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

CEN4GEN Institute for Genomics and Molecular Diagnostics

GTR Lab ID: 506436, Last updated:2020-12-23

Personnel

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

Conditions and tests

  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3-M syndrome1 test
  • 3-Methylglutaconic aciduria type 11 test
  • 3-Methylglutaconic aciduria type 23 tests
  • 3-Methylglutaconic aciduria type 31 test
  • 3-methylglutaconic aciduria type 91 test
  • 3-methylglutaconic aciduria type V1 test
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia1 test
  • 3-methylglutaconic aciduria, type VIII1 test
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 3MC syndrome 31 test
  • 46,XY disorder of sex development1 test
  • 46,XY sex reversal 81 test
  • 46,XY sex reversal 91 test
  • 46,XY sex reversal, type 11 test
  • 46,XY sex reversal, type 31 test
  • 46,XY sex reversal, type 51 test
  • 46,XY sex reversal, type 61 test
  • 46,XY sex reversal, type 72 tests
  • 46XY sex reversal 2, dosage-sensitive1 test
  • Aarskog syndrome1 test
  • Abdominal obesity-metabolic syndrome 31 test
  • Achondrogenesis type II1 test
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB1 test
  • Acne inversa, familial, 21 test
  • Acne inversa, familial, 31 test
  • Acro-dermato-ungual-lacrimal-tooth (adult) syndrome1 test
  • Acrocallosal syndrome1 test
  • Acrodysostosis 1 with or without hormone resistance1 test
  • Acrodysostosis 2, with or without hormone resistance1 test
  • Acute lymphoid leukemia1 test
  • Acyl-CoA dehydrogenase family, member 9, deficiency of1 test
  • Adenomas, multiple colorectal1 test
  • Adenomatous polyposis coli, attenuated1 test
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1 test
  • Advanced sleep phase syndrome, familial, 21 test
  • Advanced sleep phase syndrome, familial, 31 test
  • Agammaglobulinemia 2, autosomal recessive1 test
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 5, autosomal dominant1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Agammaglobulinemia 8, autosomal dominant1 test
  • Age-related macular degeneration1 test
  • Age-related macular degeneration 11 test
  • Age-related macular degeneration 111 test
  • Age-related macular degeneration 121 test
  • Age-related macular degeneration 141 test
  • Age-related macular degeneration 21 test
  • Age-related macular degeneration 31 test
  • Age-related macular degeneration 41 test
  • Age-related macular degeneration 51 test
  • Age-related macular degeneration 61 test
  • Age-related macular degeneration 71 test
  • Age-related macular degeneration 91 test
  • Agenesis of the corpus callosum with peripheral neuropathy2 tests
  • Albinism, oculocutaneous, type VI1 test
  • Albinism, oculocutaneous, type VII1 test
  • aldo-keto reductase deficiency1 test
  • ALG1-CDG1 test
  • ALG12-congenital disorder of glycosylation1 test
  • ALG2-CDG1 test
  • ALG3-CDG1 test
  • ALG8-CDG1 test
  • ALG9 congenital disorder of glycosylation1 test
  • Allan-Herndon-Dudley syndrome1 test
  • Alopecia universalis1 test
  • Alopecia-intellectual disability syndrome1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha-B crystallinopathy1 test
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 21 test
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amelogenesis imperfecta type 3B1 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, type 1E1 test
  • Amelogenesis imperfecta, type 3c1 test
  • Amelogenesis imperfecta, type IA1 test
  • Amelogenesis imperfecta, type IC1 test
  • Amelogenesis imperfecta, type IF1 test
  • Amelogenesis imperfecta, type IH1 test
  • Amelogenesis imperfecta, type IIA21 test
  • Amelogenesis imperfecta, type IIA31 test
  • Amelogenesis imperfecta, type IJ1 test
  • Amelogenesis imperfecta, type IV1 test
  • Amish lethal microcephaly1 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyloidosis, primary localized cutaneous, 31 test
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic lateral sclerosis 10, with or without FTD1 test
  • Amyotrophic lateral sclerosis 132 tests
  • Amyotrophic lateral sclerosis 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 172 tests
  • 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 11 test
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 121 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 51 test
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic lateral sclerosis, susceptibility to1 test
  • Amyotrophic lateral sclerosis, susceptibility to, 241 test
  • Amyotrophic lateral sclerosis, susceptibility to, 251 test
  • Amyotrophy, hereditary neuralgic1 test
  • Amytrophic lateral sclerosis 231 test
  • Anauxetic dysplasia 11 test
  • Anauxetic dysplasia 21 test
  • Andersen Tawil syndrome1 test
  • Androgen resistance syndrome1 test
  • Anemia without thromobocytopenia, X-linked1 test
  • Anemia, hypