia, sideroblastic, 42 tests
  • Angelman syndrome2 tests
  • Angioedema induced by ACE inhibitors, susceptibility to1 test
  • Angiomatoid fibrous histiocytoma1 test
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1 test
  • Anhaptoglobinemia2 tests
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome8 tests
  • Aniridia 14 tests
  • Aniridia 21 test
  • Aniridia 31 test
  • Ankylosing spondylitis1 test
  • Anonychia1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome6 tests
  • Anorexia nervosa 11 test
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 32 tests
  • Anterior segment dysgenesis 42 tests
  • Anterior segment dysgenesis 62 tests
  • Anterior segment dysgenesis 71 test
  • Anterior segment dysgenesis 81 test
  • Antithrombin III deficiency2 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis4 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
  • Anxiety1 test
  • Aortic aneurysm, familial thoracic 101 test
  • Aortic aneurysm, familial thoracic 11, susceptibility to1 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic aneurysm, familial thoracic 91 test
  • Aortic valve disease 11 test
  • Aortic valve disease 21 test
  • Aplasia cutis congenita2 tests
  • Aplastic anemia10 tests
  • Apolipoprotein C2 deficiency1 test
  • Apparent mineralocorticoid excess2 tests
  • Arboleda-Tham syndrome2 tests
  • Arginase deficiency2 tests
  • Arginine:glycine amidinotransferase deficiency2 tests
  • Argininosuccinate lyase deficiency2 tests
  • Aromatase deficiency2 tests
  • Aromatase excess syndrome2 tests
  • Arrhinia with choanal atresia and microphthalmia syndrome2 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 101 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 112 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 121 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 51 test
  • Arrhythmogenic right ventricular dysplasia 82 tests
  • Arrhythmogenic right ventricular dysplasia 92 tests
  • Arrhythmogenic right ventricular dysplasia, familial 11 test
  • Arrhythmogenic right ventricular dysplasia, familial, 131 test
  • Arrhythmogenic right ventricular dysplasia, familial, 21 test
  • Arterial calcification, generalized, of infancy, 13 tests
  • Arterial tortuosity syndrome2 tests
  • Arthrogryposis, distal, with impaired proprioception and touch2 tests
  • Arthrogryposis, mental retardation, and seizures2 tests
  • Arthrogryposis, perthes disease, and upward gaze palsy2 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 12 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 22 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome2 tests
  • Arts syndrome3 tests
  • Asparagine synthetase deficiency2 tests
  • Aspartate aminotransferase, serum level of, quantitative trait locus 12 tests
  • Aspartylglucosaminuria2 tests
  • Asperger syndrome X-linked 12 tests
  • Asperger syndrome X-linked 22 tests
  • Aspergillosis, susceptibility to2 tests
  • Asphyxiating thoracic dystrophy 22 tests
  • Asphyxiating thoracic dystrophy 42 tests
  • Asphyxiating thoracic dystrophy 52 tests
  • Asplenia, isolated congenital2 tests
  • Asthma, nasal polyps, and aspirin intolerance3 tests
  • Asthma, susceptibility to14 tests
  • Asthma-related traits, susceptibility to, 11 test
  • Asthma-related traits, susceptibility to, 21 test
  • Asthma-related traits, susceptibility to, 51 test
  • Asthma-related traits, susceptibility to, 71 test
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus1 test
  • Ataxia, sensory, autosomal dominant1 test
  • Ataxia, spastic, 1, autosomal dominant1 test
  • Ataxia, spastic, 2, autosomal recessive1 test
  • Ataxia, spastic, 3, autosomal recessive1 test
  • Ataxia, spastic, 4, autosomal recessive1 test
  • Ataxia-hypogonadism-choroidal dystrophy syndrome1 test
  • Ataxia-oculomotor apraxia 31 test
  • Ataxia-oculomotor apraxia 41 test
  • Ataxia-oculomotor apraxia type 12 tests
  • Ataxia-pancytopenia syndrome2 tests
  • Ataxia-telangiectasia syndrome7 tests
  • Ataxia-telangiectasia-like disorder 12 tests
  • Ataxia-telangiectasia-like disorder 22 tests
  • Ateleiotic dwarfism2 tests
  • Atelosteogenesis type 14 tests
  • Atelosteogenesis type II4 tests
  • Atelosteogenesis type III4 tests
  • Atransferrinemia2 tests
  • Atrial fibrillation, familial, 102 tests
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 141 test
  • Atrial fibrillation, familial, 151 test
  • Atrial fibrillation, familial, 181 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 92 tests
  • Atrial septal defect 22 tests
  • Atrial septal defect 31 test
  • Atrial septal defect 41 test
  • Atrial septal defect 51 test
  • Atrial septal defect 61 test
  • Atrial septal defect 7 with or without atrioventricular conduction defects2 tests
  • Atrial septal defect 81 test
  • Atrial septal defect 91 test
  • Atrial standstill 11 test
  • Atrial standstill 21 test
  • Atrichia with papular lesions1 test
  • Atrioventricular septal defect 24 tests
  • Atrioventricular septal defect 32 tests
  • Atrioventricular septal defect 42 tests
  • Atrioventricular septal defect 51 test
  • Atrophia bulborum hereditaria1 test
  • Attention deficit hyperactivity disorder4 tests
  • Attention deficit-hyperactivity disorder 71 test
  • Atypical hemolytic-uremic syndrome 110 tests
  • Atypical hemolytic-uremic syndrome 22 tests
  • Atypical hemolytic-uremic syndrome 32 tests
  • Atypical hemolytic-uremic syndrome 42 tests
  • Atypical hemolytic-uremic syndrome 52 tests
  • Atypical hemolytic-uremic syndrome 62 tests
  • Atypical mycobacteriosis, familial, X-linked 22 tests
  • AU-KLINE SYNDROME2 tests
  • Auditory neuropathy, autosomal dominant, 11 test
  • Aural atresia, congenital1 test
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 32 tests
  • Autism 154 tests
  • Autism 162 tests
  • Autism 172 tests
  • Autism, susceptibility to, 182 tests
  • Autism, susceptibility to, 192 tests
  • Autism, susceptibility to, X-linked 12 tests
  • Autism, susceptibility to, X-linked 24 tests
  • Autism, susceptibility to, X-linked 34 tests
  • Autism, susceptibility to, X-linked 42 tests
  • Autism, susceptibility to, X-linked 52 tests
  • Autism, susceptibility to, X-linked 62 tests
  • Autoimmune disease 11 test
  • Autoimmune disease 61 test
  • Autoimmune disease, multisystem, infantile-onset, 11 test
  • Autoimmune disease, multisystem, infantile-onset, 21 test
  • Autoimmune disease, syndromic multisystem1 test
  • Autoimmune interstitial lung, joint, and kidney disease2 tests
  • Autoimmune lymphoproliferative syndrome5 tests
  • Autoimmune lymphoproliferative syndrome type 2B2 tests
  • Autoimmune lymphoproliferative syndrome type V2 tests
  • Autoimmune lymphoproliferative syndrome, type 2A2 tests
  • Autoimmune lymphoproliferative syndrome, type III2 tests
  • Autoimmune thrombocytopenia1 test
  • Autoimmune thyroid disease 32 tests
  • Autoinflammation with arthritis and dyskeratosis2 tests
  • Autoinflammation with infantile enterocolitis1 test
  • Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated2 tests
  • Autoinflammation, panniculitis, and dermatosis syndrome1 test
  • Autoinflammatory syndrome, familial, Behcet-like1 test
  • Autosomal dominant distal renal tubular acidosis2 tests
  • Autosomal dominant hypophosphatemic rickets4 tests
  • Autosomal dominant isolated somatotropin deficiency2 tests
  • Autosomal dominant macrothrombocytopenia TUBB1-related1 test
  • Autosomal dominant medullary cystic kidney disease with hyperuricemia1 test
  • Autosomal dominant nonsyndromic deafness 172 tests
  • Autosomal dominant nonsyndromic deafness 221 test
  • Autosomal dominant nonsyndromic deafness 2A1 test
  • Autosomal dominant nonsyndromic deafness 62 tests
  • Autosomal dominant optic atrophy classic form2 tests
  • Autosomal dominant osteopetrosis 12 tests
  • Autosomal dominant osteopetrosis 22 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 24 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 34 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 44 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 54 tests
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant torsion dystonia 41 test
  • Autosomal recessive agammaglobulinemia 12 tests
  • Autosomal recessive axonal neuropathy with neuromyotonia2 tests
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 102 tests
  • Autosomal recessive congenital ichthyosis 22 tests
  • Autosomal recessive congenital ichthyosis 32 tests
  • Autosomal recessive congenital ichthyosis 4A2 tests
  • Autosomal recessive congenital ichthyosis 4B2 tests
  • Autosomal recessive congenital ichthyosis 52 tests
  • Autosomal recessive congenital ichthyosis 62 tests
  • Autosomal recessive congenital ichthyosis 82 tests
  • Autosomal recessive congenital ichthyosis 92 tests
  • Autosomal recessive cutis laxa type 1B2 tests
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive cutis laxa type 3B2 tests
  • Autosomal recessive cutis laxa type IA2 tests
  • Autosomal recessive DOPA responsive dystonia4 tests
  • Autosomal recessive hypophosphatemic bone disease1 test
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets1 test
  • Autosomal recessive Kenny-Caffey syndrome2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive multiple pterygium syndrome2 tests
  • Autosomal recessive omodysplasia2 tests
  • Autosomal recessive osteopetrosis 12 tests
  • Autosomal recessive osteopetrosis 22 tests
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 62 tests
  • Autosomal recessive osteopetrosis 72 tests
  • Autosomal recessive polycystic kidney disease5 tests
  • Autosomal recessive pseudohypoaldosteronism type 13 tests
  • Avascular necrosis of femoral head, primary, 12 tests
  • Avascular necrosis of femoral head, primary, 21 test
  • Avellino corneal dystrophy1 test
  • Axenfeld-Rieger syndrome type 14 tests
  • Axenfeld-Rieger syndrome type 34 tests
  • Ayme-gripp syndrome2 tests
  • Azorean disease2 tests
  • B-cell expansion with NFKB and T-cell anergy1 test
  • B4GALT1-CDG2 tests
  • Bacteremia, susceptibility to, 11 test
  • Bacteremia, susceptibility to, 21 test
  • Bailey-Bloch congenital myopathy1 test
  • Bainbridge-Ropers syndrome2 tests
  • Baller-Gerold syndrome2 tests
  • Bamforth-Lazarus syndrome4 tests
  • Band heterotopia2 tests
  • Baraitser-Winter syndrome 12 tests
  • Baraitser-Winter Syndrome 22 tests
  • Barber-Say syndrome2 tests
  • Bardet-Biedl syndrome 18 tests
  • Bardet-Biedl syndrome 102 tests
  • Bardet-Biedl syndrome 112 tests
  • Bardet-Biedl syndrome 122 tests
  • Bardet-Biedl syndrome 132 tests
  • Bardet-Biedl syndrome 146 tests
  • Bardet-Biedl syndrome 154 tests
  • Bardet-Biedl syndrome 162 tests
  • Bardet-Biedl syndrome 172 tests
  • Bardet-Biedl syndrome 192 tests
  • Bardet-Biedl syndrome 22 tests
  • Bardet-Biedl syndrome 202 tests
  • Bardet-Biedl syndrome 32 tests
  • Bardet-Biedl syndrome 42 tests
  • Bardet-Biedl syndrome 52 tests
  • Bardet-Biedl syndrome 72 tests
  • Bardet-Biedl syndrome 82 tests
  • Bardet-Biedl syndrome 92 tests
  • Bare lymphocyte syndrome 28 tests
  • Bare lymphocyte syndrome type 18 tests
  • Barrett esophagus3 tests
  • Bartsocas-Papas syndrome2 tests
  • Bartter disease type 4a3 tests
  • Bartter syndrome type 36 tests
  • Bartter syndrome, type 1, antenatal2 tests
  • Bartter syndrome, type 2, antenatal2 tests
  • Bartter syndrome, type 4b4 tests
  • Bartter syndrome, type 5, antenatal, transient2 tests
  • Basal cell carcinoma, susceptibility to, 14 tests
  • Basal cell carcinoma, susceptibility to, 73 tests
  • Basal ganglia calcification, idiopathic, 42 tests
  • Basal ganglia calcification, idiopathic, 62 tests
  • Basal laminar drusen2 tests
  • Basan syndrome2 tests
  • Beaded hair3 tests
  • Beare-Stevenson cutis gyrata syndrome2 tests
  • Beaulieu-Boycott-Innes syndrome2 tests
  • Becker muscular dystrophy6 tests
  • Beckwith-Wiedemann syndrome14 tests
  • Benign familial hematuria2 tests
  • Benign familial neonatal seizures 14 tests
  • Benign familial neonatal seizures 22 tests
  • Benign hereditary chorea2 tests
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • Bent bone dysplasia syndrome2 tests
  • Bernard Soulier syndrome4 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • Bestrophinopathy, autosomal recessive2 tests
  • beta Thalassemia8 tests
  • Beta-D-mannosidosis2 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency2 tests
  • Beta-thalassemia, dominant inclusion body type4 tests
  • Bethlem myopathy 14 tests
  • Bethlem myopathy 22 tests
  • Beukes hip dysplasia1 test
  • BH4-deficient hyperphenylalaninemia A2 tests
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifunctional peroxisomal enzyme deficiency2 tests
  • Bilateral right-sidedness sequence2 tests
  • Bile acid malabsorption, primary1 test
  • Bile acid synthesis defect, congenital, 32 tests
  • Bile acid synthesis defect, congenital, 52 tests
  • Bile acid synthesis defect, congenital, 62 tests
  • Biotin-responsive basal ganglia disease2 tests
  • Biotinidase deficiency2 tests
  • Birbeck granule deficiency1 test
  • Birk-Barel syndrome2 tests
  • Blau syndrome1 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type2 tests
  • Blepharophimosis, ptosis, and epicanthus inversus4 tests
  • Blepharospasm1 test
  • BLOOD GROUP--LUTHERAN INHIBITOR1 test
  • Bloom syndrome2 tests
  • BNAR syndrome2 tests
  • Body mass index quantitative trait locus 101 test
  • Body mass index quantitative trait locus 111 test
  • Body mass index quantitative trait locus 121 test
  • Body mass index quantitative trait locus 141 test
  • Body mass index quantitative trait locus 181 test
  • Body mass index quantitative trait locus 41 test
  • Body mass index quantitative trait locus 92 tests
  • Bohring-Opitz syndrome2 tests
  • Bombay phenotype1 test
  • Bone fragility with contractures, arterial rupture, and deafness2 tests
  • Bone marrow failure syndrome 12 tests
  • Bone marrow failure syndrome 22 tests
  • Bone marrow failure syndrome 32 tests
  • Bone mineral density quantitative trait locus 14 tests
  • Bone mineral density quantitative trait locus 161 test
  • Bone mineral density quantitative trait locus 181 test
  • Bone osteosarcoma2 tests
  • Boomerang dysplasia4 tests
  • Borjeson-Forssman-Lehmann syndrome2 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
  • Bothnia retinal dystrophy1 test
  • Bowen-Conradi syndrome2 tests
  • Brachydactyly type A11 test
  • Brachydactyly type A23 tests
  • Brachydactyly type B12 tests
  • Brachydactyly type B21 test
  • Brachydactyly type C1 test
  • Brachydactyly type D2 tests
  • Brachydactyly type E12 tests
  • Brachydactyly type E22 tests
  • Brachydactyly, type a1, c1 test
  • Brachydactyly, type a1, d1 test
  • Brachydactyly-arterial hypertension syndrome1 test
  • Brachydactyly-syndactyly syndrome5 tests
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia2 tests
  • Brain malformations and urinary tract defects2 tests
  • Brain small vessel disease 1 with or without ocular anomalies2 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency1 test
  • Branchiooculofacial syndrome2 tests
  • Branchiootic syndrome 18 tests
  • Branchiootic syndrome 32 tests
  • Branchiootorenal Syndrome 14 tests
  • Branchiootorenal syndrome 22 tests
  • Breast-ovarian cancer, familial 12 tests
  • Breast-ovarian cancer, familial 22 tests
  • Breast-ovarian cancer, familial 31 test
  • Breast-ovarian cancer, familial 41 test
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Brittle cornea syndrome 11 test
  • Brittle cornea syndrome 21 test
  • Brody myopathy2 tests
  • Bronchiectasis with or without elevated sweat chloride 14 tests
  • Bronchiectasis with or without elevated sweat chloride 21 test
  • Brooke-Spiegler syndrome2 tests
  • Brown-Vialetto-Van Laere syndrome 12 tests
  • Brown-Vialetto-Van Laere syndrome 22 tests
  • Bruck syndrome 12 tests
  • Bruck syndrome 22 tests
  • Brugada syndrome 12 tests
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 52 tests
  • Brugada syndrome 61 test
  • Brugada syndrome 72 tests
  • Brugada syndrome 81 test
  • Brugada syndrome 91 test
  • Brunner syndrome3 tests
  • Budd-Chiari syndrome4 tests
  • Bullous ichthyosiform erythroderma4 tests
  • Burkitt lymphoma1 test
  • Burn-McKeown syndrome2 tests
  • Buruli ulcer, susceptibility to1 test
  • C syndrome2 tests
  • C1q deficiency6 tests
  • C4a deficiency2 tests
  • Café-au-lait macules with pulmonary stenosis4 tests
  • Calcification of joints and arteries1 test
  • Calcium oxalate urolithiasis1 test
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome2 tests
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome4 tests
  • Camptomelic dysplasia12 tests
  • Camptosynpolydactyly, complex2 tests
  • Cancer of cervix1 test
  • Candidiasis, familial, 22 tests
  • Candidiasis, familial, 62 tests
  • Candidiasis, familial, 82 tests
  • Candidiasis, familial, 92 tests
  • Capillary malformation1 test
  • Capillary malformation-arteriovenous malformation 12 tests
  • Carbonic anhydrase VA deficiency, hyperammonemia due to2 tests
  • Carcinoid tumor of intestine2 tests
  • Carcinoma of pancreas3 tests
  • Cardiac arrhythmia, ankyrin B-related2 tests
  • Cardiac conduction disease with or without dilated cardiomyopathy1 test
  • Cardiac valvular dysplasia, X-linked2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 42 tests
  • Cardiofaciocutaneous syndrome 15 tests
  • Cardiofaciocutaneous syndrome 24 tests
  • Cardiofaciocutaneous syndrome 32 tests
  • Cardiofaciocutaneous syndrome 42 tests
  • Cardiomyopathy, dilated, 1NN1 test
  • Cardiomyopathy, dilated, 1u2 tests
  • Cardiomyopathy, dilated, 2b1 test
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis4 tests
  • Cardiomyopathy, familial hypertrophic, 262 tests
  • Carney complex variant2 tests
  • Carney complex, type 12 tests
  • Carney-Stratakis syndrome2 tests
  • Carnitine acylcarnitine translocase deficiency2 tests
  • Carnitine palmitoyltransferase 1A deficiency2 tests
  • Carnitine palmitoyltransferase II deficiency, infantile2 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal4 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced2 tests
  • Carotid intimal medial thickness 12 tests
  • Carpal tunnel syndrome1 test
  • Carpenter syndrome 12 tests
  • Carpenter syndrome 22 tests
  • Cataract 11 test
  • Cataract 111 test
  • Cataract 12, multiple types1 test
  • Cataract 13 with adult i phenotype1 test
  • Cataract 15, multiple types1 test
  • Cataract 16, multiple types1 test
  • Cataract 181 test
  • Cataract 19, multiple types1 test
  • Cataract 2, multiple types1 test
  • Cataract 20 multiple types1 test
  • Cataract 21, multiple types1 test
  • Cataract 23, multiple types1 test
  • Cataract 3, multiple types1 test
  • Cataract 301 test
  • Cataract 31 multiple types1 test
  • Cataract 33, multiple types1 test
  • Cataract 34, multiple types1 test
  • Cataract 39, multiple types1 test
  • Cataract 41 test
  • Cataract 401 test
  • Cataract 412 tests
  • Cataract 421 test
  • Cataract 431 test
  • Cataract 441 test
  • Cataract 451 test
  • Cataract 5 multiple types1 test
  • Cataract 6, multiple types1 test
  • Cataract Hutterite type1 test
  • Cataract, autosomal dominant1 test
  • Cataract, autosomal recessive congenital 41 test
  • Cataract, autosomal recessive congenital 51 test
  • Cataract, congenital nuclear, autosomal recessive 21 test
  • Cataract, congenital nuclear, autosomal recessive 31 test
  • Cataract, congenital zonular, with sutural opacities1 test
  • Cataract, juvenile, with microcornea and glucosuria1 test
  • Cataract-intellectual disability-hypogonadism syndrome2 tests
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia1 test
  • Catecholaminergic polymorphic ventricular tachycardia type 11 test
  • Catel Manzke syndrome2 tests
  • Caudal duplication anomaly2 tests
  • Caudal regression sequence3 tests
  • Cavitary optic disc anomalies1 test
  • CCDC115-CDG2 tests
  • CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy2 tests
  • Cd8 deficiency, familial2 tests
  • CEDNIK syndrome2 tests
  • Celiac disease 31 test
  • Celiac disease 41 test
  • Cenani-Lenz syndactyly syndrome2 tests
  • Central core myopathy8 tests
  • Cerebellar ataxia, Cayman type1 test
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant2 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 14 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 22 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 34 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42 tests
  • Cerebellar ataxia, nonprogressive, with mental retardation2 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome4 tests
  • Cerebellar atrophy, visual impairment, and psychomotor retardation2 tests
  • Cerebellofaciodental syndrome2 tests
  • Cerebral amyloid angiopathy, APP-related2 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
  • Cerebral arteriovenous malformation2 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 12 tests
  • Cerebral cavernous malformation3 tests
  • Cerebral cavernous malformations 21 test
  • Cerebral cavernous malformations 31 test
  • Cerebral folate transport deficiency2 tests
  • Cerebral palsy, spastic quadriplegic, 12 tests
  • Cerebral palsy, spastic quadriplegic, 22 tests
  • Cerebral palsy, spastic quadriplegic, 32 tests
  • Cerebro-costo-mandibular syndrome2 tests
  • Cerebrooculofacioskeletal syndrome 12 tests
  • Cerebrooculofacioskeletal syndrome 22 tests
  • Cerebrooculofacioskeletal syndrome 32 tests
  • Cerebrooculofacioskeletal syndrome 42 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 12 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 22 tests
  • Ceroid lipofuscinosis neuronal 22 tests
  • Ceroid lipofuscinosis, neuronal, 112 tests
  • Ceroid lipofuscinosis, neuronal, 132 tests
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant2 tests
  • CFHR5 deficiency2 tests
  • Char syndrome2 tests
  • Charcot-Marie-Tooth disease and deafness2 tests
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease axonal type 2F2 tests
  • Charcot-Marie-Tooth disease axonal type 2K3 tests
  • Charcot-Marie-Tooth disease dominant intermediate d2 tests
  • Charcot-Marie-Tooth disease type 2B2 tests
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J2 tests
  • Charcot-Marie-Tooth disease type 2P1 test
  • Charcot-Marie-Tooth disease, axonal type 2V1 test
  • Charcot-Marie-Tooth disease, axonal type 2X2 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2CC1 test
  • Charcot-Marie-Tooth disease, axonal, type 2O1 test
  • Charcot-Marie-Tooth disease, axonal, type 2Q1 test
  • Charcot-Marie-Tooth disease, axonal, type 2R1 test
  • Charcot-Marie-Tooth disease, axonal, type 2S2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2T1 test
  • Charcot-Marie-Tooth disease, axonal, type 2u1 test
  • Charcot-Marie-Tooth disease, axonal, type 2w1 test
  • Charcot-Marie-Tooth disease, axonal, type 2y1 test
  • Charcot-Marie-Tooth disease, axonal, type 2z1 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 4F2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate B2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate C1 test
  • Charcot-Marie-Tooth disease, dominant intermediate E1 test
  • Charcot-Marie-Tooth disease, dominant intermediate F1 test
  • Charcot-Marie-Tooth disease, recessive intermediate A2 tests
  • Charcot-Marie-Tooth disease, recessive intermediate B1 test
  • Charcot-Marie-Tooth disease, recessive intermediate c1 test
  • Charcot-Marie-Tooth disease, recessive intermediate d1 test
  • Charcot-Marie-Tooth disease, type 1C1 test
  • Charcot-Marie-Tooth disease, type 2A11 test
  • Charcot-Marie-Tooth disease, type 2A2A2 tests
  • Charcot-Marie-Tooth disease, type 2L1 test
  • Charcot-Marie-Tooth disease, type 2N1 test
  • Charcot-Marie-Tooth disease, type 4A2 tests
  • Charcot-Marie-Tooth disease, type 4B12 tests
  • Charcot-Marie-Tooth disease, type 4B22 tests
  • Charcot-Marie-Tooth disease, type 4B31 test
  • Charcot-Marie-Tooth disease, type 4C2 tests
  • Charcot-Marie-Tooth disease, type 4D1 test
  • Charcot-Marie-Tooth disease, type 4H1 test
  • Charcot-Marie-Tooth disease, type 4J1 test
  • Charcot-Marie-Tooth disease, type 4k1 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • Charcot-Marie-Tooth disease, X-linked dominant, 61 test
  • Charcot-Marie-Tooth disease, X-linked recessive, type 51 test
  • Charcot-Marie-Tooth Neuropathy X Type 12 tests
  • CHARGE association6 tests
  • Charlevoix-Saguenay spastic ataxia1 test
  • Chilblain lupus 12 tests
  • Chilblain lupus 22 tests
  • Child syndrome3 tests
  • Childhood hypophosphatasia2 tests
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1 test
  • CHIME syndrome3 tests
  • Chitayat syndrome2 tests
  • Chitotriosidase deficiency1 test
  • Choanal atresia and lymphedema2 tests
  • Cholestanol storage disease2 tests
  • Cholestasis, benign recurrent intrahepatic 11 test
  • Cholestasis, intrahepatic, of pregnancy 32 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, progressive familial intrahepatic 12 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Cholesterol monooxygenase (side-chain cleaving) deficiency2 tests
  • Chondrocalcinosis 22 tests
  • Chondrodysplasia Blomstrand type2 tests
  • Chondrodysplasia punctata 2 X-linked dominant2 tests
  • Chondrodysplasia with joint dislocations, GPAPP type2 tests
  • Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2 tests
  • Chondrosarcoma2 tests
  • Chops syndrome2 tests
  • Choreoacanthocytosis1 test
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress4 tests
  • Choroid plexus papilloma6 tests
  • Choroidal dystrophy, central areolar 23 tests
  • Choroideremia2 tests
  • Christianson syndrome2 tests
  • Chromosome 10q22.3-q23.2 deletion syndrome2 tests
  • Chromosome 10q26 deletion syndrome2 tests
  • Chromosome 13q14 deletion syndrome2 tests
  • Chromosome 14q11-q22 deletion syndrome1 test
  • Chromosome 15q11-q13 duplication syndrome2 tests
  • Chromosome 15q11.2 deletion syndrome2 tests
  • Chromosome 15q13.3 microdeletion syndrome2 tests
  • Chromosome 15q25 deletion syndrome2 tests
  • Chromosome 15q26-qter deletion syndrome2 tests
  • Chromosome 16-related alpha-thalassemia/mental retardation syndrome2 tests
  • Chromosome 16p11.2 deletion syndrome, 220 kb1 test
  • Chromosome 16p11.2 duplication syndrome3 tests
  • Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB2 tests
  • Chromosome 16p13.3 duplication syndrome2 tests
  • Chromosome 16q22 deletion syndrome2 tests
  • Chromosome 17p13.1 deletion syndrome2 tests
  • Chromosome 17p13.3, centromeric, duplication syndrome2 tests
  • Chromosome 17p13.3, telomeric, duplication syndrome3 tests
  • Chromosome 17q11.2 deletion syndrome, 1.4 MB2 tests
  • Chromosome 17q12 deletion syndrome2 tests
  • Chromosome 17q12 duplication syndrome2 tests
  • Chromosome 17q21.31 duplication syndrome2 tests
  • Chromosome 17q23.1-q23.2 deletion syndrome2 tests
  • Chromosome 17q23.1-q23.2 duplication syndrome2 tests
  • Chromosome 19p13.13 deletion syndrome3 tests
  • Chromosome 19q13.11 deletion syndrome2 tests
  • Chromosome 1p36 deletion syndrome2 tests
  • Chromosome 1q21.1 duplication syndrome2 tests
  • Chromosome 1q41-q42 deletion syndrome2 tests
  • Chromosome 22q11.2 deletion syndrome, distal2 tests
  • Chromosome 22q11.2 microduplication syndrome2 tests
  • Chromosome 22q13 duplication syndrome2 tests
  • Chromosome 2p12-p11.2 deletion syndrome2 tests
  • Chromosome 2q31.1 duplication syndrome2 tests
  • Chromosome 2q31.2 deletion syndrome2 tests
  • Chromosome 2q32-q33 deletion syndrome2 tests
  • Chromosome 2q37 deletion syndrome2 tests
  • Chromosome 3pter-p25 deletion syndrome2 tests
  • Chromosome 3q13.31 deletion syndrome2 tests
  • Chromosome 3q29 microduplication syndrome2 tests
  • Chromosome 4q21 deletion syndrome2 tests
  • Chromosome 4q32.1-q32.2 triplication syndrome2 tests
  • Chromosome 5p13 duplication syndrome2 tests
  • Chromosome 5q deletion syndrome2 tests
  • Chromosome 5q12 deletion syndrome2 tests
  • Chromosome 6pter-p24 deletion syndrome2 tests
  • Chromosome 6q11-q14 deletion syndrome2 tests
  • Chromosome 6q24-q25 deletion syndrome2 tests
  • Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb2 tests
  • Chromosome 8p11 myeloproliferative syndrome2 tests
  • Chromosome 8q21.11 deletion syndrome2 tests
  • Chromosome 9p deletion syndrome2 tests
  • Chromosome Xp11.23-p11.22 duplication syndrome2 tests
  • Chromosome Xp11.3 deletion syndrome2 tests
  • Chromosome Xp21 deletion syndrome2 tests
  • Chromosome Xq26.3 duplication syndrome2 tests
  • Chromosome Xq27.3-q28 duplication syndrome2 tests
  • Chromosome Xq28 deletion syndrome2 tests
  • Chromosome Xq28 duplication syndrome2 tests
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 12 tests
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 22 tests
  • Chronic granulomatous disease, X-linked3 tests
  • Chronic infantile neurological, cutaneous and articular syndrome2 tests
  • Chronic obstructive pulmonary disease6 tests
  • Chudley-McCullough syndrome2 tests
  • Chylomicron retention disease1 test
  • Chédiak-Higashi syndrome2 tests
  • Ciliary dyskinesia, primary, 101 test
  • Ciliary dyskinesia, primary, 111 test
  • Ciliary dyskinesia, primary, 121 test
  • Ciliary dyskinesia, primary, 131 test
  • Ciliary dyskinesia, primary, 141 test
  • Ciliary dyskinesia, primary, 151 test
  • Ciliary dyskinesia, primary, 161 test
  • Ciliary dyskinesia, primary, 171 test
  • Ciliary dyskinesia, primary, 181 test
  • Ciliary dyskinesia, primary, 191 test
  • Ciliary dyskinesia, primary, 21 test
  • Ciliary dyskinesia, primary, 201 test
  • Ciliary dyskinesia, primary, 211 test
  • Ciliary dyskinesia, primary, 221 test
  • Ciliary dyskinesia, primary, 261 test
  • Ciliary dyskinesia, primary, 271 test
  • Ciliary dyskinesia, primary, 281 test
  • Ciliary dyskinesia, primary, 291 test
  • Ciliary dyskinesia, primary, 32 tests
  • Ciliary dyskinesia, primary, 301 test
  • Ciliary dyskinesia, primary, 321 test
  • Ciliary dyskinesia, primary, 331 test
  • Ciliary dyskinesia, primary, 341 test
  • Ciliary dyskinesia, primary, 351 test
  • Ciliary dyskinesia, primary, 36, X-linked1 test
  • Ciliary dyskinesia, primary, 51 test
  • Ciliary dyskinesia, primary, 61 test
  • Ciliary dyskinesia, primary, 71 test
  • Ciliary dyskinesia, primary, 91 test
  • Citrullinemia type I2 tests
  • Citrullinemia type II2 tests
  • CK syndrome2 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency8 tests
  • Classic Hodgkin lymphoma1 test
  • Classic homocystinuria4 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome4 tests
  • Cleft palate with or without ankyloglossia, X-linked2 tests
  • Cleft palate, isolated2 tests
  • Cleft palate, psychomotor retardation, and distinctive facial features2 tests
  • Cleidocranial dysostosis4 tests
  • Clubfoot2 tests
  • Cobalamin C disease2 tests
  • Cockayne syndrome B2 tests
  • Cockayne syndrome type A2 tests
  • Cocoon syndrome2 tests
  • CODAS syndrome2 tests
  • Coenzyme Q10 deficiency, primary 12 tests
  • Coenzyme Q10 deficiency, primary, 22 tests
  • Coenzyme Q10 deficiency, primary, 32 tests
  • Coenzyme Q10 deficiency, primary, 42 tests
  • Coenzyme Q10 deficiency, primary, 52 tests
  • Coenzyme Q10 deficiency, primary, 62 tests
  • Coenzyme Q10 deficiency, primary, 72 tests
  • Coenzyme Q10 deficiency, primary, 82 tests
  • Coffin-Lowry syndrome4 tests
  • Coffin-Siris syndrome 14 tests
  • Coffin-Siris syndrome 52 tests
  • COG1 congenital disorder of glycosylation2 tests
  • COG7 congenital disorder of glycosylation2 tests
  • Cognitive impairment with or without cerebellar ataxia2 tests
  • Cohen syndrome4 tests
  • Colchicine resistance1 test
  • Cold-induced sweating syndrome 12 tests
  • Cold-induced sweating syndrome 22 tests
  • Cole disease1 test
  • Cole-Carpenter syndrome 12 tests
  • Cole-Carpenter syndrome 22 tests
  • Coloboma of optic nerve (disease)4 tests
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation3 tests
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness4 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
  • Colorectal cancer29 tests
  • Colorectal cancer 11 test
  • Colorectal cancer 102 tests
  • Colorectal cancer 31 test
  • Colorectal cancer, susceptibility to, 121 test
  • Combined cellular and humoral immune defects with granulomas4 tests
  • Combined deficiency of factor V and factor VIII, 12 tests
  • Combined deficiency of sialidase AND beta galactosidase2 tests
  • Combined immunodeficiency due to ORAI1 deficiency2 tests
  • Combined immunodeficiency due to STIM1 deficiency2 tests
  • Combined immunodeficiency due to ZAP70 deficiency2 tests
  • Combined immunodeficiency, X-linked2 tests
  • Combined malonic and methylmalonic aciduria2 tests
  • Combined oxidative phosphorylation deficiency 12 tests
  • Combined oxidative phosphorylation deficiency 102 tests
  • Combined oxidative phosphorylation deficiency 112 tests
  • Combined oxidative phosphorylation deficiency 122 tests
  • Combined oxidative phosphorylation deficiency 132 tests
  • Combined oxidative phosphorylation deficiency 142 tests
  • Combined oxidative phosphorylation deficiency 152 tests
  • Combined oxidative phosphorylation deficiency 162 tests
  • Combined oxidative phosphorylation deficiency 172 tests
  • Combined oxidative phosphorylation deficiency 182 tests
  • Combined oxidative phosphorylation deficiency 192 tests
  • Combined oxidative phosphorylation deficiency 22 tests
  • Combined oxidative phosphorylation deficiency 202 tests
  • Combined oxidative phosphorylation deficiency 212 tests
  • Combined oxidative phosphorylation deficiency 222 tests
  • Combined oxidative phosphorylation deficiency 232 tests
  • Combined oxidative phosphorylation deficiency 242 tests
  • Combined oxidative phosphorylation deficiency 252 tests
  • Combined oxidative phosphorylation deficiency 262 tests
  • Combined oxidative phosphorylation deficiency 272 tests
  • Combined oxidative phosphorylation deficiency 282 tests
  • Combined oxidative phosphorylation deficiency 292 tests
  • Combined oxidative phosphorylation deficiency 32 tests
  • Combined oxidative phosphorylation deficiency 302 tests
  • Combined oxidative phosphorylation deficiency 312 tests
  • Combined oxidative phosphorylation deficiency 42 tests
  • Combined oxidative phosphorylation deficiency 52 tests
  • Combined oxidative phosphorylation deficiency 62 tests
  • Combined oxidative phosphorylation deficiency 72 tests
  • Combined oxidative phosphorylation deficiency 82 tests
  • Combined oxidative phosphorylation deficiency 92 tests
  • Combined saposin deficiency2 tests
  • Common variable immunodeficiency 12 tests
  • Common variable immunodeficiency 102 tests
  • Common variable immunodeficiency 112 tests
  • Common variable immunodeficiency 22 tests
  • Common variable immunodeficiency 32 tests
  • Common variable immunodeficiency 42 tests
  • Common variable immunodeficiency 52 tests
  • Common variable immunodeficiency 62 tests
  • Common variable immunodeficiency 72 tests
  • Common variable immunodeficiency 8, with autoimmunity2 tests
  • Complement component 2 deficiency2 tests
  • Complement component 3 deficiency, autosomal recessive2 tests
  • Complement component 4, partial deficiency of4 tests
  • Complement component 4b deficiency2 tests
  • Complement component 5 deficiency2 tests
  • Complement component 6 deficiency4 tests
  • Complement component 7 deficiency2 tests
  • Complement component 9 deficiency2 tests
  • Complement component c1s deficiency2 tests
  • Complement factor B deficiency2 tests
  • Complement factor d deficiency2 tests
  • Complete trisomy 21 syndrome1 test
  • Conduction disorder of the heart1 test
  • Cone dystrophy 32 tests
  • Cone dystrophy 41 test
  • Cone dystrophy with supernormal rod response1 test
  • Cone monochromatism2 tests
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 132 tests
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 162 tests
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 22 tests
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 211 test
  • Cone-rod dystrophy 32 tests
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 62 tests
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy and hearing loss 11 test
  • Cone-rod dystrophy, X-linked 12 tests
  • Congenital absence of salivary gland2 tests
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital amegakaryocytic thrombocytopenia2 tests
  • Congenital anomalies of kidney and urinary tract 1, susceptibility to1 test
  • Congenital anomalies of kidney and urinary tract 22 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
  • Congenital bile acid synthesis defect 12 tests
  • Congenital bile acid synthesis defect 22 tests
  • Congenital bile acid synthesis defect 42 tests
  • Congenital brain dysgenesis due to glutamine synthetase deficiency2 tests
  • Congenital cataracts, hearing loss, and neurodegeneration2 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome2 tests
  • Congenital central hypoventilation24 tests
  • Congenital contractural arachnodactyly2 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay2 tests
  • Congenital defect of folate absorption1 test
  • Congenital disorder of deglycosylation2 tests
  • Congenital disorder of glycosylation type 1C2 tests
  • Congenital disorder of glycosylation type 1E2 tests
  • Congenital disorder of glycosylation type 1M2 tests
  • Congenital disorder of glycosylation type 1N2 tests
  • Congenital disorder of glycosylation type 1O2 tests
  • Congenital disorder of glycosylation type 1P2 tests
  • Congenital disorder of glycosylation type 1Q2 tests
  • Congenital disorder of glycosylation type 1t2 tests
  • Congenital disorder of glycosylation type 1u2 tests
  • Congenital disorder of glycosylation type 1w2 tests
  • Congenital disorder of glycosylation type 1x2 tests
  • Congenital disorder of glycosylation type 1y2 tests
  • Congenital disorder of glycosylation type 2B2 tests
  • Congenital disorder of glycosylation type 2F2 tests
  • Congenital disorder of glycosylation type 2H2 tests
  • Congenital disorder of glycosylation type 2i2 tests
  • Congenital disorder of glycosylation type 2J2 tests
  • Congenital disorder of glycosylation type 2k2 tests
  • Congenital disorder of glycosylation type 2L2 tests
  • Congenital disorder of glycosylation type Ir2 tests
  • Congenital disorder of glycosylation, type Ia2 tests
  • Congenital disorder of glycosylation, type Iaa2 tests
  • Congenital disorder of glycosylation, type IIa2 tests
  • Congenital dyserythropoietic anemia type type 1B2 tests
  • Congenital dyserythropoietic anemia, type I2 tests
  • Congenital dyserythropoietic anemia, type II3 tests
  • Congenital dyserythropoietic anemia, type IV2 tests
  • Congenital erythropoietic porphyria4 tests
  • Congenital generalized lipodystrophy type 12 tests
  • Congenital generalized lipodystrophy type 22 tests
  • Congenital glucose-galactose malabsorption2 tests
  • Congenital heart defects and ectodermal dysplasia2 tests
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2 tests
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly2 tests
  • Congenital heart defects, multiple types, 22 tests
  • Congenital heart defects, multiple types, 42 tests
  • Congenital hereditary endothelial dystrophy of the cornea1 test
  • Congenital hydrocephalus 12 tests
  • Congenital hyperammonemia, type I3 tests
  • Congenital hypomyelinating neuropathy 1, autosomal recessive8 tests
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital lactase deficiency2 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2 tests
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi3 tests
  • Congenital microvillous atrophy6 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B54 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A54 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A62 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A72 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B24 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B34 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B62 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B44 tests
  • Congenital muscular hypertrophy-cerebral syndrome2 tests
  • Congenital myasthenic syndrome 122 tests
  • Congenital myasthenic syndrome 132 tests
  • Congenital myasthenic syndrome 1B, fast-channel2 tests
  • Congenital myasthenic syndrome 3B2 tests
  • Congenital myasthenic syndrome 4C2 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive4 tests
  • Congenital myopathy with fiber type disproportion6 tests
  • Congenital myotonia, autosomal dominant form8 tests
  • Congenital myotonia, autosomal recessive form6 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency2 tests
  • Congenital primary aphakia1 test
  • Congenital secretory diarrhea, chloride type4 tests
  • Congenital secretory diarrhea, sodium type2 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital stationary night blindness, autosomal dominant 12 tests
  • Congenital stationary night blindness, autosomal dominant 21 test
  • Congenital stationary night blindness, autosomal dominant 31 test
  • Congenital stationary night blindness, type 1A1 test
  • Congenital stationary night blindness, type 1B1 test
  • Congenital stationary night blindness, type 1C1 test
  • Congenital stationary night blindness, type 1D1 test
  • Congenital stationary night blindness, type 1E1 test
  • Congenital stationary night blindness, type 1F1 test
  • Congenital stationary night blindness, type 2A1 test
  • Congenital stationary night blindness, type 2B1 test
  • Conotruncal heart malformations12 tests
  • Contractures, pterygia, and variable skeletal fusions syndrome 1A2 tests
  • Cornea plana 21 test
  • Corneal dystrophy, Fuchs endothelial 11 test
  • Corneal dystrophy, Fuchs endothelial, 31 test
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, Fuchs endothelial, 81 test
  • Corneal dystrophy, lattice type 3A1 test
  • Corneal dystrophy, posterior polymorphous, 21 test
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Corneal epithelial dystrophy1 test
  • Cornelia de Lange syndrome 14 tests
  • Cornelia de Lange syndrome 32 tests
  • Cornelia de Lange syndrome 42 tests
  • Cornelia de Lange syndrome 52 tests
  • Coronary artery disease, autosomal dominant 21 test
  • Coronary artery disease, autosomal dominant, 11 test
  • Coronary heart disease 12 tests
  • Coronary heart disease 51 test
  • Coronary heart disease 61 test
  • Coronary heart disease 71 test
  • Corpus callosum agenesis-abnormal genitalia syndrome6 tests
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia2 tests
  • Corpus callosum, partial agenesis of, X-linked2 tests
  • Cortical dysplasia, complex, with other brain malformations 12 tests
  • Cortical dysplasia, complex, with other brain malformations 22 tests
  • Cortical dysplasia, complex, with other brain malformations 32 tests
  • Cortical dysplasia, complex, with other brain malformations 52 tests
  • Cortical dysplasia, complex, with other brain malformations 64 tests
  • Cortical malformations, occipital2 tests
  • Corticosteroid-binding globulin deficiency1 test
  • Corticosterone 18-monooxygenase deficiency3 tests
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Cortisone reductase deficiency 11 test
  • Cortisone reductase deficiency 21 test
  • Costello syndrome8 tests
  • Cowden syndrome 16 tests
  • Cowden syndrome 41 test
  • Cowden syndrome 51 test
  • Cowden syndrome 61 test
  • Cowden syndrome 71 test
  • Coxa plana2 tests
  • Coxopodopatellar syndrome2 tests
  • Craniodiaphyseal dysplasia, autosomal dominant2 tests
  • Cranioectodermal dysplasia 12 tests
  • Cranioectodermal dysplasia 22 tests
  • Cranioectodermal dysplasia 32 tests
  • Cranioectodermal dysplasia 42 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome2 tests
  • Craniofacial-deafness-hand syndrome4 tests
  • Craniofrontonasal syndrome2 tests
  • Craniolenticulosutural dysplasia2 tests
  • Craniometaphyseal dysplasia, autosomal dominant1 test
  • Craniometaphyseal dysplasia, autosomal recessive1 test
  • Craniosynostosis 14 tests
  • Craniosynostosis 26 tests
  • Craniosynostosis 32 tests
  • Craniosynostosis 42 tests
  • Craniosynostosis 5, susceptibility to4 tests
  • Craniosynostosis 64 tests
  • Craniosynostosis and dental anomalies2 tests
  • Creatine transporter deficiency4 tests
  • Creutzfeldt-Jakob Disease, Familial4 tests
  • Crigler-Najjar syndrome type 12 tests
  • Crigler-Najjar syndrome, type II2 tests
  • Crouzon syndrome2 tests
  • Crouzon syndrome with acanthosis nigricans4 tests
  • Cryohydrocytosis1 test
  • Cryptorchidism1 test
  • Culler-Jones syndrome3 tests
  • Currarino triad2 tests
  • Curry-Hall syndrome8 tests
  • Curry-Jones syndrome2 tests
  • Cushing syndrome2 tests
  • Cutaneous malignant melanoma 11 test
  • Cutaneous malignant melanoma 22 tests
  • Cutaneous malignant melanoma 32 tests
  • Cutaneous malignant melanoma 51 test
  • Cutaneous malignant melanoma 61 test
  • Cutaneous malignant melanoma 82 tests
  • Cutaneous malignant melanoma 92 tests
  • Cutaneous telangiectasia and cancer syndrome, familial2 tests
  • Cutis laxa with osteodystrophy3 tests
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities2 tests
  • Cutis laxa, autosomal dominant 12 tests
  • Cutis laxa, autosomal dominant 22 tests
  • Cutis laxa, autosomal dominant 32 tests
  • Cutis laxa, autosomal recessive IIIA2 tests
  • Cutis laxa, X-linked4 tests
  • Cyanosis, transient neonatal1 test
  • Cyclical neutropenia2 tests
  • Cylindromatosis, familial2 tests
  • CYP2C19-related poor drug metabolism9 tests
  • Cystathioninuria2 tests
  • Cystic fibrosis14 tests
  • Cystinuria8 tests
  • Czech dysplasia, metatarsal type4 tests
  • D-2-hydroxyglutaric aciduria 14 tests
  • D-2-hydroxyglutaric aciduria 22 tests
  • D-Glyceric aciduria2 tests
  • Dalmatian hypouricemia1 test
  • Dandy-Walker syndrome2 tests
  • Danon disease2 tests
  • DE SANCTIS-CACCHIONE SYNDROME2 tests
  • Deafness and myopia1 test
  • Deafness dystonia syndrome2 tests
  • Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
  • Deafness, autosomal dominant 11 test
  • Deafness, autosomal dominant 101 test
  • Deafness, autosomal dominant 111 test
  • Deafness, autosomal dominant 121 test
  • Deafness, autosomal dominant 132 tests
  • Deafness, autosomal dominant 151 test
  • Deafness, autosomal dominant 201 test
  • Deafness, autosomal dominant 231 test
  • Deafness, autosomal dominant 251 test
  • Deafness, autosomal dominant 281 test
  • Deafness, autosomal dominant 2b2 tests
  • Deafness, autosomal dominant 361 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness, autosomal dominant 3a1 test
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal dominant 41 test
  • Deafness, autosomal dominant 401 test
  • Deafness, autosomal dominant 411 test
  • Deafness, autosomal dominant 441 test
  • Deafness, autosomal dominant 4b1 test
  • Deafness, autosomal dominant 51 test
  • Deafness, autosomal dominant 501 test
  • Deafness, autosomal dominant 511 test
  • Deafness, autosomal dominant 561 test
  • Deafness, autosomal dominant 641 test
  • Deafness, autosomal dominant 651 test
  • Deafness, autosomal dominant 661 test
  • Deafness, autosomal dominant 671 test
  • Deafness, autosomal dominant 681 test
  • Deafness, autosomal dominant 691 test
  • Deafness, autosomal dominant 701 test
  • Deafness, autosomal dominant 91 test
  • Deafness, autosomal recessive 1011 test
  • Deafness, autosomal recessive 1021 test
  • Deafness, autosomal recessive 1031 test
  • Deafness, autosomal recessive 1041 test
  • Deafness, autosomal recessive 122 tests
  • Deafness, autosomal recessive 151 test
  • Deafness, autosomal recessive 161 test
  • Deafness, autosomal recessive 181 test
  • Deafness, autosomal recessive 18b1 test
  • Deafness, autosomal recessive 1A4 tests
  • Deafness, autosomal recessive 1b1 test
  • Deafness, autosomal recessive 21 test
  • Deafness, autosomal recessive 211 test
  • Deafness, autosomal recessive 221 test
  • Deafness, autosomal recessive 232 tests
  • Deafness, autosomal recessive 241 test
  • Deafness, autosomal recessive 251 test
  • Deafness, autosomal recessive 281 test
  • Deafness, autosomal recessive 291 test
  • Deafness, autosomal recessive 31 test
  • Deafness, autosomal recessive 301 test
  • Deafness, autosomal recessive 311 test
  • Deafness, autosomal recessive 351 test
  • Deafness, autosomal recessive 36, with or without vestibular involvement2 tests
  • Deafness, autosomal recessive 371 test
  • Deafness, autosomal recessive 391 test
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct4 tests
  • Deafness, autosomal recessive 421 test
  • Deafness, autosomal recessive 441 test
  • Deafness, autosomal recessive 481 test
  • Deafness, autosomal recessive 491 test
  • Deafness, autosomal recessive 531 test
  • Deafness, autosomal recessive 591 test
  • Deafness, autosomal recessive 61 test
  • Deafness, autosomal recessive 611 test
  • Deafness, autosomal recessive 631 test
  • Deafness, autosomal recessive 661 test
  • Deafness, autosomal recessive 671 test
  • Deafness, autosomal recessive 681 test
  • Deafness, autosomal recessive 71 test
  • Deafness, autosomal recessive 701 test
  • Deafness, autosomal recessive 741 test
  • Deafness, autosomal recessive 761 test
  • Deafness, autosomal recessive 771 test
  • Deafness, autosomal recessive 791 test
  • Deafness, autosomal recessive 81 test
  • Deafness, autosomal recessive 841 test
  • Deafness, autosomal recessive 84b1 test
  • Deafness, autosomal recessive 861 test
  • Deafness, autosomal recessive 881 test
  • Deafness, autosomal recessive 891 test
  • Deafness, autosomal recessive 92 tests
  • Deafness, autosomal recessive 911 test
  • Deafness, autosomal recessive 931 test
  • Deafness, autosomal recessive 972 tests
  • Deafness, autosomal recessive 981 test
  • Deafness, congenital, with onychodystrophy, autosomal dominant1 test
  • Deafness, X-linked 11 test
  • Deafness, X-linked 21 test
  • Deafness, X-linked 61 test
  • Deafness-infertility syndrome1 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase2 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of alpha-mannosidase2 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase2 tests
  • Deficiency of beta-ureidopropionase2 tests
  • Deficiency of bisphosphoglycerate mutase1 test
  • Deficiency of butyryl-CoA dehydrogenase2 tests
  • Deficiency of cytochrome-b5 reductase4 tests
  • Deficiency of ferroxidase4 tests
  • Deficiency of galactokinase2 tests
  • Deficiency of glycerol kinase3 tests
  • Deficiency of guanidinoacetate methyltransferase2 tests
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of isobutyryl-CoA dehydrogenase2 tests
  • Deficiency of malonyl-CoA decarboxylase4 tests
  • Deficiency of phosphoserine phosphatase2 tests
  • Deficiency of pyrroline-5-carboxylate reductase2 tests
  • Deficiency of ribose-5-phosphate isomerase2 tests
  • Deficiency of steroid 11-beta-monooxygenase2 tests
  • Deficiency of steroid 17-alpha-monooxygenase10 tests
  • Deficiency of transaldolase2 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase4 tests
  • Dehydrated hereditary stomatocytosis 22 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
  • Dejerine-Sottas disease16 tests
  • Deletion of long arm of chromosome 182 tests
  • Deletion of short arm of chromosome 182 tests
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency4 tests
  • Dengue virus, susceptibility to2 tests
  • Dent disease type 12 tests
  • Dent disease type 22 tests
  • Dental anomalies and short stature1 test
  • Dentatorubral-pallidoluysian atrophy2 tests
  • Denticles1 test
  • Dentin dysplasia, type 11 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Dermatitis, atopic, 21 test
  • Dermatofibrosarcoma protuberans2 tests
  • Dermatofibrosis lenticularis disseminata4 tests
  • Dermatopathia pigmentosa reticularis2 tests
  • Desanto-shinawi syndrome2 tests
  • Desbuquois dysplasia 12 tests
  • Desbuquois dysplasia 22 tests
  • Desmoid disease, hereditary2 tests
  • Desmosterolosis1 test
  • Deuteranopia1 test
  • Developmental and epileptic encephalopathy 942 tests
  • Developmental delay with short stature, dysmorphic features, and sparse hair2 tests
  • Developmental malformations-deafness-dystonia syndrome1 test
  • Diabetes mellitus type 18 tests
  • Diabetes mellitus, insulin-dependent, 101 test
  • Diabetes mellitus, insulin-dependent, 121 test
  • Diabetes mellitus, insulin-dependent, 21 test
  • Diabetes mellitus, insulin-dependent, 202 tests
  • Diabetes mellitus, insulin-dependent, 51 test
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, neonatal, with congenital hypothyroidism2 tests
  • Diabetes mellitus, noninsulin-dependent, 11 test
  • Diabetes mellitus, noninsulin-dependent, 51 test
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis2 tests
  • Diamond-Blackfan anemia 14 tests
  • Diamond-Blackfan anemia 104 tests
  • Diamond-Blackfan anemia 112 tests
  • Diamond-Blackfan anemia 122 tests
  • Diamond-Blackfan anemia 132 tests
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 44 tests
  • Diamond-Blackfan anemia 54 tests
  • Diamond-Blackfan anemia 64 tests
  • Diamond-Blackfan anemia 74 tests
  • Diamond-Blackfan anemia 82 tests
  • Diamond-Blackfan anemia 92 tests
  • Diaphanospondylodysostosis2 tests
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia2 tests
  • Diaphyseal medullary stenosis-bone malignancy syndrome1 test
  • Diarrhea 4, malabsorptive, congenital2 tests
  • Diarrhea 5, with tufting enteropathy, congenital2 tests
  • Diarrhea 62 tests
  • Diarrhea 72 tests
  • Diarrhea 8, secretory sodium, congenital2 tests
  • Diastrophic dysplasia2 tests
  • Dicarboxylic aminoaciduria2 tests
  • DICER1-related pleuropulmonary blastoma cancer predisposition syndrome1 test
  • DiGeorge Syndrome3 tests
  • Digital arthropathy-brachydactyly, familial1 test
  • Digital clubbing, isolated congenital1 test
  • Dihydropteridine reductase deficiency2 tests
  • Dihydropyrimidinase deficiency2 tests
  • Dihydropyrimidine dehydrogenase deficiency7 tests
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1AA2 tests
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C3 tests
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E2 tests
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1HH2 tests
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK3 tests
  • Dilated cardiomyopathy 1L2 tests
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S4 tests
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X2 tests
  • Dilated cardiomyopathy 1Y2 tests
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 3B2 tests
  • Dilated cardiomyopathy with woolly hair and keratoderma4 tests
  • Dimethylglycine dehydrogenase deficiency2 tests
  • Disorder due cytochrome p450 CYP2D6 variant5 tests
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency2 tests
  • Distal arthrogryposis type 1A2 tests
  • Distal arthrogryposis type 1B2 tests
  • Distal arthrogryposis type 2B8 tests
  • Distal arthrogryposis type 5D2 tests
  • Distal hereditary motor neuronopathy 2D1 test
  • Distal hereditary motor neuronopathy type 2A1 test
  • Distal hereditary motor neuronopathy type 2B2 tests
  • Distal hereditary motor neuronopathy type 2C2 tests
  • Distal hereditary motor neuronopathy type 51 test
  • Distal hereditary motor neuronopathy type 5B4 tests
  • Distal hereditary motor neuronopathy type 7B1 test
  • Distal myopathy with rimmed vacuoles1 test
  • Distal myopathy, Tateyama type4 tests
  • Distal spinal muscular atrophy, autosomal recessive 22 tests
  • Distal spinal muscular atrophy, autosomal recessive 42 tests
  • Distal spinal muscular atrophy, X-linked 34 tests
  • Distichiasis-lymphedema syndrome4 tests
  • Dizygotic twins2 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin4 tests
  • Donnai-Barrow syndrome2 tests
  • DOORS syndrome2 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Dowling-Degos disease 16 tests
  • Dowling-Degos disease 22 tests
  • Dowling-degos disease 42 tests
  • Doyne honeycomb retinal dystrophy1 test
  • DPAGT1-CDG2 tests
  • Drash syndrome4 tests
  • Duane retraction syndrome 21 test
  • Duane retraction syndrome 3 with or without deafness1 test
  • Duane-radial ray syndrome4 tests
  • Dubin-Johnson syndrome2 tests
  • Duchenne muscular dystrophy4 tests
  • Dyggve-Melchior-Clausen syndrome2 tests
  • Dyschromatosis universalis hereditaria 31 test
  • Dysfibrinogenemia, congenital10 tests
  • Dyskeratosis congenita autosomal recessive 12 tests
  • Dyskeratosis congenita, autosomal dominant 12 tests
  • Dyskeratosis congenita, autosomal dominant 62 tests
  • Dyskeratosis congenita, autosomal dominant, 28 tests
  • Dyskeratosis congenita, autosomal dominant, 32 tests
  • Dyskeratosis congenita, autosomal recessive 22 tests
  • Dyskeratosis congenita, autosomal recessive 62 tests
  • Dyskeratosis congenita, autosomal recessive, 32 tests
  • Dyskeratosis congenita, autosomal recessive, 54 tests
  • Dyskeratosis congenita, X-linked4 tests
  • Dyskinesia, familial, with facial myokymia1 test
  • Dyskinesia, limb and orofacial, infantile-onset1 test
  • Dyskinesia, seizures, and intellectual developmental disorder2 tests
  • Dyslexia 11 test
  • Dyslexia 21 test
  • Dystonia 14 tests
  • Dystonia 122 tests
  • Dystonia 162 tests
  • Dystonia 231 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 26, myoclonic1 test
  • Dystonia 271 test
  • Dystonia 28, childhood-onset1 test
  • Dystonia 52 tests
  • Dystonia 92 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
  • Dystransthyretinemic euthyroidal hyperthyroxinemia1 test
  • Early infantile epileptic encephalopathy 102 tests
  • Early infantile epileptic encephalopathy 112 tests
  • Early infantile epileptic encephalopathy 122 tests
  • Early infantile epileptic encephalopathy 132 tests
  • Early infantile epileptic encephalopathy 142 tests
  • Early infantile epileptic encephalopathy 152 tests
  • Early infantile epileptic encephalopathy 162 tests
  • Early infantile epileptic encephalopathy 172 tests
  • Early infantile epileptic encephalopathy 182 tests
  • Early infantile epileptic encephalopathy 24 tests
  • Early infantile epileptic encephalopathy 212 tests
  • Early infantile epileptic encephalopathy 342 tests
  • Early infantile epileptic encephalopathy 44 tests
  • Early infantile epileptic encephalopathy 52 tests
  • Early infantile epileptic encephalopathy 74 tests
  • Early infantile epileptic encephalopathy 94 tests
  • Early myoclonic encephalopathy2 tests
  • EAST syndrome1 test
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant2 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal2 tests
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant3 tests
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type2 tests
  • Ectodermal dysplasia 13, hair/tooth type2 tests
  • Ectodermal dysplasia 4, hair/nail type2 tests
  • Ectodermal dysplasia 7, hair/nail type2 tests
  • Ectodermal dysplasia 9, hair/nail type2 tests
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Ectodermal dysplasia and immunodeficiency 22 tests
  • Ectodermal dysplasia-syndactyly syndrome 12 tests
  • Ectodermal dysplasia/short stature syndrome2 tests
  • Ectopia lentis et pupillae1 test
  • Ectopia lentis, isolated, autosomal dominant2 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32 tests
  • Eculizumab, poor response to1 test
  • EDICT syndrome2 tests
  • EEM syndrome2 tests
  • Efavirenz response5 tests
  • Ehlers-Danlos syndrome dermatosparaxis type1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
  • Ehlers-Danlos syndrome, arthrochalasia type, 14 tests
  • Ehlers-Danlos syndrome, cardiac valvular type2 tests
  • Ehlers-Danlos syndrome, classic type5 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, periodontal type, 11 test
  • Ehlers-Danlos syndrome, periodontal type, 21 test
  • Ehlers-Danlos syndrome, progeroid type, 21 test
  • Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Eichsfeld type congenital muscular dystrophy2 tests
  • Eiken syndrome1 test
  • Elevated serum creatine phosphokinase2 tests
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Ellis-van Creveld syndrome8 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
  • Encephalocraniocutaneous lipomatosis2 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 12 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 22 tests
  • Encephalopathy, acute, infection-induced, 3, suceptibility to2 tests
  • Encephalopathy, acute, infection-induced, 4, susceptibility to2 tests
  • Encephalopathy, familial, with neuroserpin inclusion bodies2 tests
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum2 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 12 tests
  • Encephalopathy, progressive, with amyotrophy and optic atrophy2 tests
  • Encephalopathy, progressive, with or without lipodystrophy2 tests
  • Endocrine-cerebroosteodysplasia2 tests
  • Endometrial carcinoma6 tests
  • Endplate acetylcholinesterase deficiency2 tests
  • Enhanced S-cone syndrome1 test
  • Enterokinase deficiency2 tests
  • Eosinophil peroxidase deficiency1 test
  • Epidermal nevus3 tests
  • Epidermal nevus syndrome5 tests
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 14 tests
  • Epidermolysis bullosa junctionalis with pyloric atresia3 tests
  • Epidermolysis bullosa pruriginosa4 tests
  • Epidermolysis bullosa simplex Dowling-Meara type8 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency1 test
  • Epidermolysis bullosa simplex with migratory circinate erythema4 tests
  • Epidermolysis bullosa simplex with mottled pigmentation2 tests
  • Epidermolysis bullosa simplex with muscular dystrophy2 tests
  • Epidermolysis bullosa simplex with nail dystrophy2 tests
  • Epidermolysis bullosa simplex with pyloric atresia2 tests
  • Epidermolysis bullosa simplex, autosomal recessive10 tests
  • Epidermolysis bullosa simplex, autosomal recessive 22 tests
  • Epidermolysis bullosa simplex, generalized, with scarring and hair loss2 tests
  • Epidermolysis bullosa simplex, Koebner type8 tests
  • Epidermolysis bullosa simplex, Ogna type2 tests
  • Epidermolysis bullosa, nonspecific, autosomal recessive3 tests
  • Epidermolytic palmoplantar keratoderma2 tests
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence 52 tests
  • Epilepsy, childhood absence 61 test
  • Epilepsy, early-onset, vitamin b6-dependent1 test
  • Epilepsy, familial adult myoclonic 21 test
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 31 test
  • Epilepsy, familial temporal lobe, 51 test
  • Epilepsy, familial temporal lobe, 71 test
  • Epilepsy, familial temporal lobe, 81 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation4 tests
  • Epilepsy, hearing loss, and mental retardation syndrome2 tests
  • Epilepsy, idiopathic generalized 103 tests
  • Epilepsy, idiopathic generalized 82 tests
  • Epilepsy, idiopathic generalized 91 test
  • Epilepsy, idiopathic generalized, susceptibility to, 113 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 122 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, juvenile absence, susceptibility to, 11 test
  • Epilepsy, juvenile myoclonic 52 tests
  • Epilepsy, nocturnal frontal lobe, 51 test
  • Epilepsy, nocturnal frontal lobe, type 12 tests
  • Epilepsy, nocturnal frontal lobe, type 32 tests
  • Epilepsy, nocturnal frontal lobe, type 41 test
  • Epilepsy, progressive myoclonic 32 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure2 tests
  • Epilepsy, progressive myoclonic 62 tests
  • Epilepsy, progressive myoclonic 72 tests
  • Epilepsy, progressive myoclonic 82 tests
  • Epilepsy, progressive myoclonic, 102 tests
  • Epilepsy, progressive myoclonic, 92 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders2 tests
  • Epileptic encephalopathy, early infantile, 14 tests
  • Epileptic encephalopathy, early infantile, 192 tests
  • Epileptic encephalopathy, early infantile, 232 tests
  • Epileptic encephalopathy, early infantile, 242 tests
  • Epileptic encephalopathy, early infantile, 252 tests
  • Epileptic encephalopathy, early infantile, 262 tests
  • Epileptic encephalopathy, early infantile, 274 tests
  • Epileptic encephalopathy, early infantile, 284 tests
  • Epileptic encephalopathy, early infantile, 292 tests
  • Epileptic encephalopathy, early infantile, 302 tests
  • Epileptic encephalopathy, early infantile, 312 tests
  • Epileptic encephalopathy, early infantile, 322 tests
  • Epileptic encephalopathy, early infantile, 332 tests
  • Epileptic encephalopathy, early infantile, 352 tests
  • Epileptic encephalopathy, early infantile, 364 tests
  • Epileptic encephalopathy, early infantile, 372 tests
  • Epileptic encephalopathy, early infantile, 382 tests
  • Epileptic encephalopathy, early infantile, 402 tests
  • Epileptic encephalopathy, early infantile, 412 tests
  • Epileptic encephalopathy, early infantile, 424 tests
  • Epileptic encephalopathy, early infantile, 431 test
  • Epileptic encephalopathy, early infantile, 442 tests
  • Epileptic encephalopathy, early infantile, 452 tests
  • Epileptic encephalopathy, early infantile, 462 tests
  • Epileptic encephalopathy, early infantile, 472 tests
  • Epileptic encephalopathy, early infantile, 482 tests
  • Epileptic encephalopathy, early infantile, 492 tests
  • Epileptic encephalopathy, early infantile, 502 tests
  • Epileptic encephalopathy, early infantile, 512 tests
  • Epileptic encephalopathy, early infantile, 522 tests
  • Epileptic encephalopathy, early infantile, 532 tests
  • Epileptic encephalopathy, early infantile, 542 tests
  • Epiphyseal chondrodysplasia, miura type2 tests
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness4 tests
  • Episodic ataxia type 12 tests
  • Episodic ataxia type 22 tests
  • Episodic ataxia, type 51 test
  • Episodic ataxia, type 61 test
  • Episodic kinesigenic dyskinesia 11 test
  • Episodic pain syndrome, familial, 21 test
  • Episodic pain syndrome, familial, 31 test
  • Epithelial recurrent erosion dystrophy1 test
  • Erythrocyte AMP deaminase deficiency1 test
  • Erythrocyte lactate transporter defect1 test
  • Erythrocytosis, familial, 22 tests
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige1 test
  • Erythroderma, ichthyosiform, congenital reticular1 test
  • Erythrokeratodermia variabilis et progressiva 16 tests
  • Essential hypertension10 tests
  • Essential pentosuria1 test
  • Estrogen resistance1 test
  • Ethylmalonic encephalopathy3 tests
  • Ewing sarcoma2 tests
  • Exercise intolerance, riboflavin-responsive1 test
  • Exercise-induced hyperinsulinism2 tests
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis2 tests
  • Extraskeletal myxoid chondrosarcoma2 tests
  • Exudative vitreoretinopathy 12 tests
  • Exudative vitreoretinopathy 42 tests
  • Exudative vitreoretinopathy 51 test
  • Exudative vitreoretinopathy 61 test
  • Fabry disease5 tests
  • Facial dysmorphism, immunodeficiency, livedo, and short stature2 tests
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs1 test
  • Facioscapulohumeral muscular dystrophy 21 test
  • Factor H deficiency4 tests
  • Factor v and factor viii, combined deficiency of, 21 test
  • Factor V deficiency2 tests
  • Factor VII deficiency1 test
  • Factor VIII deficiency1 test
  • Factor X deficiency2 tests
  • Factor XII deficiency disease2 tests
  • Factor XIII, A subunit, deficiency of1 test
  • Factor XIII, b subunit, deficiency of1 test
  • Failure of tooth eruption, primary1 test
  • Familial acne inversa 11 test
  • Familial adenomatous polyposis 17 tests
  • Familial adenomatous polyposis 31 test
  • Familial adenomatous polyposis 41 test
  • Familial advanced sleep phase syndrome 11 test
  • Familial amyloid nephropathy with urticaria AND deafness2 tests
  • Familial atrial myxoma1 test
  • Familial atypical mycobacteriosis, type 1, X-linked6 tests
  • Familial benign pemphigus1 test
  • Familial cancer of breast37 tests
  • Familial chronic mucocutaneous candidiasis2 tests
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial dysautonomia1 test
  • Familial episodic pain syndrome 11 test
  • Familial expansile osteolysis1 test
  • Familial exudative vitreoretinopathy, X-linked1 test
  • Familial hemiplegic migraine type 14 tests
  • Familial hemiplegic migraine type 21 test
  • Familial hemiplegic migraine type 32 tests
  • Familial hemophagocytic lymphohistiocytosis 24 tests
  • Familial hemophagocytic lymphohistiocytosis 34 tests
  • Familial hemophagocytic lymphohistiocytosis 44 tests
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia 112 tests
  • Familial hypercholesterolemia 21 test
  • Familial hypercholesterolemia 32 tests
  • Familial hypercholesterolemia 41 test
  • Familial hyperprolactinemia1 test
  • Familial hypertriglyceridemia2 tests
  • Familial hypertrophic cardiomyopathy 15 tests
  • Familial hypertrophic cardiomyopathy 101 test
  • Familial hypertrophic cardiomyopathy 111 test
  • Familial hypertrophic cardiomyopathy 121 test
  • Familial hypertrophic cardiomyopathy 131 test
  • Familial hypertrophic cardiomyopathy 141 test
  • Familial hypertrophic cardiomyopathy 151 test
  • Familial hypertrophic cardiomyopathy 161 test
  • Familial hypertrophic cardiomyopathy 171 test
  • Familial hypertrophic cardiomyopathy 181 test
  • Familial hypertrophic cardiomyopathy 22 tests
  • Familial hypertrophic cardiomyopathy 201 test
  • Familial hypertrophic cardiomyopathy 31 test
  • Familial hypertrophic cardiomyopathy 42 tests
  • Familial hypertrophic cardiomyopathy 61 test
  • Familial hypertrophic cardiomyopathy 71 test
  • Familial hypertrophic cardiomyopathy 81 test
  • Familial hypertrophic cardiomyopathy 91 test
  • Familial hypokalemia-hypomagnesemia4 tests
  • Familial infantile myasthenia2 tests
  • Familial isolated deficiency of vitamin E1 test
  • Familial isolated hypoparathyroidism3 tests
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial Mediterranean fever2 tests
  • Familial mediterranean fever, autosomal dominant2 tests
  • Familial medullary thyroid carcinoma3 tests
  • Familial multiple trichoepitheliomata1 test
  • Familial partial lipodystrophy 22 tests
  • Familial partial lipodystrophy 34 tests
  • Familial partial lipodystrophy 41 test
  • Familial partial lipodystrophy 51 test
  • Familial partial lipodystrophy 61 test
  • Familial platelet disorder with associated myeloid malignancy2 tests
  • Familial porphyria cutanea tarda12 tests
  • Familial progressive hyperpigmentation with or without hypopigmentation1 test
  • Familial renal glucosuria1 test
  • Familial restrictive cardiomyopathy 11 test
  • Familial restrictive cardiomyopathy 32 tests
  • Familial temporal lobe epilepsy 12 tests
  • Familial type 3 hyperlipoproteinemia2 tests
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial ventricular tachycardia2 tests
  • Familial visceral amyloidosis, Ostertag type4 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi anemia, complementation group A4 tests
  • Fanconi anemia, complementation group B4 tests
  • Fanconi anemia, complementation group C2 tests
  • Fanconi anemia, complementation group D12 tests
  • Fanconi anemia, complementation group D24 tests
  • Fanconi anemia, complementation group E2 tests
  • Fanconi anemia, complementation group F2 tests
  • Fanconi anemia, complementation group G2 tests
  • Fanconi anemia, complementation group I2 tests
  • Fanconi anemia, complementation group J4 tests
  • Fanconi anemia, complementation group L2 tests
  • Fanconi anemia, complementation group N4 tests
  • Fanconi anemia, complementation group O2 tests
  • Fanconi anemia, complementation group P2 tests
  • Fanconi anemia, complementation group Q2 tests
  • Fanconi anemia, complementation group R2 tests
  • Fanconi anemia, complementation group T2 tests
  • Fanconi anemia, complementation group U2 tests
  • Fanconi anemia, complementation group V2 tests
  • Fanconi renotubular syndrome 22 tests
  • Fanconi renotubular syndrome 32 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young4 tests
  • Fanconi-Bickel syndrome2 tests
  • Farber disease2 tests
  • Fasting plasma glucose level quantitative trait locus 51 test
  • Fatal familial insomnia1 test
  • Fatal infantile hypertonic myofibrillar myopathy2 tests
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 41 test
  • Feingold syndrome 22 tests
  • Fetal hemoglobin quantitative trait locus 120 tests
  • Fetal hemoglobin quantitative trait locus 62 tests
  • FG syndrome 12 tests
  • FG syndrome 24 tests
  • FG syndrome 48 tests
  • Fibrochondrogenesis 14 tests
  • Fibrochondrogenesis 22 tests
  • Fibrosis of extraocular muscles, congenital, 12 tests
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
  • Fibrosis of extraocular muscles, congenital, 51 test
  • Fibrous dysplasia of jaw1 test
  • Fibular hypoplasia and complex brachydactyly2 tests
  • Filippi syndrome2 tests
  • Finnish congenital nephrotic syndrome2 tests
  • Fish-eye disease2 tests
  • Fleck corneal dystrophy1 test
  • Fleck retina, familial benign1 test
  • Floating-Harbor syndrome2 tests
  • Focal dermal hypoplasia2 tests
  • Focal facial dermal dysplasia 3, Setleis type2 tests
  • Focal facial dermal dysplasia 42 tests
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 3, susceptibility to1 test
  • Focal segmental glomerulosclerosis 4, susceptibility to2 tests
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 71 test
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 91 test
  • Foveal hypoplasia 21 test
  • Foveal hypoplasia and presenile cataract syndrome2 tests
  • Fragile X syndrome4 tests
  • Fragile X tremor/ataxia syndrome2 tests
  • Frank-Ter Haar syndrome2 tests
  • Fraser syndrome 16 tests
  • Frasier syndrome4 tests
  • FRAXE2 tests
  • Freeman-Sheldon syndrome2 tests
  • Frias syndrome2 tests
  • Friedreich ataxia 14 tests
  • Frontometaphyseal dysplasia 13 tests
  • Frontometaphyseal dysplasia 22 tests
  • Frontonasal dysplasia 12 tests
  • Frontonasal dysplasia 24 tests
  • Frontonasal dysplasia 32 tests
  • Frontotemporal dementia4 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 32 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Fructose-biphosphatase deficiency4 tests
  • Fructosuria, essential1 test
  • Fucosidosis2 tests
  • Fucosyltransferase 6 deficiency2 tests
  • Fuhrmann syndrome2 tests
  • Fukuyama congenital muscular dystrophy4 tests
  • Fumarase deficiency4 tests
  • Galactosylceramide beta-galactosidase deficiency4 tests
  • Gallbladder disease 41 test
  • Galloway-Mowat syndrome 12 tests
  • Gamma-aminobutyric acid transaminase deficiency2 tests
  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to2 tests
  • GAPO syndrome2 tests
  • Gastric lymphoma1 test
  • Gastrointestinal stromal tumor6 tests
  • Gaucher disease type 3C4 tests
  • Gaucher disease type I4 tests
  • Gaucher disease type II4 tests
  • Gaucher disease type III4 tests
  • Gaucher disease, atypical, due to saposin C deficiency2 tests
  • Gaucher disease, perinatal lethal4 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 11 test
  • Geleophysic dysplasia 12 tests
  • Geleophysic dysplasia 24 tests
  • Generalized arterial calcification of infancy 24 tests
  • Generalized dominant dystrophic epidermolysis bullosa8 tests
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 24 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized juvenile polyposis/juvenile polyposis coli6 tests
  • Genitopatellar syndrome2 tests
  • Geroderma osteodysplastica2 tests
  • Gerstmann-Straussler-Scheinker syndrome3 tests
  • Ghosal hematodiaphyseal dysplasia2 tests
  • Giant axonal neuropathy 11 test
  • Giant axonal neuropathy 2, autosomal dominant1 test
  • Gilbert syndrome1 test
  • Gillespie syndrome2 tests
  • Gillessen-Kaesbach-Nishimura syndrome1 test
  • Gingival fibromatosis 11 test
  • Glanzmann thrombasthenia5 tests
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 1, open angle, O1 test
  • Glaucoma 3, primary congenital, A2 tests
  • Glaucoma 3, primary congenital, d1 test
  • Glaucoma 3, primary congenital, E1 test
  • Glaucoma, normal tension, susceptibility to3 tests
  • Glioma susceptibility 14 tests
  • Glioma susceptibility 22 tests
  • Glioma susceptibility 32 tests
  • Glioma susceptibility 91 test
  • Globozoospermia1 test
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria3 tests
  • Glomerulopathy with fibronectin deposits 21 test
  • Glomuvenous malformations1 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency1 test
  • Glucocorticoid deficiency with achalasia2 tests
  • Glucocorticoid resistance, generalized1 test
  • Glucocorticoid therapy, response to1 test
  • Glucose-6-phosphate transport defect2 tests
  • GLUT1 deficiency syndrome 14 tests
  • GLUT1 deficiency syndrome 24 tests
  • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY2 tests
  • Glutaric aciduria, type 12 tests
  • Glutaryl-CoA oxidase deficiency2 tests
  • Glutathione peroxidase deficiency2 tests
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
  • Gluthathione synthetase deficiency3 tests
  • Glycerol release during exercise, defective1 test
  • Glycine encephalopathy with normal serum glycine2 tests
  • Glycine N-methyltransferase deficiency2 tests
  • Glycogen storage disease 0, muscle2 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency2 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency2 tests
  • Glycogen storage disease IXb2 tests
  • Glycogen storage disease IXc4 tests
  • Glycogen storage disease IXd2 tests
  • Glycogen storage disease of heart, lethal congenital2 tests
  • Glycogen storage disease type III4 tests
  • Glycogen storage disease type IXa14 tests
  • Glycogen storage disease type X2 tests
  • Glycogen storage disease XI2 tests
  • Glycogen storage disease XV2 tests
  • Glycogen storage disease, type II4 tests
  • Glycogen storage disease, type IV2 tests
  • Glycogen storage disease, type V3 tests
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII2 tests
  • GM1 gangliosidosis type 22 tests
  • GM1 gangliosidosis type 32 tests
  • GM3 synthase deficiency1 test
  • Gnathodiaphyseal dysplasia4 tests
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors1 test
  • Goldberg-Shprintzen megacolon syndrome2 tests
  • Gonadotropin-independent familial sexual precocity2 tests
  • Gordon Holmes syndrome1 test
  • Gordon syndrome2 tests
  • Gorlin syndrome8 tests
  • GRACILE syndrome2 tests
  • Graft-versus-host disease, susceptibility to1 test
  • Grange syndrome2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III2 tests
  • Gray platelet syndrome2 tests
  • Grebe syndrome2 tests
  • Greenberg dysplasia2 tests
  • Greig cephalopolysyndactyly syndrome4 tests
  • Griscelli syndrome type 12 tests
  • Griscelli syndrome type 22 tests
  • Griscelli syndrome type 32 tests
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions3 tests
  • Groenouw corneal dystrophy type I1 test
  • Growth delay due to insulin-like growth factor I resistance1 test
  • Growth delay due to insulin-like growth factor type 1 deficiency2 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • Growth restriction, severe, with distinctive facies4 tests
  • Growth retardation, developmental delay, coarse facies, and early death2 tests
  • GTP cyclohydrolase I deficiency4 tests
  • Guillain-Barre syndrome, familial4 tests
  • Guttmacher syndrome3 tests
  • Haim-Munk syndrome2 tests
  • Hajdu-Cheney syndrome2 tests
  • Hamamy syndrome2 tests
  • Hamartoma of hypothalamus2 tests
  • Hand-foot-genital syndrome1 test
  • Hartsfield syndrome4 tests
  • Hashimoto thyroiditis1 test
  • Hawkinsinuria2 tests
  • Hay-Wells syndrome of ectodermal dysplasia2 tests
  • Hb SS disease4 tests
  • Heart-hand syndrome, Slovenian type4 tests
  • Hecht syndrome2 tests
  • Heimler syndrome 11 test
  • Heimler syndrome 21 test
  • Heinz body anemia14 tests
  • Helicobacter pylori infection, susceptibility to2 tests
  • Helsmoortel-Van der Aa Syndrome2 tests
  • Hemangioma, capillary infantile4 tests
  • Heme oxygenase 1 deficiency2 tests
  • Hemochromatosis type 13 tests
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 42 tests
  • Hemochromatosis type 51 test
  • Hemoglobin H disease4 tests
  • Hemolytic anemia due to hexokinase deficiency3 tests
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency2 tests
  • Hemophagocytic lymphohistiocytosis, familial, 52 tests
  • Hemorrhage, intracerebral, susceptibility to4 tests
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts2 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 12 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 23 tests
  • Heparin cofactor II deficiency1 test
  • Hepatic adenomas, familial1 test
  • Hepatic lipase deficiency1 test
  • Hepatic methionine adenosyltransferase deficiency4 tests
  • Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
  • Hepatitis b virus, susceptibility to3 tests
  • Hepatocellular carcinoma8 tests
  • Hereditary acrodermatitis enteropathica2 tests
  • Hereditary angioedema type 12 tests
  • Hereditary angioedema type 32 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary congenital facial paresis 31 test
  • Hereditary coproporphyria8 tests
  • Hereditary diffuse gastric cancer5 tests
  • Hereditary diffuse leukoencephalopathy with spheroids2 tests
  • Hereditary essential tremor 11 test
  • Hereditary factor IX deficiency disease4 tests
  • Hereditary factor VIII deficiency disease4 tests
  • Hereditary factor XI deficiency disease2 tests
  • Hereditary fructosuria4 tests
  • Hereditary hemorrhagic telangiectasia type 12 tests
  • Hereditary hyperferritinemia with congenital cataracts2 tests
  • Hereditary insensitivity to pain with anhidrosis2 tests
  • Hereditary leiomyomatosis and renal cell cancer2 tests
  • Hereditary liability to pressure palsies2 tests
  • Hereditary lymphedema type I2 tests
  • Hereditary mixed polyposis syndrome 12 tests
  • Hereditary mixed polyposis syndrome 22 tests
  • Hereditary motor and sensory neuropathy with optic atrophy2 tests
  • Hereditary motor and sensory neuropathy, Okinawa type1 test
  • Hereditary nonpolyposis colorectal cancer type 41 test
  • Hereditary nonpolyposis colorectal cancer type 51 test
  • Hereditary nonpolyposis colorectal cancer type 61 test
  • Hereditary nonpolyposis colorectal cancer type 74 tests
  • Hereditary nonpolyposis colorectal cancer type 81 test
  • Hereditary pancreatitis8 tests
  • Hereditary pyropoikilocytosis1 test
  • Hereditary sensory and autonomic neuropathy type 12 tests
  • Hereditary sensory and autonomic neuropathy type IC1 test
  • Hereditary sensory neuropathy type 1D1 test
  • Hereditary sensory neuropathy type IE1 test
  • Hereditary sensory neuropathy type IF1 test
  • Hereditary spastic paraplegia 101 test
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 152 tests
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 21 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 3A1 test
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 62 tests
  • Hereditary spastic paraplegia 72 tests
  • Hereditary spastic paraplegia 81 test
  • Hereditary spastic paraplegia 9A1 test
  • Hereditary xanthinuria type 12 tests
  • Hermansky-Pudlak syndrome 12 tests
  • Hermansky-Pudlak syndrome 102 tests
  • Hermansky-Pudlak syndrome 22 tests
  • Hermansky-Pudlak syndrome 32 tests
  • Hermansky-Pudlak syndrome 42 tests
  • Hermansky-Pudlak syndrome 52 tests
  • Hermansky-Pudlak syndrome 62 tests
  • Hermansky-Pudlak syndrome 72 tests
  • Hermansky-Pudlak syndrome 82 tests
  • Hermansky-Pudlak syndrome 92 tests
  • Herpes simplex encephalitis 12 tests
  • Herpes simplex encephalitis 22 tests
  • Herpes simplex encephalitis, susceptibility to, 32 tests
  • Herpes simplex encephalitis, susceptibility to, 42 tests
  • Herpes simplex encephalitis, susceptibility to, 72 tests
  • Heterotaxy, visceral, 1, X-linked8 tests
  • Heterotaxy, visceral, 2, autosomal2 tests
  • Heterotaxy, visceral, 4, autosomal4 tests
  • Heterotaxy, visceral, 6, autosomal2 tests
  • Heterotaxy, visceral, 7, autosomal2 tests
  • Heterotaxy, visceral, 8, autosomal2 tests
  • Heterotopia, periventricular, autosomal recessive2 tests
  • Hidrotic ectodermal dysplasia syndrome3 tests
  • High density lipoprotein cholesterol level quantitative trait locus 121 test
  • High density lipoprotein cholesterol level quantitative trait locus 61 test
  • High molecular weight kininogen deficiency2 tests
  • Hirschsprung disease 14 tests
  • Hirschsprung disease 24 tests
  • Hirschsprung disease 34 tests
  • Hirschsprung disease 44 tests
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction2 tests
  • Histidinemia1 test
  • Histiocytic medullary reticulosis10 tests
  • Histiocytosis-lymphadenopathy plus syndrome2 tests
  • HNSHA due to aldolase A deficiency2 tests
  • Holocarboxylase synthetase deficiency2 tests
  • Holoprosencephaly 112 tests
  • Holoprosencephaly 24 tests
  • Holoprosencephaly 34 tests
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 54 tests
  • Holoprosencephaly 74 tests
  • Holoprosencephaly 91 test
  • Holt-Oram syndrome2 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency6 tests
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type2 tests
  • Homozygous 11p15-p14 deletion syndrome2 tests
  • HSD10 disease4 tests
  • Human HOXA1 syndromes4 tests
  • Human immunodeficiency virus type 1, susceptibility to17 tests
  • Huntington disease1 test
  • Huntington disease-like 11 test
  • Huntington disease-like 21 test
  • Hurler syndrome4 tests
  • Hurthle cell carcinoma of thyroid1 test
  • Hutchinson-Gilford syndrome4 tests
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies2 tests
  • Hydrolethalus syndrome 12 tests
  • Hydrolethalus syndrome 22 tests
  • Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to2 tests
  • Hydrops, lactic acidosis, and sideroblastic anemia2 tests
  • Hydroxyacyl glutathione hydrolase deficiency1 test
  • Hydroxykynureninuria2 tests
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
  • Hyper-IgM syndrome type 12 tests
  • Hyper-IgM syndrome type 22 tests
  • Hyper-IgM syndrome type 32 tests
  • Hyper-IgM syndrome type 52 tests
  • Hyperaldosteronism, familial, type I1 test
  • Hyperaldosteronism, familial, type IV1 test
  • Hyperalphalipoproteinemia 13 tests
  • Hyperalphalipoproteinemia 21 test
  • Hyperammonemia, type III2 tests
  • Hyperbiliverdinemia2 tests
  • Hypercalcemia, infantile, 12 tests
  • Hypercalcemia, infantile, 22 tests
  • Hypercarotenemia and vitamin a deficiency, autosomal dominant2 tests
  • Hyperchlorhidrosis, isolated1 test
  • Hypercholanemia, familial3 tests
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency2 tests
  • Hyperglycinuria6 tests
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2 tests
  • Hyperinsulinemic hypoglycemia familial 52 tests
  • Hyperinsulinemic hypoglycemia, familial, 14 tests
  • Hyperinsulinemic hypoglycemia, familial, 22 tests
  • Hyperinsulinemic hypoglycemia, familial, 42 tests
  • Hyperinsulinism due to glucokinase deficiency4 tests
  • Hyperinsulinism-hyperammonemia syndrome2 tests
  • Hyperlipidemia, combined, 11 test
  • Hyperlipidemia, familial combined, LPL related2 tests
  • Hyperlipoproteinemia, type I3 tests
  • Hyperlipoproteinemia, type ID1 test
  • Hyperlysinemia2 tests
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency2 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2 tests
  • Hyperparathyroidism 12 tests
  • Hyperparathyroidism 24 tests
  • Hyperparathyroidism 41 test
  • Hyperphenylalaninemia, BH4-deficient, D2 tests
  • Hyperphenylalaninemia, mild, non-bh4-deficient2 tests
  • Hyperphosphatasemia tarda2 tests
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with mental retardation syndrome 12 tests
  • Hyperphosphatasia with mental retardation syndrome 22 tests
  • Hyperphosphatasia with mental retardation syndrome 32 tests
  • Hyperphosphatasia with mental retardation syndrome 42 tests
  • Hyperphosphatasia with mental retardation syndrome 52 tests
  • Hyperphosphatasia with mental retardation syndrome 62 tests
  • Hyperphosphatemic familial tumoral calcinosis 15 tests
  • Hyperproinsulinemia1 test
  • Hypertension, diastolic, resistance to1 test
  • Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy1 test
  • Hyperthyroidism, familial gestational2 tests
  • Hyperthyroidism, nonautoimmune2 tests
  • Hyperthyroxinemia, familial dysalbuminemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type2 tests
  • Hypertriglyceridemia, transient infantile1 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 13 tests
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis2 tests
  • Hyperuricemic nephropathy, familial juvenile, 21 test
  • Hyperuricemic nephropathy, familial juvenile, 41 test
  • Hypoalphalipoproteinemia, primary, 14 tests
  • Hypobetalipoproteinemia, familial, 11 test
  • Hypobetalipoproteinemia, familial, 21 test
  • Hypocalcemia, autosomal dominant 16 tests
  • Hypocalcemia, autosomal dominant 21 test
  • Hypocalciuric hypercalcemia, familial, type 14 tests
  • Hypocalciuric hypercalcemia, familial, type II1 test
  • Hypocalciuric hypercalcemia, familial, type III1 test
  • Hypochromic microcytic anemia with iron overload 21 test
  • Hypoglycemia, neonatal, simulating foetopathia diabetica1 test
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities2 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1 test
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 17 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 19 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 24 without anosmia1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia4 tests
  • Hypokalemic periodic paralysis 12 tests
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 4, renal1 test
  • Hypomagnesemia 5, renal, with ocular involvement1 test
  • Hypomagnesemia 6, renal1 test
  • Hypomagnesemia, seizures, and mental retardation 12 tests
  • Hypomyelinating leukodystrophy 32 tests
  • Hypomyelinating leukodystrophy 72 tests
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism2 tests
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity2 tests
  • Hypomyelination, global cerebral2 tests
  • Hypoparathyroidism, deafness, renal disease syndrome4 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome2 tests
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypophosphatemic rickets, X-linked recessive1 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome2 tests
  • Hypoplastic left heart syndrome 12 tests
  • Hypoplastic left heart syndrome 24 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration4 tests
  • Hypoproteinemia, hypercatabolic2 tests
  • Hypospadias 1, X-linked4 tests
  • Hypospadias 2, X-linked2 tests
  • Hypothalamic hypothyroidism1 test
  • Hypothyroidism, central, and testicular enlargement1 test
  • Hypothyroidism, congenital, nongoitrous, 12 tests
  • Hypothyroidism, congenital, nongoitrous, 22 tests
  • Hypothyroidism, congenital, nongoitrous, 52 tests
  • Hypothyroidism, congenital, nongoitrous, 61 test
  • Hypotonia, ataxia, and delayed development syndrome2 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
  • Hypotonia-cystinuria syndrome2 tests
  • Hypotrichosis 11 test
  • Hypotrichosis 111 test
  • Hypotrichosis 121 test
  • Hypotrichosis 131 test
  • Hypotrichosis 21 test
  • Hypotrichosis 31 test
  • Hypotrichosis 41 test
  • Hypotrichosis 61 test
  • Hypotrichosis 72 tests
  • Hypotrichosis 82 tests
  • Hypotrichosis and recurrent skin vesicles1 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome2 tests
  • Hystrix-like ichthyosis with deafness1 test
  • I blood group system1 test
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis hystrix of Curth-Macklin1 test
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis vulgaris2 tests
  • Ichthyosis, congenital, autosomal recessive 112 tests
  • Ichthyosis, congenital, autosomal recessive 122 tests
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis2 tests
  • Ichthyosis, spastic quadriplegia, and mental retardation2 tests
  • Idiopathic basal ganglia calcification 12 tests
  • Idiopathic basal ganglia calcification 52 tests
  • Idiopathic hypereosinophilic syndrome1 test
  • Idiopathic nephrotic syndrome2 tests
  • Idiopathic Pulmonary Fibrosis3 tests
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • IgA nephropathy, susceptibility to, 31 test
  • Ige responsiveness, atopic8 tests
  • IL21R immunodeficiency2 tests
  • Imerslund-Gräsbeck syndrome4 tests
  • Iminoglycinuria6 tests
  • Immunodeficiency 112 tests
  • Immunodeficiency 122 tests
  • Immunodeficiency 133 tests
  • Immunodeficiency 142 tests
  • Immunodeficiency 152 tests
  • Immunodeficiency 162 tests
  • Immunodeficiency 172 tests
  • Immunodeficiency 182 tests
  • Immunodeficiency 192 tests
  • Immunodeficiency 202 tests
  • Immunodeficiency 222 tests
  • Immunodeficiency 232 tests
  • Immunodeficiency 242 tests
  • Immunodeficiency 26 with or without neurologic abnormalities2 tests
  • Immunodeficiency 27A2 tests
  • Immunodeficiency 27b2 tests
  • Immunodeficiency 282 tests
  • Immunodeficiency 292 tests
  • Immunodeficiency 302 tests
  • Immunodeficiency 31a2 tests
  • Immunodeficiency 31C2 tests
  • Immunodeficiency 32a3 tests
  • Immunodeficiency 352 tests
  • Immunodeficiency 362 tests
  • Immunodeficiency 373 tests
  • Immunodeficiency 38 with basal ganglia calcification2 tests
  • Immunodeficiency 392 tests
  • Immunodeficiency 402 tests
  • Immunodeficiency 422 tests
  • Immunodeficiency 442 tests
  • Immunodeficiency 452 tests
  • Immunodeficiency 462 tests
  • Immunodeficiency 472 tests
  • Immunodeficiency 492 tests
  • Immunodeficiency 502 tests
  • Immunodeficiency 512 tests
  • Immunodeficiency 672 tests
  • Immunodeficiency 82 tests
  • Immunodeficiency due to defect in cd3-zeta2 tests
  • Immunodeficiency due to defect in mapbp-interacting protein2 tests
  • Immunodeficiency due to ficolin 3 deficiency2 tests
  • Immunodeficiency without anhidrotic ectodermal dysplasia4 tests
  • Immunodeficiency, common variable, 122 tests
  • Immunodeficiency, common variable, 132 tests
  • Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia2 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 14 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 22 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 32 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 42 tests
  • Immunoglobulin A deficiency 22 tests
  • Immunoglobulin kappa light chain deficiency2 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21 test
  • Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 31 test
  • Incontinentia pigmenti syndrome2 tests
  • Increased analgesia from kappa-opioid receptor agonist, female-specific1 test
  • Indifference to pain, congenital, autosomal recessive2 tests
  • Infantile cerebellar-retinal degeneration2 tests
  • Infantile convulsions and choreoathetosis1 test
  • Infantile cortical hyperostosis2 tests
  • Infantile GM1 gangliosidosis2 tests
  • Infantile hypophosphatasia2 tests
  • Infantile liver failure syndrome 12 tests
  • Infantile liver failure syndrome 22 tests
  • Infantile myofibromatosis 11 test
  • Infantile myofibromatosis 22 tests
  • Infantile nephronophthisis2 tests
  • Infantile neuroaxonal dystrophy4 tests
  • Infantile nystagmus, X-linked4 tests
  • Infantile onset spinocerebellar ataxia4 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations2 tests
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Inflammatory bowel disease 12 tests
  • Inflammatory bowel disease 101 test
  • Inflammatory bowel disease 131 test
  • Inflammatory bowel disease 141 test
  • Inflammatory bowel disease 171 test
  • Inflammatory bowel disease 191 test
  • Inflammatory bowel disease 25, autosomal recessive1 test
  • Inflammatory bowel disease 28, autosomal recessive1 test
  • Inflammatory skin and bowel disease, neonatal 11 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Influenza, severe, susceptibility to1 test
  • Inosine triphosphatase deficiency1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder with dysmorphic facies and ptosis2 tests
  • Intellectual developmental disorder with persistence of fetal hemoglobin2 tests
  • Intellectual disability, autosomal dominant 92 tests
  • Intellectual disability, X-linked 212 tests
  • Intellectual disability-cataracts-calcified pinnae-myopathy syndrome2 tests
  • Interleukin 2 receptor, alpha, deficiency of2 tests
  • Interleukin 6, serum level of, quantitative trait locus1 test
  • Interstitial lung and liver disease1 test
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital2 tests
  • Interstitial nephritis, karyomegalic1 test
  • Intervertebral disc disorder3 tests
  • Intestinal pseudo-obstruction2 tests
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked6 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies4 tests
  • Intrinsic factor deficiency1 test
  • Invasive pneumococcal disease, recurrent isolated, 13 tests
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect1 test
  • Irido-corneo-trabecular dysgenesis4 tests
  • Ischemic stroke, susceptibility to6 tests
  • Isolated growth hormone deficiency type IB4 tests
  • Isolated lutropin deficiency1 test
  • Isolated sulfite oxidase deficiency2 tests
  • Isovaleryl-CoA dehydrogenase deficiency2 tests
  • Jackson-Weiss syndrome6 tests
  • Jalili syndrome2 tests
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Johanson-Blizzard syndrome2 tests
  • Joubert syndrome 12 tests
  • Joubert syndrome 102 tests
  • Joubert syndrome 132 tests
  • Joubert syndrome 142 tests
  • Joubert syndrome 152 tests
  • Joubert syndrome 162 tests
  • Joubert syndrome 172 tests
  • Joubert syndrome 182 tests
  • Joubert syndrome 22 tests
  • Joubert syndrome 202 tests
  • Joubert syndrome 212 tests
  • Joubert syndrome 222 tests
  • Joubert syndrome 232 tests
  • Joubert syndrome 242 tests
  • Joubert syndrome 252 tests
  • Joubert syndrome 262 tests
  • Joubert syndrome 272 tests
  • Joubert syndrome 282 tests
  • Joubert syndrome 32 tests
  • Joubert syndrome 44 tests
  • Joubert syndrome 54 tests
  • Joubert syndrome 62 tests
  • Joubert syndrome 72 tests
  • Joubert syndrome 82 tests
  • Joubert syndrome 92 tests
  • Joubert syndrome with hepatic defect6 tests
  • Junctional epidermolysis bullosa gravis of Herlitz12 tests
  • Junctional epidermolysis bullosa, non-Herlitz type18 tests
  • Juvenile myelomonocytic leukemia6 tests
  • Juvenile myoclonic epilepsy2 tests
  • Juvenile nephropathic cystinosis4 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
  • Juvenile primary lateral sclerosis1 test
  • Juvenile retinoschisis1 test
  • Kabuki syndrome 14 tests
  • Kabuki syndrome 24 tests
  • Kahrizi syndrome2 tests
  • Kallikrein, decreased urinary activity of1 test
  • Kallmann syndrome 31 test
  • Kaposi sarcoma1 test
  • Kartagener syndrome2 tests
  • Kaufman oculocerebrofacial syndrome2 tests
  • KBG syndrome2 tests
  • Kennedy disease1 test
  • Kenny-Caffey syndrome type 22 tests
  • Keppen-Lubinsky syndrome2 tests
  • Keratitis, hereditary2 tests
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
  • Keratoconus 11 test
  • Keratosis follicularis2 tests
  • Keratosis follicularis spinulosa decalvans, X-linked2 tests
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma1 test
  • Keratosis palmoplantaris striata 31 test
  • Keratosis palmoplantaris striata II2 tests
  • Keutel syndrome2 tests
  • Kindler syndrome1 test
  • Kleefstra syndrome 12 tests
  • Klippel-Feil syndrome 1, autosomal dominant2 tests
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-Feil syndrome 3, autosomal dominant2 tests
  • Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism2 tests
  • Kniest dysplasia4 tests
  • Knobloch syndrome 12 tests
  • KNOPS BLOOD GROUP SYSTEM3 tests
  • Knuckle pads, deafness AND leukonychia syndrome2 tests
  • Koolen-de Vries syndrome2 tests
  • Kosaki overgrowth syndrome1 test
  • Kostmann syndrome2 tests
  • Krabbe disease, atypical, due to saposin A deficiency2 tests
  • Kufor-Rakeb syndrome1 test
  • Kugelberg-Welander disease8 tests
  • Kuru, susceptibility to1 test
  • L-2-hydroxyglutaric aciduria4 tests
  • L-ferritin deficiency1 test
  • Lacrimal duct defect1 test
  • Lactate dehydrogenase B deficiency1 test
  • Lafora disease8 tests
  • Lamb-shaffer syndrome2 tests
  • Langer mesomelic dysplasia syndrome4 tests
  • Langer-Giedion syndrome2 tests
  • Large congenital melanocytic nevus2 tests
  • Laron-type isolated somatotropin defect3 tests
  • Larsen syndrome4 tests
  • Laryngo-onycho-cutaneous syndrome4 tests
  • Late-onset retinal degeneration1 test
  • Lateral meningocele syndrome4 tests
  • Lathosterolosis2 tests
  • Lattice corneal dystrophy Type I1 test
  • Lattice corneal dystrophy Type III1 test
  • Laurence-Moon syndrome2 tests
  • Laurin-Sandrow syndrome2 tests
  • LCAT deficiency2 tests
  • Leber congenital amaurosis 12 tests
  • Leber congenital amaurosis 102 tests
  • Leber congenital amaurosis 112 tests
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 132 tests
  • Leber congenital amaurosis 143 tests
  • Leber congenital amaurosis 151 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 171 test
  • Leber congenital amaurosis 22 tests
  • Leber congenital amaurosis 32 tests
  • Leber congenital amaurosis 46 tests
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 62 tests
  • Leber congenital amaurosis 72 tests
  • Leber congenital amaurosis 82 tests
  • Leber congenital amaurosis 91 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 104 tests
  • Left ventricular noncompaction 64 tests
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 82 tests
  • Legionnaire disease, susceptibility to1 test
  • Legius syndrome2 tests
  • Leigh syndrome36 tests
  • Lenz microphthalmia syndrome2 tests
  • Lenz-Majewski hyperostosis syndrome2 tests
  • LEOPARD syndrome 12 tests
  • LEOPARD syndrome 22 tests
  • LEOPARD syndrome 32 tests
  • Leprechaunism syndrome2 tests
  • Leprosy 21 test
  • Leprosy 31 test
  • Leprosy 41 test
  • Leprosy 52 tests
  • Leptin deficiency or dysfunction2 tests
  • Leptin receptor deficiency2 tests
  • Leri-Weill dyschondrosteosis2 tests
  • Lesch-Nyhan syndrome4 tests
  • Lethal acantholytic epidermolysis bullosa4 tests
  • Lethal arthrogryposis with anterior horn cell disease2 tests
  • Lethal congenital contractural syndrome 32 tests
  • Lethal congenital contracture syndrome 12 tests
  • Lethal congenital contracture syndrome 102 tests
  • Lethal congenital contracture syndrome 112 tests
  • Lethal congenital contracture syndrome 22 tests
  • Lethal congenital contracture syndrome 42 tests
  • Lethal congenital contracture syndrome 52 tests
  • Lethal congenital contracture syndrome 62 tests
  • Lethal congenital contracture syndrome 72 tests
  • Lethal congenital contracture syndrome 82 tests
  • Lethal congenital contracture syndrome 92 tests
  • Lethal Kniest-like syndrome2 tests
  • Lethal multiple pterygium syndrome6 tests
  • Lethal osteosclerotic bone dysplasia2 tests
  • Lethal tight skin contracture syndrome4 tests
  • Leucine-induced hypoglycemia2 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukocyte adhesion deficiency 12 tests
  • Leukocyte adhesion deficiency type II2 tests
  • Leukocyte adhesion deficiency, type III2 tests
  • Leukodystrophy and acquired microcephaly with or without dystonia2 tests
  • Leukodystrophy, adult-onset, autosomal dominant4 tests
  • Leukodystrophy, hypomyelinating, 102 tests
  • Leukodystrophy, hypomyelinating, 112 tests
  • Leukodystrophy, hypomyelinating, 122 tests
  • Leukodystrophy, hypomyelinating, 132 tests
  • Leukodystrophy, hypomyelinating, 22 tests
  • Leukodystrophy, hypomyelinating, 42 tests
  • Leukodystrophy, hypomyelinating, 62 tests
  • Leukodystrophy, hypomyelinating, 92 tests
  • Leukoencephalopathy with ataxia2 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
  • Leukoencephalopathy with dystonia and motor neuropathy1 test
  • Leukoencephalopathy with vanishing white matter12 tests
  • Leukoencephalopathy, cystic, without megalencephaly2 tests
  • Leukoencephalopathy, progressive, with ovarian failure2 tests
  • Leukonychia totalis1 test
  • Leukotriene c4 synthase deficiency2 tests
  • Levy-Hollister syndrome10 tests
  • Lewy body dementia7 tests
  • Leydig cell hypoplasia, type 12 tests
  • Li-Fraumeni syndrome 13 tests
  • Li-Fraumeni syndrome 24 tests
  • Lichtenstein-knorr syndrome1 test
  • Liddle syndrome 14 tests
  • Liebenberg syndrome1 test
  • Lig4 syndrome2 tests
  • Limb-girdle muscular dystrophy, type 1E1 test
  • Limb-girdle muscular dystrophy, type 1F1 test
  • Limb-girdle muscular dystrophy, type 1G1 test
  • Limb-girdle muscular dystrophy, type 2A2 tests
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy, type 2L2 tests
  • Limb-girdle muscular dystrophy, type 2Q1 test
  • Limb-girdle muscular dystrophy, type 2S1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C24 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C34 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C44 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C54 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C92 tests
  • Limb-mammary syndrome2 tests
  • Linear skin defects with multiple congenital anomalies 12 tests
  • Linear skin defects with multiple congenital anomalies 33 tests
  • Lipase deficiency, combined1 test
  • Lipid proteinosis2 tests
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency1 test
  • Lipodystrophy, congenital generalized, type 32 tests
  • Lipodystrophy, congenital generalized, type 42 tests
  • Lipoprotein glomerulopathy1 test
  • Lipoyltransferase 1 deficiency2 tests
  • Lissencephaly 2, X-linked8 tests
  • Lissencephaly 32 tests
  • Lissencephaly 42 tests
  • Lissencephaly 52 tests
  • Lissencephaly 6, with microcephaly2 tests
  • Lissencephaly 7 with cerebellar hypoplasia2 tests
  • Lissencephaly 82 tests
  • Lissencephaly due to LIS1 mutation4 tests
  • Lissencephaly, X-linked8 tests
  • Localized epidermolysis bullosa simplex12 tests
  • Loeys-Dietz syndrome 14 tests
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 32 tests
  • Loeys-Dietz syndrome 42 tests
  • Loeys-Dietz syndrome 52 tests
  • Long QT syndrome 12 tests
  • Long QT syndrome 102 tests
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 141 test
  • Long QT syndrome 151 test
  • Long QT syndrome 25 tests
  • Long QT syndrome 32 tests
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 92 tests
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency5 tests
  • Low density lipoprotein cholesterol level quantitative trait locus 61 test
  • Low phospholipid associated cholelithiasis2 tests
  • Lowe syndrome2 tests
  • Lucey-Driscoll syndrome1 test
  • Lung carcinoma18 tests
  • Lung disease, immunodeficiency, and chromosome breakage syndrome2 tests
  • Luscan-lumish syndrome2 tests
  • Lymphangiomyomatosis3 tests
  • Lymphatic malformation 32 tests
  • Lymphedema, hereditary, ID2 tests
  • Lymphedema, hereditary, III2 tests
  • Lymphedema, primary, with myelodysplasia6 tests
  • Lymphoproliferative syndrome 12 tests
  • Lymphoproliferative syndrome 1, X-linked2 tests
  • Lymphoproliferative syndrome 22 tests
  • Lymphoproliferative syndrome 2, X-linked2 tests
  • Lynch syndrome I1 test
  • Lynch syndrome II1 test
  • Lysinuric protein intolerance2 tests
  • Lysosomal acid lipase deficiency4 tests
  • Macrocephaly with multiple epiphyseal dysplasia and distinctive facies2 tests
  • Macrocephaly, alopecia, cutis laxa, and scoliosis2 tests
  • Macrocephaly, dysmorphic facies, and psychomotor retardation2 tests
  • Macrocephaly/autism syndrome4 tests
  • Macrocephaly/megalencephaly syndrome, autosomal recessive2 tests
  • Macroglobulinemia, Waldenstrom, susceptibility to, 11 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
  • Macular corneal dystrophy1 test
  • Macular degeneration, age-related, 151 test
  • Macular degeneration, early-onset1 test
  • Macular degeneration, X-linked atrophic2 tests
  • Macular dystrophy with central cone involvement1 test
  • Macular dystrophy, patterned, 12 tests
  • Macular dystrophy, patterned, 21 test
  • Macular dystrophy, patterned, 31 test
  • Macular dystrophy, vitelliform, 41 test
  • Macular dystrophy, vitelliform, 51 test
  • Macular dystrophy, vitelliform, adult-onset2 tests
  • Majeed syndrome2 tests
  • Major affective disorder 71 test
  • Major depressive disorder5 tests
  • Malaria, mild, susceptibility to1 test
  • Malignant hyperthermia, susceptibility to, 16 tests
  • Malignant hyperthermia, susceptibility to, 52 tests
  • Malignant tumor of esophagus6 tests
  • Malignant tumor of prostate16 tests
  • Malignant tumor of testis3 tests
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome1 test
  • Mandibuloacral dysplasia with type A lipodystrophy2 tests
  • Mandibuloacral dysplasia with type B lipodystrophy4 tests
  • Mandibulofacial dysostosis with alopecia2 tests
  • Mandibulofacial dysostosis-microcephaly syndrome2 tests
  • Mannose-binding protein deficiency2 tests
  • Maple syrup urine disease6 tests
  • Maple syrup urine disease, mild variant2 tests
  • Maple syrup urine disease, type 32 tests
  • Marden-Walker syndrome2 tests
  • Marfan lipodystrophy syndrome2 tests
  • Marfan syndrome2 tests
  • Marinesco-Sjögren syndrome2 tests
  • Marshall syndrome4 tests
  • Marshall-Smith syndrome2 tests
  • MASA syndrome4 tests
  • MASP2 deficiency2 tests
  • MASS syndrome2 tests
  • Mast syndrome1 test
  • Mastocytosis1 test
  • Maternal riboflavin deficiency2 tests
  • Matthew-Wood syndrome2 tests
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 91 test
  • Maturity-onset diabetes of the young, type 12 tests
  • Maturity-onset diabetes of the young, type 101 test
  • Maturity-onset diabetes of the young, type 111 test
  • Maturity-onset diabetes of the young, type 131 test
  • Maturity-onset diabetes of the young, type 141 test
  • Maturity-onset diabetes of the young, type 22 tests
  • Maturity-onset diabetes of the young, type 32 tests
  • McCune-Albright syndrome1 test
  • McKusick-Kaufman syndrome2 tests
  • McLeod neuroacanthocytosis syndrome2 tests
  • Meacham syndrome4 tests
  • Meckel syndrome 122 tests
  • Meckel syndrome type 12 tests
  • Meckel syndrome type 62 tests
  • Meckel syndrome type 72 tests
  • Meckel syndrome type 82 tests
  • Meckel syndrome, type 102 tests
  • Meckel syndrome, type 112 tests
  • Meckel syndrome, type 22 tests
  • Meckel syndrome, type 32 tests
  • Meckel syndrome, type 44 tests
  • Meckel syndrome, type 52 tests
  • Meckel syndrome, type 92 tests
  • Meconium ileus2 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
  • Medullary cystic kidney disease 12 tests
  • Medulloblastoma5 tests
  • Meesmann corneal dystrophy 12 tests
  • Meester-loeys syndrome2 tests
  • Megaconial type congenital muscular dystrophy2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 14 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation2 tests
  • Megalencephaly-capillary malformation-polymicrogyria syndrome2 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 22 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32 tests
  • Megaloblastic anemia due to dihydrofolate reductase deficiency2 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
  • Meier-Gorlin syndrome 12 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 52 tests
  • Meier-gorlin syndrome 62 tests
  • Meier-gorlin syndrome 72 tests
  • Melanoma and neural system tumor syndrome4 tests
  • Melanoma, cutaneous malignant, susceptibility to, 101 test
  • Melanoma-pancreatic cancer syndrome2 tests
  • Melioidosis, susceptibility to2 tests
  • Melnick-Needles syndrome4 tests
  • Melorheostosis2 tests
  • MEND syndrome2 tests
  • Meningioma, familial7 tests
  • Menkes kinky-hair syndrome4 tests
  • Mental retardation 17, X-linked3 tests
  • Mental retardation 3, X-linked2 tests
  • Mental retardation 30, X-linked2 tests
  • Mental retardation 46, X-linked2 tests
  • Mental retardation 49, X-linked3 tests
  • Mental retardation 58, X-linked2 tests
  • Mental retardation 63, X-linked2 tests
  • Mental retardation 9, X-linked2 tests
  • Mental retardation 91, X-linked2 tests
  • Mental retardation and distinctive facial features with or without cardiac defects2 tests
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia4 tests
  • Mental retardation with language impairment and with or without autistic features2 tests
  • Mental retardation with panhypopituitarism, X-linked2 tests
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance2 tests
  • Mental retardation, anterior maxillary protrusion, and strabismus2 tests
  • Mental retardation, autosomal dominant 12 tests
  • Mental retardation, autosomal dominant 102 tests
  • Mental retardation, autosomal dominant 112 tests
  • Mental retardation, autosomal dominant 132 tests
  • Mental retardation, autosomal dominant 144 tests
  • Mental retardation, autosomal dominant 152 tests
  • Mental retardation, autosomal dominant 162 tests
  • Mental retardation, autosomal dominant 182 tests
  • Mental retardation, autosomal dominant 192 tests
  • Mental retardation, autosomal dominant 212 tests
  • Mental retardation, autosomal dominant 222 tests
  • Mental retardation, autosomal dominant 232 tests
  • Mental retardation, autosomal dominant 242 tests
  • Mental retardation, autosomal dominant 262 tests
  • Mental retardation, autosomal dominant 272 tests
  • Mental retardation, autosomal dominant 292 tests
  • Mental retardation, autosomal dominant 32 tests
  • Mental retardation, autosomal dominant 302 tests
  • Mental retardation, autosomal dominant 312 tests
  • Mental retardation, autosomal dominant 332 tests
  • Mental retardation, autosomal dominant 342 tests
  • Mental retardation, autosomal dominant 352 tests
  • Mental retardation, autosomal dominant 362 tests
  • Mental retardation, autosomal dominant 382 tests
  • Mental retardation, autosomal dominant 392 tests
  • Mental retardation, autosomal dominant 42 tests
  • Mental retardation, autosomal dominant 402 tests
  • Mental retardation, autosomal dominant 412 tests
  • Mental retardation, autosomal dominant 422 tests
  • Mental retardation, autosomal dominant 432 tests
  • Mental retardation, autosomal dominant 442 tests
  • Mental retardation, autosomal dominant 52 tests
  • Mental retardation, autosomal dominant 64 tests
  • Mental retardation, autosomal dominant 72 tests
  • Mental retardation, autosomal recessive 12 tests
  • Mental retardation, autosomal recessive 122 tests
  • Mental retardation, autosomal recessive 132 tests
  • Mental retardation, autosomal recessive 142 tests
  • Mental retardation, autosomal recessive 152 tests
  • Mental retardation, autosomal recessive 182 tests
  • Mental retardation, autosomal recessive 22 tests
  • Mental retardation, autosomal recessive 272 tests
  • Mental retardation, autosomal recessive 32 tests
  • Mental retardation, autosomal recessive 342 tests
  • Mental retardation, autosomal recessive 362 tests
  • Mental retardation, autosomal recessive 372 tests
  • Mental retardation, autosomal recessive 382 tests
  • Mental retardation, autosomal recessive 392 tests
  • Mental retardation, autosomal recessive 402 tests
  • Mental retardation, autosomal recessive 412 tests
  • Mental retardation, autosomal recessive 422 tests
  • Mental retardation, autosomal recessive 432 tests
  • Mental retardation, autosomal recessive 442 tests
  • Mental retardation, autosomal recessive 452 tests
  • Mental retardation, autosomal recessive 462 tests
  • Mental retardation, autosomal recessive 472 tests
  • Mental retardation, autosomal recessive 482 tests
  • Mental retardation, autosomal recessive 492 tests
  • Mental retardation, autosomal recessive 52 tests
  • Mental retardation, autosomal recessive 502 tests
  • Mental retardation, autosomal recessive 511 test
  • Mental retardation, autosomal recessive 522 tests
  • Mental retardation, autosomal recessive 532 tests
  • Mental retardation, autosomal recessive 542 tests
  • Mental retardation, autosomal recessive 552 tests
  • Mental retardation, autosomal recessive 562 tests
  • Mental retardation, autosomal recessive 572 tests
  • Mental retardation, autosomal recessive 582 tests
  • Mental retardation, autosomal recessive 592 tests
  • Mental retardation, autosomal recessive 62 tests
  • Mental retardation, autosomal recessive 72 tests
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma2 tests
  • Mental retardation, fra12a type2 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations9 tests
  • Mental retardation, syndromic 14, X-linked2 tests
  • Mental retardation, syndromic, Claes-Jensen type, X-linked2 tests
  • Mental retardation, with or without seizures, ARX-related, X-linked4 tests
  • Mental retardation, X-linked 12 tests
  • Mental retardation, X-linked 1002 tests
  • Mental retardation, X-linked 1012 tests
  • Mental retardation, X-linked 1022 tests
  • Mental retardation, X-linked 1032 tests
  • Mental retardation, X-linked 1042 tests
  • Mental retardation, X-linked 1052 tests
  • Mental retardation, X-linked 122 tests
  • Mental retardation, X-linked 196 tests
  • Mental retardation, X-linked 612 tests
  • Mental retardation, X-linked 722 tests
  • Mental retardation, X-linked 932 tests
  • Mental retardation, X-linked 962 tests
  • Mental retardation, X-linked 982 tests
  • Mental retardation, X-linked 992 tests
  • Mental retardation, X-linked 99, syndromic, female-restricted2 tests
  • Mental retardation, X-linked, syndromic 134 tests
  • Mental retardation, X-linked, syndromic 322 tests
  • Mental retardation, X-linked, syndromic 332 tests
  • Mental retardation, X-linked, syndromic 342 tests
  • Mental retardation, X-linked, syndromic, Bain type2 tests
  • Mental retardation, X-linked, syndromic, Hedera type2 tests
  • Mental retardation, X-linked, syndromic, Raymond type2 tests
  • Mental retardation, X-linked, syndromic, wu type2 tests
  • Meretoja syndrome1 test
  • Merosin deficient congenital muscular dystrophy4 tests
  • Mesoaxial synostotic syndactyly with phalangeal reduction1 test
  • Mesothelioma, malignant2 tests
  • Metabolic syndrome X1 test
  • Metachondromatosis2 tests
  • Metachromatic leukodystrophy2 tests
  • Metaphyseal anadysplasia 22 tests
  • Metaphyseal chondrodysplasia, Jansen type2 tests
  • Metaphyseal chondrodysplasia, McKusick type2 tests
  • Metaphyseal chondrodysplasia, Schmid type3 tests
  • Metaphyseal chondrodysplasia, Spahr type2 tests
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly4 tests
  • Metaphyseal dysplasia without hypotrichosis2 tests
  • Metatrophic dysplasia2 tests
  • Methemoglobinemia type 42 tests
  • Methylcobalamin deficiency type cblG2 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency2 tests
  • Methylmalonic acidemia with homocystinuria cblD6 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ2 tests
  • Methylmalonic aciduria and homocystinuria type cblF2 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect2 tests
  • Methylmalonyl-CoA epimerase deficiency2 tests
  • Mevalonic aciduria2 tests
  • Microcephalic osteodysplastic primordial dwarfism type II2 tests
  • Microcephaly 16, primary, autosomal recessive2 tests
  • Microcephaly 17, primary, autosomal recessive2 tests
  • Microcephaly and chorioretinopathy, autosomal recessive, 12 tests
  • Microcephaly and chorioretinopathy, autosomal recessive, 22 tests
  • Microcephaly and chorioretinopathy, autosomal recessive, 32 tests
  • Microcephaly with mental retardation and digital anomalies3 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation2 tests
  • Microcephaly, congenital cataract, and psoriasiform dermatitis2 tests
  • Microcephaly, epilepsy, and diabetes syndrome2 tests
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcephaly, postnatal progressive, with seizures and brain atrophy2 tests
  • Microcephaly, short stature, and impaired glucose metabolism 12 tests
  • Microcephaly, short stature, and impaired glucose metabolism 22 tests
  • Microcephaly, short stature, and polymicrogyria with or without seizures2 tests
  • Microcephaly-capillary malformation syndrome2 tests
  • Microcornea, myopic chorioretinal atrophy, and telecanthus1 test
  • Microcytic anemia1 test
  • Microphthalmia with brain and digit anomalies2 tests
  • Microphthalmia with limb anomalies2 tests
  • Microphthalmia, isolated 21 test
  • Microphthalmia, isolated 31 test
  • Microphthalmia, isolated 41 test
  • Microphthalmia, isolated 51 test
  • Microphthalmia, isolated 61 test
  • Microphthalmia, isolated 71 test
  • Microphthalmia, isolated 81 test
  • Microphthalmia, isolated, with coloboma 101 test
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 54 tests
  • Microphthalmia, isolated, with coloboma 64 tests
  • Microphthalmia, isolated, with coloboma 71 test
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 111 test
  • Microphthalmia, syndromic 121 test
  • Microphthalmia, syndromic 131 test
  • Microphthalmia/coloboma and skeletal dysplasia syndrome2 tests
  • Microspherophakia1 test
  • Microtia, hearing impairment, and cleft palate2 tests
  • Microvascular complications of diabetes 11 test
  • Microvascular complications of diabetes 21 test
  • Microvascular complications of diabetes 41 test
  • Microvascular complications of diabetes 54 tests
  • Microvascular complications of diabetes 61 test
  • Microvascular complications of diabetes 72 tests
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2 tests
  • Migraine5 tests
  • Migraine, with or without aura 131 test
  • Miller Dieker syndrome2 tests
  • Miller syndrome2 tests
  • Minicore myopathy with external ophthalmoplegia4 tests
  • Mirage syndrome2 tests
  • Mirror movements 11 test
  • Mirror movements 21 test
  • Mirror movements 31 test
  • Mitchell-Riley syndrome2 tests
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency2 tests
  • Mitochondrial complex I deficiency, nuclear type 133 tests
  • Mitochondrial complex II deficiency, nuclear type 110 tests
  • Mitochondrial complex III deficiency, nuclear type 12 tests
  • Mitochondrial complex III deficiency, nuclear type 22 tests
  • Mitochondrial complex III deficiency, nuclear type 32 tests
  • Mitochondrial complex III deficiency, nuclear type 42 tests
  • Mitochondrial complex III deficiency, nuclear type 52 tests
  • Mitochondrial complex III deficiency, nuclear type 62 tests
  • Mitochondrial complex III deficiency, nuclear type 72 tests
  • Mitochondrial complex III deficiency, nuclear type 82 tests
  • Mitochondrial complex III deficiency, nuclear type 92 tests
  • Mitochondrial complex IV deficiency22 tests
  • Mitochondrial complex v (atp synthase) deficiency, nuclear type 42 tests
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)2 tests
  • Mitochondrial DNA depletion syndrome 112 tests
  • Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant4 tests
  • Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive4 tests
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)2 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)2 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 24 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type4 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)4 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)4 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy8 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral4 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome2 tests
  • Mitochondrial phosphate carrier deficiency2 tests
  • Mitochondrial pyruvate carrier deficiency2 tests
  • Mitochondrial short-chain enoyl-coa hydratase 1 deficiency2 tests
  • Mitochondrial trifunctional protein deficiency3 tests
  • Mitral valve prolapse 21 test
  • Miyoshi muscular dystrophy 14 tests
  • Miyoshi muscular dystrophy 34 tests
  • Molybdenum cofactor deficiency, complementation group A2 tests
  • Molybdenum cofactor deficiency, complementation group B2 tests
  • Molybdenum cofactor deficiency, complementation group C2 tests
  • Monocarboxylate transporter 1 deficiency2 tests
  • Mononeuropathy of the median nerve, mild2 tests
  • Morbid obesity and spermatogenic failure1 test
  • MORM syndrome2 tests
  • Mosaic variegated aneuploidy syndrome 11 test
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mowat-Wilson syndrome2 tests
  • Moyamoya disease 21 test
  • Moyamoya disease 51 test
  • Moyamoya disease 6 with achalasia1 test
  • MPDU1-CDG2 tests
  • MPI-CDG2 tests
  • Mucolipidosis type II2 tests
  • Mucolipidosis type III gamma2 tests
  • Mucolipidosis type IV2 tests
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 72 tests
  • Mucopolysaccharidosis, MPS-I-H/S2 tests
  • Mucopolysaccharidosis, MPS-I-S2 tests
  • Mucopolysaccharidosis, MPS-II4 tests
  • Mucopolysaccharidosis, MPS-III-A2 tests
  • Mucopolysaccharidosis, MPS-III-B2 tests
  • Mucopolysaccharidosis, MPS-III-C2 tests
  • Mucopolysaccharidosis, MPS-III-D2 tests
  • Mucopolysaccharidosis, MPS-IV-A2 tests
  • Mucopolysaccharidosis, MPS-IV-B2 tests
  • Muenke syndrome4 tests
  • Muir-Torré syndrome2 tests
  • Mulibrey nanism syndrome2 tests
  • Mullerian aplasia and hyperandrogenism2 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
  • Multicentric osteolysis, nodulosis and arthropathy3 tests
  • Multiple acyl-CoA dehydrogenase deficiency6 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 12 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 32 tests
  • Multiple congenital exostosis2 tests
  • Multiple endocrine neoplasia, type 18 tests
  • Multiple endocrine neoplasia, type 2a2 tests
  • Multiple endocrine neoplasia, type 2b2 tests
  • Multiple endocrine neoplasia, type 42 tests
  • Multiple epiphyseal dysplasia type 42 tests
  • Multiple exostoses type 22 tests
  • Multiple fibroadenomas of the breast1 test
  • Multiple fibrofolliculomas3 tests
  • Multiple gastrointestinal atresias1 test
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects2 tests
  • Multiple mitochondrial dysfunctions syndrome 12 tests
  • Multiple mitochondrial dysfunctions syndrome 22 tests
  • Multiple mitochondrial dysfunctions syndrome 32 tests
  • Multiple mitochondrial dysfunctions syndrome 42 tests
  • Multiple myeloma2 tests
  • Multiple sclerosis susceptibility3 tests
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple self-healing squamous epithelioma2 tests
  • Multiple sulfatase deficiency2 tests
  • Multiple synostoses syndrome 21 test
  • Multiple synostoses syndrome 31 test
  • Multiple system atrophy1 test
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Muscle AMP deaminase deficiency2 tests
  • Muscle eye brain disease4 tests
  • Muscular dystrophy, congenital, davignon-chauveau type2 tests
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency2 tests
  • Muscular dystrophy, limb-girdle, type 2W1 test
  • Muscular dystrophy, limb-girdle, type 2X1 test
  • Muscular dystrophy, limb-girdle, type 2y1 test
  • Muscular dystrophy, limb-girdle, type 2z1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 18 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 122 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 132 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 143 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 82 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 92 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 142 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 122 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 141 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 72 tests
  • Mutilating keratoderma1 test
  • Myasthenia, limb-girdle, familial2 tests
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency2 tests
  • Myasthenic syndrome, congenital, 142 tests
  • Myasthenic syndrome, congenital, 152 tests
  • Myasthenic syndrome, congenital, 172 tests
  • Myasthenic syndrome, congenital, 182 tests
  • Myasthenic syndrome, congenital, 192 tests
  • Myasthenic syndrome, congenital, 20, presynaptic2 tests
  • Myasthenic syndrome, congenital, 21, presynaptic2 tests
  • Myasthenic syndrome, congenital, 222 tests
  • Myasthenic syndrome, congenital, 2a, slow-channel2 tests
  • Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency2 tests
  • 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, presynaptic2 tests
  • Myasthenic syndrome, congenital, 82 tests
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, slow-channel congenital2 tests
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive2 tests
  • Mycobacterium tuberculosis, susceptibility to13 tests
  • Myd88 deficiency2 tests
  • Myelodysplastic syndrome5 tests
  • Myelofibrosis4 tests
  • Myeloperoxidase deficiency2 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to1 test
  • MYH-associated polyposis2 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy2 tests
  • Myhre syndrome4 tests
  • Myocardial infarction 112 tests
  • Myoclonic dystonia 112 tests
  • Myoclonic epilepsy, familial infantile1 test
  • Myoclonic-atonic epilepsy1 test
  • Myoclonus, familial 11 test
  • Myoclonus, intractable, neonatal1 test
  • Myofibrillar myopathy 12 tests
  • Myofibrillar myopathy 34 tests
  • Myofibrillar myopathy, BAG3-related4 tests
  • Myofibrillar myopathy, filamin C-related2 tests
  • Myofibrillar myopathy, ZASP-related2 tests
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myopathy with extrapyramidal signs2 tests
  • Myopathy with lactic acidosis, hereditary2 tests
  • Myopathy with postural muscle atrophy, X-linked3 tests
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset2 tests
  • Myopathy, centronuclear, 14 tests
  • Myopathy, centronuclear, 22 tests
  • Myopathy, centronuclear, 42 tests
  • Myopathy, centronuclear, 52 tests
  • Myopathy, congenital, compton-north2 tests
  • Myopathy, distal, 14 tests
  • Myopathy, distal, 42 tests
  • Myopathy, distal, 52 tests
  • Myopathy, distal, with anterior tibial onset4 tests
  • Myopathy, early-onset, with fatal cardiomyopathy2 tests
  • Myopathy, isolated mitochondrial, autosomal dominant2 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 12 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 recessive4 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, reducing body, X-linked, childhood-onset3 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Myopathy, scapulohumeroperoneal2 tests
  • Myopathy, tubular aggregate, 12 tests
  • Myopathy, tubular aggregate, 22 tests
  • Myopathy, vacuolar, with casq1 aggregates2 tests
  • Myopia 21, autosomal dominant1 test
  • Myopia 22, autosomal dominant1 test
  • Myopia 23, autosomal recessive1 test
  • Myopia 24, autosomal dominant1 test
  • Myopia 25, autosomal dominant1 test
  • Myopia 61 test
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosclerosis, autosomal recessive2 tests
  • Myosin storage myopathy4 tests
  • Myostatin-related muscle hypertrophy2 tests
  • Myotonic dystrophy type 21 test
  • Myxoid liposarcoma2 tests
  • N-acetylaspartate deficiency2 tests
  • N-terminal acetyltransferase deficiency1 test
  • Naegeli-Franceschetti-Jadassohn syndrome4 tests
  • Nager syndrome2 tests
  • Nail disorder, nonsyndromic congenital, 82 tests
  • Nail-patella syndrome4 tests
  • Namaqualand hip dysplasia2 tests
  • Nance-Horan syndrome2 tests
  • Nanophthalmos 21 test
  • Nanophthalmos 41 test
  • Narcolepsy 11 test
  • Narcolepsy 71 test
  • Nasopharyngeal carcinoma5 tests
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect2 tests
  • Navajo neurohepatopathy4 tests
  • Naxos disease2 tests
  • NDE1-related microhydranencephaly1 test
  • Nemaline myopathy 14 tests
  • Nemaline myopathy 102 tests
  • Nemaline myopathy 11, autosomal recessive2 tests
  • Nemaline myopathy 22 tests
  • Nemaline myopathy 34 tests
  • Nemaline myopathy 44 tests
  • Nemaline myopathy 52 tests
  • Nemaline myopathy 62 tests
  • Nemaline myopathy 72 tests
  • Nemaline myopathy 82 tests
  • Nemaline myopathy 92 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency2 tests
  • Neonatal severe hyperparathyroidism2 tests
  • Neoplasm of ovary5 tests
  • Neoplasm of stomach8 tests
  • Nephrogenic diabetes insipidus, autosomal1 test
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 11 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
  • Nephronophthisis 14 tests
  • Nephronophthisis 112 tests
  • Nephronophthisis 122 tests
  • Nephronophthisis 132 tests
  • Nephronophthisis 144 tests
  • Nephronophthisis 152 tests
  • Nephronophthisis 162 tests
  • Nephronophthisis 182 tests
  • Nephronophthisis 192 tests
  • Nephronophthisis 202 tests
  • Nephronophthisis 32 tests
  • Nephronophthisis 44 tests
  • Nephronophthisis 71 test
  • Nephronophthisis 92 tests
  • Nephronophthisis-like nephropathy 12 tests
  • Nephropathic cystinosis8 tests
  • Nephropathy with pretibial epidermolysis bullosa and deafness2 tests
  • Nephrotic syndrome, type 102 tests
  • Nephrotic syndrome, type 112 tests
  • Nephrotic syndrome, type 122 tests
  • Nephrotic syndrome, type 132 tests
  • Nephrotic syndrome, type 32 tests
  • Nephrotic syndrome, type 44 tests
  • Nephrotic syndrome, type 5, with or without ocular abnormalities2 tests
  • Nephrotic syndrome, type 62 tests
  • Nephrotic syndrome, type 74 tests
  • Nephrotic syndrome, type 82 tests
  • Nephrotic syndrome, type 92 tests
  • Nestor-Guillermo progeria syndrome2 tests
  • Netherton syndrome2 tests
  • Neu-Laxova syndrome 12 tests
  • Neu-laxova syndrome 23 tests
  • Neural tube defect6 tests
  • Neural tube defects, folate-sensitive5 tests
  • Neuroblastoma2 tests
  • Neuroblastoma 26 tests
  • Neuroblastoma 31 test
  • Neurocutaneous melanocytosis1 test
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset2 tests
  • Neurodegeneration with brain iron accumulation 2b4 tests
  • Neurodegeneration with brain iron accumulation 42 tests
  • Neurodegeneration with brain iron accumulation 52 tests
  • Neurodegeneration with brain iron accumulation 62 tests
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language2 tests
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2 tests
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, familial spinal6 tests
  • Neurofibromatosis, type 16 tests
  • Neurofibromatosis, type 24 tests
  • Neurofibromatosis-Noonan syndrome6 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Neurohypophyseal diabetes insipidus1 test
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset2 tests
  • Neuronal ceroid lipofuscinosis 12 tests
  • Neuronal ceroid lipofuscinosis 102 tests
  • Neuronal ceroid lipofuscinosis 32 tests
  • Neuronal ceroid lipofuscinosis 4B2 tests
  • Neuronal ceroid lipofuscinosis 52 tests
  • Neuronal ceroid lipofuscinosis 61 test
  • Neuronal ceroid lipofuscinosis 72 tests
  • Neuronal ceroid lipofuscinosis 82 tests
  • Neuronopathy, distal hereditary motor, type viia2 tests
  • Neuropathy, hereditary motor and sensory, Russe type1 test
  • Neuropathy, hereditary motor and sensory, type 6B1 test
  • Neuropathy, hereditary sensory and autonomic, type VI1 test
  • Neuropathy, hereditary sensory and autonomic, type VII1 test
  • Neuropathy, hereditary sensory and autonomic, type VIII1 test
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive1 test
  • Neutral 1 amino acid transport defect2 tests
  • Neutral lipid storage myopathy2 tests
  • Neutropenia, nonimmune chronic idiopathic, of adults2 tests
  • Neutropenia, severe congenital 1, autosomal dominant2 tests
  • Neutropenia, severe congenital, 7, autosomal recessive2 tests
  • Neutrophil immunodeficiency syndrome2 tests
  • Newfoundland rod-cone dystrophy1 test
  • Nicolaides-Baraitser syndrome2 tests
  • Niemann-Pick disease type C18 tests
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type B2 tests
  • Niemann-Pick disease, type C24 tests
  • Night blindness, congenital stationary, type 1g1 test
  • Night blindness, congenital stationary, type 1h1 test
  • Nijmegen breakage syndrome-like disorder2 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities2 tests
  • Non-Hodgkin lymphoma6 tests
  • Non-ketotic hyperglycinemia8 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to1 test
  • Nonepidermolytic palmoplantar keratoderma1 test
  • Nonmedullary thyroid carcinoma 12 tests
  • Nonpersistence of intestinal lactase1 test
  • Noonan syndrome 12 tests
  • Noonan syndrome 104 tests
  • Noonan syndrome 34 tests
  • Noonan syndrome 42 tests
  • Noonan syndrome 52 tests
  • Noonan syndrome 64 tests
  • Noonan syndrome 72 tests
  • Noonan syndrome 82 tests
  • Noonan syndrome 92 tests
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
  • Norman-Roberts syndrome2 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 14 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 32 tests
  • Nystagmus 6, congenital, X-linked2 tests
  • Obesity20 tests
  • Obesity, hyperphagia, and developmental delay1 test
  • Obsessive-compulsive disorder4 tests
  • Occult macular dystrophy1 test
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II1 test
  • Ocular coloboma, autosomal recessive1 test
  • Ocular cystinosis4 tests
  • Oculoauricular syndrome1 test
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 41 test
  • Oculodentodigital dysplasia2 tests
  • Oculodentodigital dysplasia, autosomal recessive2 tests
  • Oculofaciocardiodental syndrome1 test
  • Oculomaxillofacial dysostosis2 tests
  • Oculootoradial syndrome4 tests
  • Oculopharyngeal muscular dystrophy2 tests
  • Oculotrichoanal syndrome2 tests
  • Odonto-onycho-dermal dysplasia1 test
  • Oguchi disease2 tests
  • Oguchi disease 22 tests
  • Ohdo syndrome, X-linked1 test
  • Okt4 epitope deficiency4 tests
  • Okur-chung neurodevelopmental syndrome2 tests
  • Oligodontia-colorectal cancer syndrome1 test
  • Olmsted syndrome 12 tests
  • Oocyte maturation defect 11 test
  • Oocyte maturation defect 21 test
  • Opitz GBBB syndrome, type I4 tests
  • Opitz GBBB syndrome, type II2 tests
  • Opsismodysplasia2 tests
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures2 tests
  • Optic atrophy 111 test
  • Optic atrophy 31 test
  • Optic atrophy 71 test
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2 tests
  • Optic nerve hypoplasia, bilateral2 tests
  • Ornithine aminotransferase deficiency2 tests
  • Ornithine carbamoyltransferase deficiency4 tests
  • Orofacial cleft 102 tests
  • Orofacial cleft 114 tests
  • Orofacial cleft 152 tests
  • Orofacial cleft 52 tests
  • Orofacial cleft 6, susceptibility to4 tests
  • Orofacial-digital syndrome IV2 tests
  • Orofaciodigital syndrome I2 tests
  • Orofaciodigital syndrome type 62 tests
  • Orofaciodigital syndrome V2 tests
  • Orofaciodigital syndrome xiv2 tests
  • Orofaciodigital syndrome XV2 tests
  • Orotic aciduria2 tests
  • Orthostatic hypotension 13 tests
  • Orthostatic intolerance1 test
  • Osteoarthritis1 test
  • Osteoarthritis of distal interphalangeal joint1 test
  • Osteoarthritis of hip1 test
  • Osteoarthritis susceptibility 31 test
  • Osteochondritis dissecans1 test
  • Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type2 tests
  • Osteocraniostenosis2 tests
  • Osteodysplastic primordial dwarfism, type 12 tests
  • Osteofibrous dysplasia2 tests
  • Osteogenesis imperfecta type 102 tests
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 82 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I4 tests
  • Osteogenesis imperfecta type III8 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form8 tests
  • Osteogenesis imperfecta, recessive perinatal lethal8 tests
  • Osteogenesis imperfecta, type VI2 tests
  • Osteogenesis imperfecta, type XI2 tests
  • Osteogenesis imperfecta, type xiii2 tests
  • Osteogenesis imperfecta, type xiv2 tests
  • Osteogenesis imperfecta, type xv2 tests
  • Osteogenesis imperfecta, type xvi2 tests
  • Osteogenesis imperfecta, type xvii2 tests
  • Osteoglophonic dysplasia4 tests
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis2 tests
  • Osteopathia striata with cranial sclerosis2 tests
  • Osteopetrosis with renal tubular acidosis1 test
  • Osteopetrosis, autosomal recessive 52 tests
  • Osteopetrosis, autosomal recessive 82 tests
  • Osteoporosis with pseudoglioma4 tests
  • Otodental syndrome2 tests
  • Otofaciocervical syndrome 14 tests
  • Otofaciocervical syndrome 22 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
  • Ovalocytosis, southeast Asian1 test
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 22 tests
  • Ovarian dysgenesis 31 test
  • Ovarian dysgenesis 41 test
  • Ovarian hyperstimulation syndrome1 test
  • Overhydrated hereditary stomatocytosis3 tests
  • Oxoglutaricaciduria2 tests
  • p phenotype1 test
  • Pachyonychia congenita 11 test
  • Pachyonychia congenita 21 test
  • Pachyonychia congenita 31 test
  • Pachyonychia congenita 41 test
  • Paget disease of bone 2, early-onset1 test
  • Paget disease of bone 31 test
  • Paget disease of bone 61 test
  • Pallister-Hall syndrome4 tests
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal2 tests
  • Palmoplantar keratoderma and woolly hair1 test
  • Palmoplantar keratoderma i, striate, focal, or diffuse1 test
  • Palmoplantar keratoderma, Bothnian type1 test
  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked2 tests
  • Palmoplantar keratoderma, nagashima type1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 21 test
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
  • Palmoplantar keratoderma, punctate type 1A1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Pancreatic agenesis 12 tests
  • Pancreatic agenesis 22 tests
  • Pancreatic agenesis and congenital heart disease2 tests
  • Pancreatic cancer 11 test
  • Pancreatic cancer 22 tests
  • Pancreatic cancer 32 tests
  • Pancreatic cancer 42 tests
  • Pancreatic lipase deficiency1 test
  • Panhypopituitarism, X-linked1 test
  • Panic disorder 11 test
  • Papillon-Lefèvre syndrome1 test
  • Paragangliomas 12 tests
  • Paramyotonia congenita of von Eulenburg4 tests
  • Parastremmatic dwarfism2 tests
  • Parathyroid carcinoma2 tests
  • Parietal foramina 12 tests
  • Parietal foramina 22 tests
  • Parietal foramina with cleidocranial dysplasia2 tests
  • Parkinson disease 12 tests
  • Parkinson disease 111 test
  • Parkinson disease 131 test
  • Parkinson disease 142 tests
  • Parkinson disease 151 test
  • Parkinson disease 171 test
  • Parkinson disease 181 test
  • Parkinson disease 19a, juvenile-onset2 tests
  • Parkinson disease 21 test
  • Parkinson disease 20, early-onset1 test
  • Parkinson disease 22, autosomal dominant1 test
  • Parkinson disease 23, autosomal recessive early-onset1 test
  • Parkinson disease 42 tests
  • Parkinson disease 52 tests
  • Parkinson disease 6, autosomal recessive early-onset2 tests
  • Parkinson disease 72 tests
  • Parkinson disease 8, autosomal dominant1 test
  • Parkinson disease, late-onset7 tests
  • Parkinson-dementia syndrome2 tests
  • Parkinsonism with spasticity, X-linked1 test
  • Parkinsonism-dystonia, infantile, 11 test
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Paroxysmal nocturnal hemoglobinuria 21 test
  • Paroxysmal nonkinesigenic dyskinesia 13 tests
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy2 tests
  • Partial albinism4 tests
  • Partial androgen insensitivity syndrome4 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome2 tests
  • Partington syndrome4 tests
  • Patent ductus arteriosus 21 test
  • Patent ductus arteriosus 31 test
  • Peeling skin syndrome 11 test
  • Peeling skin syndrome 21 test
  • Peeling skin syndrome 31 test
  • Peeling skin syndrome 41 test
  • Peeling skin syndrome 51 test
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads1 test
  • Pelger-Huët anomaly2 tests
  • Pelizaeus-Merzbacher disease4 tests
  • Pelviscapular dysplasia2 tests
  • Pena-Shokeir syndrome type I6 tests
  • Pendred syndrome2 tests
  • PERCHING syndrome2 tests
  • Periodic fever, menstrual cycle-dependent1 test
  • Periodontitis, aggressive, 11 test
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss1 test
  • Periventricular nodular heterotopia 16 tests
  • Periventricular nodular heterotopia 62 tests
  • Periventricular nodular heterotopia 72 tests
  • Perlman syndrome2 tests
  • Permanent neonatal diabetes mellitus6 tests
  • Peroxisomal acyl-CoA oxidase deficiency2 tests
  • Peroxisomal fatty acyl-coa reductase 1 disorder2 tests
  • Peroxisome biogenesis disorder 10A2 tests
  • Peroxisome biogenesis disorder 10b2 tests
  • Peroxisome biogenesis disorder 11A2 tests
  • Peroxisome biogenesis disorder 11B2 tests
  • Peroxisome biogenesis disorder 12A2 tests
  • Peroxisome biogenesis disorder 13A2 tests
  • Peroxisome biogenesis disorder 14B2 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 1B2 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 2B2 tests
  • Peroxisome biogenesis disorder 3A2 tests
  • Peroxisome biogenesis disorder 4a (zellweger)2 tests
  • Peroxisome biogenesis disorder 4B2 tests
  • Peroxisome biogenesis disorder 5a (zellweger)2 tests
  • Peroxisome biogenesis disorder 5B2 tests
  • Peroxisome biogenesis disorder 6A2 tests
  • Peroxisome biogenesis disorder 6B2 tests
  • Peroxisome biogenesis disorder 7A2 tests
  • Peroxisome biogenesis disorder 7B2 tests
  • Peroxisome biogenesis disorder 8A2 tests
  • Peroxisome biogenesis disorder 8B2 tests
  • Peroxisome biogenesis disorder 9B2 tests
  • Peroxisome biogenesis disorder type 3B2 tests
  • Perrault syndrome 12 tests
  • Perrault syndrome 22 tests
  • Perrault syndrome 32 tests
  • Perrault syndrome 42 tests
  • Perrault syndrome 54 tests
  • Perry syndrome2 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive1 test
  • Persistent Mullerian duct syndrome2 tests
  • Peters plus syndrome2 tests
  • Pettigrew syndrome3 tests
  • Peutz-Jeghers syndrome3 tests
  • Pfeiffer syndrome8 tests
  • Phenylketonuria6 tests
  • Pheochromocytoma10 tests
  • Phosphate transport defect2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
  • Phosphoglycerate dehydrogenase deficiency2 tests
  • Phosphoglycerate kinase 1 deficiency2 tests
  • Phosphohydroxylysinuria1 test
  • Phosphoribosylpyrophosphate synthetase superactivity2 tests
  • Phosphoserine aminotransferase deficiency1 test
  • Phytanic acid storage disease3 tests
  • Pick disease4 tests
  • Pierpont syndrome2 tests
  • Pierson syndrome2 tests
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked1 test
  • Pigmentary pallidal degeneration4 tests
  • Pigmentary retinal dystrophy7 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented nodular adrenocortical disease, primary, 31 test
  • Pigmented nodular adrenocortical disease, primary, 41 test
  • Pigmented paravenous chorioretinal atrophy2 tests
  • Pili torti-deafness syndrome2 tests
  • Pilomatrixoma2 tests
  • Pineal hyperplasia AND diabetes mellitus syndrome1 test
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 18 tests
  • Pitt-Hopkins-like syndrome 24 tests
  • Pituitary dependent hypercortisolism2 tests
  • Pituitary hormone deficiency, combined 22 tests
  • Pituitary hormone deficiency, combined 61 test
  • Pituitary hormone deficiency, combined, 12 tests
  • Pityriasis rubra pilaris1 test
  • Plasma fibronectin deficiency1 test
  • Plasma triglyceride level quantitative trait locus1 test
  • Plasminogen deficiency, type I2 tests
  • Platelet glycoprotein IV deficiency2 tests
  • Platelet-activating factor acetylhydrolase deficiency1 test
  • Platelet-type bleeding disorder 111 test
  • Platelet-type bleeding disorder 13, susceptibility to1 test
  • Platelet-type bleeding disorder 151 test
  • Platelet-type bleeding disorder 162 tests
  • Platelet-type bleeding disorder 171 test
  • Platelet-type bleeding disorder 181 test
  • Platelet-type bleeding disorder 191 test
  • Platelet-type bleeding disorder 201 test
  • Platelet-type bleeding disorder 82 tests
  • Platelet-type bleeding disorder 92 tests
  • Platyspondylic dysplasia, Torrance type4 tests
  • Pleomorphic adenoma of salivary gland1 test
  • Pneumothorax, primary spontaneous2 tests
  • Poikiloderma with neutropenia1 test
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis1 test
  • Polyagglutinable erythrocyte syndrome1 test
  • Polyarteritis nodosa, childhoood-onset1 test
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease 32 tests
  • Polycystic kidney disease, adult type4 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 13 tests
  • Polycystic liver disease 12 tests
  • Polycystic liver disease 22 tests
  • Polycythemia vera1 test
  • Polydactyly, preaxial II3 tests
  • Polyendocrine-polyneuropathy syndrome1 test
  • Polyglandular autoimmune syndrome, type 12 tests
  • Polyglucosan body myopathy 1 with or without immunodeficiency2 tests
  • Polyglucosan body myopathy 22 tests
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
  • Polymicrogyria with optic nerve hypoplasia2 tests
  • Polymicrogyria, asymmetric2 tests
  • Polymicrogyria, bilateral frontoparietal2 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive2 tests
  • Polymicrogyria, bilateral temporooccipital1 test
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2 tests
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract2 tests
  • Polysubstance abuse, susceptibility to2 tests
  • Pontocerebellar hypoplasia type 1A2 tests
  • Pontocerebellar hypoplasia type 2A2 tests
  • Pontocerebellar hypoplasia type 2B2 tests
  • Pontocerebellar hypoplasia type 2C2 tests
  • Pontocerebellar hypoplasia type 2D2 tests
  • Pontocerebellar hypoplasia type 32 tests
  • Pontocerebellar hypoplasia type 42 tests
  • Pontocerebellar hypoplasia type 52 tests
  • Pontocerebellar hypoplasia type 62 tests
  • Pontocerebellar hypoplasia type 82 tests
  • Pontocerebellar hypoplasia, type 102 tests
  • Pontocerebellar hypoplasia, type 1b2 tests
  • Pontocerebellar hypoplasia, type 1c2 tests
  • Pontocerebellar hypoplasia, type 2e2 tests
  • Pontocerebellar hypoplasia, type 2f2 tests
  • Pontocerebellar hypoplasia, type 92 tests
  • Popliteal pterygium syndrome4 tests
  • Porencephaly 22 tests
  • Poretti-Boltshauser syndrome2 tests
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Porokeratosis 7, multiple types1 test
  • Porokeratosis 8, disseminated superficial actinic type1 test
  • Porokeratosis 9, multiple types1 test
  • Porokeratosis of Mibelli1 test
  • Porphobilinogen synthase deficiency6 tests
  • Portal hypertension, noncirrhotic4 tests
  • Postaxial polydactyly type A12 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 31 test
  • Postmenopausal osteoporosis9 tests
  • Potassium-aggravated myotonia2 tests
  • Potocki-Lupski syndrome2 tests
  • Prader-Willi syndrome8 tests
  • Preaxial polydactyly 42 tests
  • Precocious puberty, central, 11 test
  • Precocious puberty, central, 22 tests
  • Preeclampsia/eclampsia 41 test
  • Preeclampsia/eclampsia 51 test
  • Pregnancy loss, recurrent, susceptibility to, 12 tests
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Pregnancy loss, recurrent, susceptibility to, 31 test
  • Preimplantation embryonic lethality 21 test
  • Prekallikrein deficiency1 test
  • Premature aging syndrome, Penttinen type1 test
  • Premature chromatid separation trait1 test
  • Premature ovarian failure 12 tests
  • Premature ovarian failure 101 test
  • Premature ovarian failure 111 test
  • Premature ovarian failure 121 test
  • Premature ovarian failure 2a1 test
  • Premature ovarian failure 2b1 test
  • Premature ovarian failure 32 tests
  • Premature ovarian failure 51 test
  • Premature ovarian failure 61 test
  • Premature ovarian failure 74 tests
  • Premature ovarian failure 81 test
  • Premature ovarian failure 91 test
  • Preterm premature rupture of membranes1 test
  • Pretibial epidermolysis bullosa4 tests
  • Primary aldosteronism, seizures, and neurologic abnormalities2 tests
  • Primary autosomal recessive microcephaly 14 tests
  • Primary autosomal recessive microcephaly 102 tests
  • Primary autosomal recessive microcephaly 112 tests
  • Primary autosomal recessive microcephaly 122 tests
  • Primary autosomal recessive microcephaly 132 tests
  • Primary autosomal recessive microcephaly 142 tests
  • Primary autosomal recessive microcephaly 152 tests
  • Primary autosomal recessive microcephaly 22 tests
  • Primary autosomal recessive microcephaly 34 tests
  • Primary autosomal recessive microcephaly 42 tests
  • Primary autosomal recessive microcephaly 54 tests
  • Primary autosomal recessive microcephaly 64 tests
  • Primary autosomal recessive microcephaly 74 tests
  • Primary autosomal recessive microcephaly 82 tests
  • Primary autosomal recessive microcephaly 92 tests
  • Primary ciliary dyskinesia 231 test
  • Primary ciliary dyskinesia 241 test
  • Primary ciliary dyskinesia 251 test
  • Primary erythromelalgia3 tests
  • Primary familial polycythemia due to EPO receptor mutation3 tests
  • Primary hyperoxaluria, type I4 tests
  • Primary hyperoxaluria, type II4 tests
  • Primary hyperoxaluria, type III2 tests
  • Primary hypertrophic osteoarthropathy, autosomal recessive 21 test
  • Primary hypomagnesemia1 test
  • Primary localized cutaneous amyloidosis 11 test
  • Primary open angle glaucoma1 test
  • Primary pulmonary hypertension 18 tests
  • Primary pulmonary hypertension 22 tests
  • Primary pulmonary hypertension 32 tests
  • Primary pulmonary hypertension 42 tests
  • Progesterone resistance1 test
  • Progressive bulbar palsy of childhood2 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 62 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 22 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 34 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 44 tests
  • Progressive familial heart block type IB1 test
  • Progressive familial heart block, type 1A4 tests
  • Progressive familial intrahepatic cholestasis 22 tests
  • Progressive familial intrahepatic cholestasis 34 tests
  • Progressive familial intrahepatic cholestasis 42 tests
  • Progressive myoclonus epilepsy with ataxia2 tests
  • Progressive myositis ossificans2 tests
  • Progressive osseous heteroplasia2 tests
  • Progressive pseudorheumatoid dysplasia4 tests
  • Progressive sclerosing poliodystrophy4 tests
  • Progressive supranuclear ophthalmoplegia2 tests
  • Prolactin-producing pituitary gland adenoma2 tests
  • Prolidase deficiency2 tests
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome2 tests
  • Proline dehydrogenase deficiency1 test
  • Proopiomelanocortin deficiency2 tests
  • Properdin deficiency, X-linked1 test
  • Propionic acidemia6 tests
  • Proprotein convertase 1/3 deficiency1 test
  • Prostate cancer, hereditary, 11 test
  • Prostate cancer, hereditary, 131 test
  • Prostate cancer, hereditary, 21 test
  • Prostate cancer/brain cancer susceptibility1 test
  • Protan defect1 test
  • Proteasome-associated autoinflammatory syndrome 11 test
  • Protein Z deficiency1 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Proteus syndrome1 test
  • Prothrombin deficiency, congenital2 tests
  • Protoporphyria, erythropoietic, 14 tests
  • Protoporphyria, erythropoietic, X-linked2 tests
  • Prune belly syndrome2 tests
  • Pseudo von Willebrand disease1 test
  • Pseudo-Hurler polydystrophy1 test
  • Pseudo-TORCH syndrome 12 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudoexfoliation glaucoma1 test
  • Pseudofolliculitis barbae1 test
  • Pseudohyperkalemia, familial, 2, due to red cell leak1 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoparathyroidism2 tests
  • Pseudohypoparathyroidism type 1B4 tests
  • Pseudohypoparathyroidism type 1C2 tests
  • Pseudopseudohypoparathyroidism2 tests
  • Pseudoxanthoma elasticum4 tests
  • Pseudoxanthoma elasticum, forme fruste2 tests
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency1 test
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis susceptibility 11 test
  • Psoriasis susceptibility 131 test
  • Psoriasis susceptibility 21 test
  • Psoriasis susceptibility 71 test
  • Psoriatic arthritis, susceptibility to2 tests
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism2 tests
  • Ptosis, hereditary congenital 11 test
  • PULMONARY ALVEOLAR MICROLITHIASIS1 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 12 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 27 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 31 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 41 test
  • Pulmonary hypertension, neonatal, susceptibility to2 tests
  • Pulmonary venoocclusive disease 1, autosomal dominant2 tests
  • Pulmonary venoocclusive disease 2, autosomal recessive1 test
  • Purine-nucleoside phosphorylase deficiency2 tests
  • Pustular psoriasis, generalized1 test
  • Pyknodysostosis2 tests
  • Pyle metaphyseal dysplasia1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
  • Pyridoxal phosphate-responsive seizures2 tests
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate carboxylase deficiency2 tests
  • Pyruvate dehydrogenase E1-alpha deficiency2 tests
  • Pyruvate dehydrogenase E1-beta deficiency2 tests
  • Pyruvate dehydrogenase E2 deficiency2 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency2 tests
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency2 tests
  • Pyruvate dehydrogenase phosphatase deficiency2 tests
  • Pyruvate kinase deficiency of red cells4 tests
  • Quebec platelet disorder1 test
  • Question mark ears, isolated1 test
  • Radial aplasia-thrombocytopenia syndrome1 test
  • Radiohumeral fusions with other skeletal and craniofacial anomalies2 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 12 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 22 tests
  • Rapadilino syndrome2 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome4 tests
  • RAS-associated autoimmune leukoproliferative disorder6 tests
  • Recessive dystrophic epidermolysis bullosa10 tests
  • Recombination rate quantitative trait locus 11 test
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2 tests
  • Reis-Bucklers' corneal dystrophy1 test
  • Renal carnitine transport defect4 tests
  • Renal cell carcinoma, nonpapillary11 tests
  • Renal cell carcinoma, papillary, 12 tests
  • Renal cell carcinoma, Xp11-associated1 test
  • Renal coloboma syndrome2 tests
  • Renal cysts and diabetes syndrome2 tests
  • Renal dysplasia9 tests
  • Renal dysplasia, cystic, susceptibility to2 tests
  • Renal hypodysplasia/aplasia 12 tests
  • Renal hypodysplasia/aplasia 22 tests
  • Renal hypomagnesemia 21 test
  • Renal hypouricemia 22 tests
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular acidosis, distal, autosomal recessive1 test
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
  • Renal-hepatic-pancreatic dysplasia 12 tests
  • Renal-hepatic-pancreatic dysplasia 22 tests
  • Renpenning syndrome 12 tests
  • Resting heart rate2 tests
  • Reticular dysgenesis1 test
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal arterial macroaneurysm with supravalvular pulmonic stenosis1 test
  • Retinal arteries, tortuosity of1 test
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 41 test
  • Retinal dystrophy and iris coloboma with or without congenital cataract1 test
  • Retinal dystrophy and obesity1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities2 tests
  • Retinal dystrophy with or without extraocular anomalies2 tests
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome2 tests
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome1 test
  • Retinal macular dystrophy type 21 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations4 tests
  • Retinitis pigmentosa 12 tests
  • Retinitis pigmentosa 102 tests
  • Retinitis pigmentosa 112 tests
  • Retinitis pigmentosa 122 tests
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 141 test
  • Retinitis pigmentosa 152 tests
  • Retinitis pigmentosa 171 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 192 tests
  • Retinitis pigmentosa 22 tests
  • Retinitis pigmentosa 202 tests
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 261 test
  • Retinitis pigmentosa 273 tests
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 301 test
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 392 tests
  • Retinitis pigmentosa 42 tests
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 481 test
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 504 tests
  • Retinitis pigmentosa 511 test
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 661 test
  • Retinitis pigmentosa 671 test
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 75 tests
  • Retinitis pigmentosa 701 test
  • Retinitis pigmentosa 711 test
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 731 test
  • Retinitis pigmentosa 741 test
  • Retinitis pigmentosa 751 test
  • Retinitis pigmentosa 762 tests
  • Retinitis pigmentosa 771 test
  • Retinitis pigmentosa 82 with or without situs inversus1 test
  • Retinitis pigmentosa 91 test
  • Retinitis pigmentosa and erythrocytic microcytosis2 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness2 tests
  • Retinoblastoma2 tests
  • Rett syndrome12 tests
  • Rett syndrome, congenital variant2 tests
  • Revesz syndrome2 tests
  • Reynolds syndrome2 tests
  • Rh-null, regulator type1 test
  • Rhabdoid tumor predisposition syndrome 12 tests
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhabdomyosarcoma, embryonal, 21 test
  • Rheumatoid arthritis8 tests
  • Rheumatoid arthritis, systemic juvenile2 tests
  • Rhizomelic chondrodysplasia punctata type 12 tests
  • Rhizomelic chondrodysplasia punctata type 22 tests
  • Rhizomelic chondrodysplasia punctata type 32 tests
  • Rhizomelic chondrodysplasia punctata type 52 tests
  • Richieri Costa-Pereira syndrome2 tests
  • Riddle syndrome2 tests
  • Rigidity and multifocal seizure syndrome, lethal neonatal2 tests
  • Ring dermoid of cornea2 tests
  • Rippling muscle disease 22 tests
  • Ritscher-Schinzel syndrome 12 tests
  • Ritscher-schinzel syndrome 22 tests
  • Robinow syndrome, autosomal dominant 12 tests
  • Robinow syndrome, autosomal dominant 22 tests
  • Robinow syndrome, autosomal dominant 32 tests
  • Robinow syndrome, autosomal recessive4 tests
  • Robinow-Sorauf syndrome5 tests
  • Roifman syndrome2 tests
  • Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2 tests
  • Rothmund-Thomson syndrome type 22 tests
  • Rotor syndrome4 tests
  • Roussy-Lévy syndrome8 tests
  • Rubinstein-Taybi syndrome 14 tests
  • Rubinstein-Taybi syndrome 24 tests
  • Rubinstein-Taybi syndrome due to 16p13.3 microdeletion2 tests
  • Ruijs-Aalfs syndrome2 tests
  • Russell-Silver syndrome6 tests
  • Saccharopinuria1 test
  • Sacral agenesis with vertebral anomalies2 tests
  • Saethre-Chotzen syndrome10 tests
  • Saldino-Mainzer syndrome2 tests
  • Salla disease3 tests
  • Sandhoff disease2 tests
  • Sarcoidosis 21 test
  • Sarcosine dehydrogenase deficiency1 test
  • Sarcotubular myopathy1 test
  • Scalp-ear-nipple syndrome1 test
  • Scaphocephaly, maxillary retrusion, and mental retardation2 tests
  • Scapuloperoneal myopathy, X-linked dominant1 test
  • Scapuloperoneal spinal muscular atrophy1 test
  • Schaaf-Yang syndrome4 tests
  • Schimke immuno-osseous dysplasia2 tests
  • Schinzel phocomelia syndrome2 tests
  • Schinzel-Giedion syndrome2 tests
  • Schizencephaly10 tests
  • Schizophrenia13 tests
  • Schizophrenia 151 test
  • Schizophrenia 173 tests
  • Schizophrenia 181 test
  • Schizophrenia 41 test
  • Schizophrenia 61 test
  • Schizophrenia 91 test
  • Schneckenbecken dysplasia2 tests
  • Schnyder crystalline corneal dystrophy1 test
  • Schopf-Schulz-Passarge syndrome2 tests
  • Schuurs-hoeijmakers syndrome2 tests
  • Schwannomatosis 13 tests
  • Schwannomatosis 22 tests
  • Schwartz-Jampel syndrome2 tests
  • Sclerosteosis 11 test
  • Sclerosteosis 21 test
  • SCOTT SYNDROME2 tests
  • Sea-blue histiocyte syndrome1 test
  • Seborrhea-like dermatitis with psoriasiform elements1 test
  • Seborrheic keratosis1 test
  • Seckel syndrome 14 tests
  • Seckel syndrome 102 tests
  • Seckel syndrome 22 tests
  • Seckel syndrome 44 tests
  • Seckel syndrome 52 tests
  • Seckel syndrome 62 tests
  • Seckel syndrome 72 tests
  • Seckel syndrome 82 tests
  • Seckel syndrome 92 tests
  • Secondary hypothyroidism1 test
  • Seizures, benign familial infantile, 21 test
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial infantile, 51 test
  • Seizures, cortical blindness, and microcephaly syndrome2 tests
  • Seizures, scoliosis, and macrocephaly syndrome4 tests
  • Selective tooth agenesis 11 test
  • Sengers syndrome2 tests
  • Senior-Loken syndrome 14 tests
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 52 tests
  • Senior-Loken syndrome 64 tests
  • Senior-Loken syndrome 72 tests
  • Senior-Loken syndrome 82 tests
  • Senior-Loken syndrome 92 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4 tests
  • Septo-optic dysplasia sequence8 tests
  • SERKAL syndrome6 tests
  • Serum level of adiponectin 11 test
  • Sessile serrated polyposis cancer syndrome1 test
  • Severe autosomal recessive muscular dystrophy of childhood - North African type2 tests
  • Severe combined immunodeficiency due to ADA deficiency4 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency2 tests
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive4 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive4 tests
  • Severe congenital neutropenia 2, autosomal dominant2 tests
  • Severe congenital neutropenia 4, autosomal recessive4 tests
  • Severe congenital neutropenia 5, autosomal recessive2 tests
  • Severe congenital neutropenia 6, autosomal recessive2 tests
  • Severe myoclonic epilepsy in infancy6 tests
  • Severe neonatal-onset encephalopathy with microcephaly4 tests
  • Severe X-linked myotubular myopathy4 tests
  • Shaheen syndrome2 tests
  • Shashi-Pena syndrome3 tests
  • Short QT syndrome 12 tests
  • Short QT syndrome 21 test
  • Short QT syndrome 32 tests
  • Short rib-polydactyly syndrome, Majewski type2 tests
  • Short stature due to growth hormone qualitative anomaly2 tests
  • Short stature due to growth hormone secretagogue receptor deficiency1 test
  • Short stature with microcephaly and distinctive facies2 tests
  • Short stature with nonspecific skeletal abnormalities2 tests
  • Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities2 tests
  • Short stature, brachydactyly, intellectual developmental disability, and seizures2 tests
  • Short stature, developmental delay, and congenital heart defects3 tests
  • Short stature, idiopathic, autosomal1 test
  • Short stature, idiopathic, X-linked2 tests
  • Short stature, microcephaly, and endocrine dysfunction2 tests
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1 test
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome2 tests
  • SHORT syndrome2 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 14 with polydactyly2 tests
  • Short-rib thoracic dysplasia 15 with polydactyly2 tests
  • Short-rib thoracic dysplasia 16 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 3 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
  • Shprintzen syndrome4 tests
  • Shprintzen-Goldberg syndrome2 tests
  • Shwachman-Diamond syndrome 12 tests
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis type 25 tests
  • Sialuria2 tests
  • Sick sinus syndrome 1, autosomal recessive2 tests
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sick sinus syndrome 3, susceptibility to1 test
  • Sideroblastic anemia 3, pyridoxine-refractory2 tests
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay2 tests
  • Sifrim-Hitz-Weiss syndrome2 tests
  • Simpson-Golabi-Behmel syndrome type 14 tests
  • Simpson-Golabi-Behmel syndrome, type 22 tests
  • Singleton-Merten syndrome 12 tests
  • Singleton-Merten syndrome 22 tests
  • Sinoatrial node dysfunction and deafness1 test
  • Sjögren-Larsson syndrome2 tests
  • Skeletal defects, genital hypoplasia, and mental retardation3 tests
  • Skin creases, congenital symmetric circumferential, 23 tests
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome4 tests
  • Skin/hair/eye pigmentation, variation in, 14 tests
  • Skin/hair/eye pigmentation, variation in, 101 test
  • Skin/hair/eye pigmentation, variation in, 111 test
  • Skin/hair/eye pigmentation, variation in, 23 tests
  • Skin/hair/eye pigmentation, variation in, 36 tests
  • Skin/hair/eye pigmentation, variation in, 42 tests
  • Skin/hair/eye pigmentation, variation in, 53 tests
  • Skin/hair/eye pigmentation, variation in, 62 tests
  • Skin/hair/eye pigmentation, variation in, 71 test
  • Skin/hair/eye pigmentation, variation in, 81 test
  • Skin/hair/eye pigmentation, variation in, 92 tests
  • SLC35A2-CDG2 tests
  • SLC39A8-CDG2 tests
  • Slow acetylator due to N-acetyltransferase enzyme variant1 test
  • Slowed nerve conduction velocity, autosomal dominant1 test
  • Small cell lung carcinoma1 test
  • Smith-Kingsmore syndrome2 tests
  • Smith-Lemli-Opitz syndrome4 tests
  • Smith-Magenis syndrome2 tests
  • Smith-McCort dysplasia 12 tests
  • Smith-McCort dysplasia 22 tests
  • Smoking as a quantitative trait locus 33 tests
  • Sneddon syndrome2 tests
  • Snowflake vitreoretinal degeneration1 test
  • Solitary median maxillary central incisor syndrome4 tests
  • Soluble interleukin-6 receptor, serum level of, quantitative trait locus1 test
  • Somatotroph adenoma2 tests
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome 14 tests
  • Sotos syndrome 22 tests
  • Sotos syndrome 32 tests
  • Spastic ataxia 5, autosomal recessive1 test
  • Spastic paraplegia 11, autosomal recessive2 tests
  • Spastic paraplegia 171 test
  • Spastic paraplegia 28, autosomal recessive1 test
  • Spastic paraplegia 30, autosomal recessive1 test
  • Spastic paraplegia 31, autosomal dominant2 tests
  • Spastic paraplegia 33, autosomal dominant2 tests
  • Spastic paraplegia 351 test
  • Spastic paraplegia 4, autosomal dominant2 tests
  • Spastic paraplegia 42, autosomal dominant1 test
  • Spastic paraplegia 43, autosomal recessive1 test
  • Spastic paraplegia 44, autosomal recessive1 test
  • Spastic paraplegia 45, autosomal recessive1 test
  • Spastic paraplegia 46, autosomal recessive1 test
  • Spastic paraplegia 47, autosomal recessive1 test
  • Spastic paraplegia 48, autosomal recessive1 test
  • Spastic paraplegia 49, autosomal recessive1 test
  • Spastic paraplegia 50, autosomal recessive1 test
  • Spastic paraplegia 51, autosomal recessive1 test
  • Spastic paraplegia 52, autosomal recessive1 test
  • Spastic paraplegia 53, autosomal recessive1 test
  • Spastic paraplegia 54, autosomal recessive1 test
  • Spastic paraplegia 55, autosomal recessive1 test
  • Spastic paraplegia 56, autosomal recessive1 test
  • Spastic paraplegia 57, autosomal recessive1 test
  • Spastic paraplegia 61, autosomal recessive1 test
  • Spastic paraplegia 62, autosomal recessive1 test
  • Spastic paraplegia 63, autosomal recessive1 test
  • Spastic paraplegia 64, autosomal recessive1 test
  • Spastic paraplegia 72, autosomal recessive1 test
  • Spastic paraplegia 73, autosomal dominant1 test
  • Spastic paraplegia 74, autosomal recessive1 test
  • Spastic paraplegia 75, autosomal recessive1 test
  • Spastic paraplegia 76, autosomal recessive1 test
  • Spastic paraplegia 77, autosomal recessive1 test
  • Spastic paraplegia 78, autosomal recessive1 test
  • Spastic paraplegia 79, autosomal recessive2 tests
  • Spastic paraplegia 9b, autosomal recessive1 test
  • Spastic paraplegia and psychomotor retardation with or without seizures2 tests
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
  • Spastic paraplegia, optic atrophy, and neuropathy1 test
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly2 tests
  • Spasticity, childhood-onset, with hyperglycinemia1 test
  • Specific granule deficiency 11 test
  • Specific language impairment 51 test
  • Speech-language disorder 11 test
  • Spermatogenic failure 101 test
  • Spermatogenic failure 111 test
  • Spermatogenic failure 121 test
  • Spermatogenic failure 131 test
  • Spermatogenic failure 141 test
  • Spermatogenic failure 151 test
  • Spermatogenic failure 162 tests
  • Spermatogenic failure 171 test
  • Spermatogenic failure 31 test
  • Spermatogenic failure 42 tests
  • Spermatogenic failure 71 test
  • Spermatogenic failure 82 tests
  • Spermatogenic failure 91 test
  • Spermatogenic failure, X-linked, 21 test
  • Spermatogenic failure, Y-linked 21 test
  • Spherocytosis type 11 test
  • Spherocytosis type 24 tests
  • Spherocytosis type 31 test
  • Spherocytosis type 41 test
  • Spherocytosis type 51 test
  • Spheroid body myopathy4 tests
  • Sphingolipid activator protein 1 deficiency2 tests
  • Spinal muscular atrophy with congenital bone fractures 12 tests
  • Spinal muscular atrophy with congenital bone fractures 22 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 12 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 52 tests
  • Spinal muscular atrophy, jokela type2 tests
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant2 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant2 tests
  • Spinal muscular atrophy, type II4 tests
  • Spinal muscular atrophy, type IV4 tests
  • Spinal muscular atrophy, X-linked 22 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
  • Spinocerebellar ataxia 351 test
  • Spinocerebellar ataxia 361 test
  • Spinocerebellar ataxia 381 test
  • Spinocerebellar ataxia 401 test
  • Spinocerebellar ataxia 411 test
  • Spinocerebellar ataxia 421 test
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar ataxia type 141 test
  • Spinocerebellar Ataxia Type 151 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 22 tests
  • Spinocerebellar ataxia type 201 test
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 232 tests
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 281 test
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 341 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 62 tests
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia, autosomal recessive 101 test
  • Spinocerebellar ataxia, autosomal recessive 112 tests
  • Spinocerebellar ataxia, autosomal recessive 124 tests
  • Spinocerebellar ataxia, autosomal recessive 131 test
  • Spinocerebellar ataxia, autosomal recessive 141 test
  • Spinocerebellar ataxia, autosomal recessive 152 tests
  • Spinocerebellar ataxia, autosomal recessive 161 test
  • Spinocerebellar ataxia, autosomal recessive 171 test
  • Spinocerebellar ataxia, autosomal recessive 181 test
  • Spinocerebellar ataxia, autosomal recessive 21 test
  • Spinocerebellar ataxia, autosomal recessive 202 tests
  • Spinocerebellar ataxia, autosomal recessive 211 test
  • Spinocerebellar ataxia, autosomal recessive 221 test
  • Spinocerebellar ataxia, autosomal recessive 232 tests
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive 81 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
  • Spinocerebellar ataxia, X-linked 11 test
  • Split hand-foot malformation 32 tests
  • Split-foot malformation with mesoaxial polydactyly2 tests
  • Split-hand/foot malformation 1 with sensorineural hearing loss2 tests
  • Split-hand/foot malformation 42 tests
  • Split-hand/foot malformation 62 tests
  • Spondylo-megaepiphyseal-metaphyseal dysplasia2 tests
  • Spondylocarpotarsal synostosis syndrome4 tests
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like2 tests
  • Spondylocostal dysostosis 1, autosomal recessive2 tests
  • Spondylocostal dysostosis 2, autosomal recessive2 tests
  • Spondylocostal dysostosis 3, autosomal recessive2 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondylocostal dysostosis 52 tests
  • Spondylocostal dysostosis 6, autosomal recessive2 tests
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia Matrilin-3 related2 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 22 tests
  • Spondyloepimetaphyseal dysplasia, aggrecan type2 tests
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type2 tests
  • Spondyloepimetaphyseal dysplasia, Genevieve type2 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type4 tests
  • Spondyloepimetaphyseal dysplasia, pakistani type1 test
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita6 tests
  • Spondyloepiphyseal dysplasia Maroteaux type2 tests
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations2 tests
  • Spondyloepiphyseal dysplasia, kimberley type2 tests
  • Spondyloepiphyseal dysplasia, stanescu type4 tests
  • Spondylometaphyseal dysplasia4 tests
  • Spondylometaphyseal dysplasia, megarbane-dagher-melki type2 tests
  • Spondylometaphyseal dysplasia, Sedaghatian type2 tests
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloocular syndrome, autosomal recessive2 tests
  • Spondyloperipheral dysplasia-short ulna syndrome4 tests
  • Spongiform encephalopathy with neuropsychiatric features2 tests
  • Spongy degeneration of central nervous system4 tests
  • Squamous cell carcinoma of the head and neck3 tests
  • Stapes ankylosis with broad thumb and toes1 test
  • Stargardt disease 17 tests
  • Stargardt Disease 31 test
  • Stargardt disease 41 test
  • Steatocystoma multiplex1 test
  • Steel syndrome2 tests
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome type 14 tests
  • Stickler syndrome type 24 tests
  • Stickler syndrome, type 42 tests
  • Stickler syndrome, type 52 tests
  • Stickler syndrome, type I, nonsyndromic ocular4 tests
  • Stiff skin syndrome4 tests
  • Sting-associated vasculopathy, infantile-onset1 test
  • Stocco dos Santos syndrome2 tests
  • Stomatin-deficient cryohydrocytosis with neurologic defects2 tests
  • Stormorken syndrome2 tests
  • Striatal degeneration, autosomal dominant 12 tests
  • Striatal degeneration, autosomal dominant 22 tests
  • Striatal necrosis, bilateral, and progressive polyneuropathy1 test
  • Striatonigral degeneration infantile2 tests
  • Striatonigral degeneration, childhood-onset3 tests
  • Stroke 11 test
  • Stromme syndrome2 tests
  • Sturge-Weber syndrome1 test
  • Stuttering, familial persistent 11 test
  • Stüve-Wiedemann syndrome2 tests
  • Succinate-semialdehyde dehydrogenase deficiency2 tests
  • Succinyl-CoA acetoacetate transferase deficiency2 tests
  • Sucrase-isomaltase deficiency2 tests
  • SUDDEN INFANT DEATH SYNDROME4 tests
  • Sudden infant death with dysgenesis of the testes syndrome2 tests
  • Supravalvar aortic stenosis1 test
  • Surfactant metabolism dysfunction, pulmonary, 12 tests
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 32 tests
  • Surfactant metabolism dysfunction, pulmonary, 42 tests
  • Surfactant metabolism dysfunction, pulmonary, 52 tests
  • Susceptibility to bulimia nervosa1 test
  • Susceptibility to hepatitis C virus7 tests
  • Susceptibility to malaria15 tests
  • Susceptibility to severe cutaneous adverse reaction7 tests
  • Sveinsson chorioretinal atrophy1 test
  • Symmetric circumferential skin creases, congenital, 12 tests
  • Symmetrical dyschromatosis of extremities1 test
  • Symphalangism, proximal, 1A1 test
  • Symphalangism, proximal, 1B1 test
  • Symphalangism-brachydactyly syndrome1 test
  • Syndactyly type 12 tests
  • Syndactyly, type IV1 test
  • Syndactyly, type V2 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
  • Syndromic mental retardation, Nascimento type, X-linked2 tests
  • Syndromic microphthalmia type 52 tests
  • Syndromic X-linked intellectual disability Lubs type5 tests
  • Syndromic X-linked intellectual disability Siderius type2 tests
  • Syndromic X-linked intellectual disability Snyder type2 tests
  • Syndromic X-linked mental retardation, Cabezas type2 tests
  • Synovial sarcoma2 tests
  • Synpolydactyly 12 tests
  • Synpolydactyly 21 test
  • Systemic lupus erythematosus7 tests
  • Systemic lupus erythematosus 12 tests
  • Systemic lupus erythematosus 101 test
  • Systemic lupus erythematosus 161 test
  • Systemic lupus erythematosus 21 test
  • Systemic lupus erythematosus 61 test
  • Systemic lupus erythematosus 91 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy2 tests
  • T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations2 tests
  • T-cell receptor alpha/beta deficiency2 tests
  • Takenouchi-Kosaki syndrome2 tests
  • Tangier disease1 test
  • TARP syndrome2 tests
  • Tarsal-carpal coalition syndrome1 test
  • Tatton-Brown-rahman syndrome2 tests
  • Tay-Sachs disease10 tests
  • Tay-Sachs disease, variant AB2 tests
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Temple-Baraitser syndrome2 tests
  • Temtamy preaxial brachydactyly syndrome1 test
  • Temtamy syndrome2 tests
  • Tenorio syndrome3 tests
  • Terminal osseous dysplasia2 tests
  • Testicular anomalies with or without congenital heart disease2 tests
  • Testosterone 17-beta-dehydrogenase deficiency2 tests
  • Tetraamelia, autosomal recessive2 tests
  • Tetralogy of Fallot20 tests
  • Thanatophoric dysplasia type 12 tests
  • Thanatophoric dysplasia, type 22 tests
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)2 tests
  • Thiel-Behnke corneal dystrophy1 test
  • Thiopurine methyltransferase deficiency2 tests
  • Thiopurines, poor metabolism of, 21 test
  • Thiourea tasting1 test
  • Three M syndrome 12 tests
  • Three M syndrome 22 tests
  • Three M syndrome 32 tests
  • Thrombocythemia 13 tests
  • Thrombocythemia 31 test
  • Thrombocytopenia 12 tests
  • Thrombocytopenia 21 test
  • Thrombocytopenia 41 test
  • Thrombocytopenia 51 test
  • Thrombocytopenia 61 test
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis1 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
  • Thrombocytosis, benign familial microcytic1 test
  • Thrombophilia due to factor V Leiden4 tests
  • Thrombophilia due to protein S deficiency, autosomal dominant2 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive2 tests
  • Thrombophilia due to thrombin defect5 tests
  • Thrombophilia due to thrombomodulin defect1 test
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive2 tests
  • Thrombophilia, histidine-rich glycoprotein-related2 tests
  • Thrombophilia, X-linked, due to factor IX defect4 tests
  • Thromboxane synthetase deficiency1 test
  • Thyroglobulin synthesis defect1 test
  • Thyroid cancer, nonmedullary, 24 tests
  • Thyroid cancer, nonmedullary, 42 tests
  • Thyroid cancer, nonmedullary, 51 test
  • Thyroid dyshormonogenesis 11 test
  • Thyroid dyshormonogenesis 61 test
  • Thyroid hormone metabolism, abnormal1 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyroid hormone resistance, selective pituitary1 test
  • Thyrotoxic periodic paralysis 21 test
  • Thyrotoxic periodic paralysis, susceptibility to, 12 tests
  • Tibia, hypoplasia or aplasia of, with polydactyly2 tests
  • Tibial muscular dystrophy2 tests
  • Tietz syndrome2 tests
  • Timothy syndrome1 test
  • TMEM199-CDG2 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Tobacco addiction, susceptibility to7 tests
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 41 test
  • Tooth agenesis, selective, 71 test
  • Tooth agenesis, selective, 81 test
  • Tooth agenesis, selective, 91 test
  • Tooth agenesis, selective, X-linked, 12 tests
  • Torsion dystonia 21 test
  • Torsion dystonia 62 tests
  • Townes-Brocks syndrome 18 tests
  • Transcolabamin II deficiency2 tests
  • Transferrin serum level quantitative trait locus 22 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 12 tests
  • Transposition of the great arteries, dextro-looped 32 tests
  • Treacher Collins syndrome 14 tests
  • Treacher Collins syndrome 22 tests
  • Treacher Collins syndrome 32 tests
  • Tremor, hereditary essential, 41 test
  • Tremor, hereditary essential, 52 tests
  • Tricho-dento-osseous syndrome2 tests
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichomegaly1 test
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome2 tests
  • Trichorhinophalangeal dysplasia type I4 tests
  • Trichorhinophalangeal syndrome, type III4 tests
  • Trichothiodystrophy 1, photosensitive1 test
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy 5, nonphotosensitive1 test
  • Trichothiodystrophy 6, nonphotosensitive1 test
  • Trichothiodystrophy, nonphotosensitive 11 test
  • Trichotillomania1 test
  • Triglyceride storage disease with ichthyosis2 tests
  • Trigonocephaly 14 tests
  • Trigonocephaly 22 tests
  • Triosephosphate isomerase deficiency2 tests
  • Tritanopia1 test
  • Tropical calcific pancreatitis4 tests
  • Troyer syndrome1 test
  • Trypsinogen deficiency2 tests
  • Tuberous sclerosis 14 tests
  • Tuberous sclerosis 25 tests
  • Tumor susceptibility linked to germline BAP1 mutations2 tests
  • Tumoral calcinosis, familial, normophosphatemic1 test
  • Turcot syndrome15 tests
  • Type 2 diabetes mellitus37 tests
  • Type I complement component 8 deficiency2 tests
  • Type II complement component 8 deficiency2 tests
  • Tyrosinase-negative oculocutaneous albinism2 tests
  • Tyrosinase-positive oculocutaneous albinism3 tests
  • Tyrosinemia type 32 tests
  • Tyrosinemia type I2 tests
  • Tyrosinemia type II2 tests
  • UDPglucose-4-epimerase deficiency2 tests
  • Ullrich congenital muscular dystrophy 14 tests
  • Ullrich congenital muscular dystrophy 23 tests
  • Ulnar-mammary syndrome2 tests
  • Unverricht-Lundborg syndrome2 tests
  • Upshaw-Schulman syndrome1 test
  • Uric acid concentration, serum, quantitative trait locus 11 test
  • Uric acid concentration, serum, quantitative trait locus 42 tests
  • Uric acid nephrolithiasis, susceptibility to1 test
  • Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to2 tests
  • Urinary bladder cancer4 tests
  • Urocanate hydratase deficiency2 tests
  • Urofacial syndrome 12 tests
  • Urofacial syndrome 22 tests
  • Usher syndrome type 11 test
  • Usher syndrome type 1D4 tests
  • Usher syndrome type 1F2 tests
  • Usher syndrome, type 1C1 test
  • Usher syndrome, type 1G1 test
  • Usher syndrome, type 1J1 test
  • Usher syndrome, type 2A3 tests
  • Usher syndrome, type 2C3 tests
  • Usher syndrome, type 2D1 test
  • Usher syndrome, type 3B1 test
  • Usher Syndrome, Type III1 test
  • Uterine leiomyoma1 test
  • UV-sensitive syndrome 11 test
  • UV-sensitive syndrome 21 test
  • UV-sensitive syndrome 31 test
  • VACTERL association with hydrocephalus6 tests
  • VACTERL association, X-linked, with or without hydrocephalus4 tests
  • Van Buchem disease type 22 tests
  • Van den Ende-Gupta syndrome2 tests
  • van der Woude syndrome 14 tests
  • Van der Woude syndrome 22 tests
  • Van Maldergem syndrome 12 tests
  • Van Maldergem syndrome 21 test
  • Variegate porphyria8 tests
  • Vas deferens, congenital bilateral aplasia of, X-linked1 test
  • Vascular malformation, primary intraosseous1 test
  • Ventricular fibrillation, paroxysmal familial, 21 test
  • Ventricular septal defect 14 tests
  • Ventricular septal defect 22 tests
  • Ventricular septal defect 34 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 21 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 31 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 41 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1 test
  • Ventriculomegaly with cystic kidney disease2 tests
  • Verheij syndrome2 tests
  • Vertical talus, congenital2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency4 tests
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Vesicoureteral reflux 82 tests
  • Vici syndrome2 tests
  • Visceral heterotaxy 5, autosomal4 tests
  • Visceral myopathy1 test
  • Vitamin b12 plasma level quantitative trait locus 13 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblA2 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblB2 tests
  • Vitamin d hydroxylation-deficient rickets, type 1b1 test
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitamin D-dependent rickets, type 12 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, 11 test
  • Vitamin K-dependent clotting factors, combined deficiency of, 21 test
  • Vitelliform macular dystrophy type 22 tests
  • Vitiligo-associated multiple autoimmune disease susceptibility 11 test
  • Vitreoretinochoroidopathy4 tests
  • Vitreoretinopathy, neovascular inflammatory1 test
  • Vohwinkel syndrome, variant form2 tests
  • Von Hippel-Lindau syndrome3 tests
  • von Willebrand disease type 12 tests
  • von Willebrand disease type 22 tests
  • Von Willebrand disease, recessive form2 tests
  • Waardenburg syndrome type 14 tests
  • Waardenburg syndrome type 2A4 tests
  • Waardenburg syndrome type 2D4 tests
  • Waardenburg syndrome type 2E2 tests
  • Waardenburg syndrome type 34 tests
  • Waardenburg syndrome type 4A4 tests
  • Waardenburg syndrome type 4B4 tests
  • Waardenburg syndrome type 4C2 tests
  • Wagner syndrome2 tests
  • Warburg micro syndrome 12 tests
  • Warburg micro syndrome 22 tests
  • Warburg micro syndrome 32 tests
  • Warburg micro syndrome 42 tests
  • Warfarin response11 tests
  • Warsaw breakage syndrome2 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis6 tests
  • Weaver syndrome2 tests
  • Webb-Dattani syndrome2 tests
  • Weill-Marchesani syndrome 12 tests
  • Weill-Marchesani syndrome 24 tests
  • Weill-Marchesani syndrome 32 tests
  • Weill-Marchesani syndrome 42 tests
  • Welander distal myopathy2 tests
  • Werdnig-Hoffmann disease4 tests
  • Werner syndrome2 tests
  • West nile virus, susceptibility to2 tests
  • White sponge nevus 11 test
  • White sponge nevus 21 test
  • White-sutton syndrome2 tests
  • Wieacker-Wolff syndrome2 tests
  • Wiedemann-Steiner syndrome4 tests
  • Williams syndrome4 tests
  • Williams-Beuren region duplication syndrome2 tests
  • Wilms tumor 13 tests
  • Wilms tumor 22 tests
  • Wilms tumor 51 test
  • Wilms tumor 62 tests
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome2 tests
  • Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome2 tests
  • Wilson disease2 tests
  • Wilson-Turner X-linked mental retardation syndrome1 test
  • Wiskott-Aldrich syndrome2 tests
  • Wiskott-Aldrich syndrome 22 tests
  • Witteveen-kolk syndrome2 tests
  • Wolcott-Rallison dysplasia2 tests
  • Wolff-Parkinson-White pattern1 test
  • Wolfram syndrome 12 tests
  • Wolfram syndrome 21 test
  • Wolfram-like syndrome, autosomal dominant2 tests
  • Woolly hair, autosomal dominant1 test
  • Worth disease6 tests
  • Wrinkly skin syndrome1 test
  • X inactivation, familial skewed, 11 test
  • X-linked agammaglobulinemia2 tests
  • X-linked agammaglobulinemia with growth hormone deficiency6 tests
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked cone-rod dystrophy 31 test
  • X-linked dystonia-parkinsonism1 test
  • X-linked hydrocephalus syndrome6 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency4 tests
  • X-linked intellectual disability-hypotonic face syndrome4 tests
  • X-Linked Mental Retardation 412 tests
  • X-Linked mental retardation 902 tests
  • X-linked mental retardation with marfanoid habitus syndrome3 tests
  • X-linked myopathy with excessive autophagy2 tests
  • X-linked recessive nephrolithiasis with renal failure1 test
  • X-linked severe combined immunodeficiency2 tests
  • X-linked severe congenital neutropenia2 tests
  • X-linked sideroblastic anemia with ataxia2 tests
  • X-linked spondyloepimetaphyseal dysplasia2 tests
  • Xanthinuria type II2 tests
  • Xeroderma pigmentosum group A2 tests
  • Xeroderma pigmentosum variant type2 tests
  • Xeroderma pigmentosum, complementation group b2 tests
  • Xeroderma pigmentosum, group C2 tests
  • Xeroderma pigmentosum, group D2 tests
  • Xeroderma pigmentosum, group E2 tests
  • Xeroderma pigmentosum, group F4 tests
  • Xeroderma pigmentosum, group G4 tests
  • XFE progeroid syndrome2 tests
  • Xia-Gibbs syndrome2 tests
  • Yao syndrome2 tests
  • You-Hoover-Fong syndrome3 tests
  • Yunis-Varon syndrome2 tests
  • Zimmermann-Laband syndrome 12 tests
  • Zimmermann-Laband syndrome 22 tests
  • Zinc deficiency, transient neonatal1 test
  • ZNF711-Related X-linked Mental Retardation2 tests
  • Zonular pulverulent cataract 31 test
  • ZTTK syndrome3 tests

List of services

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

List of certifications/licenses

Certifications

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

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

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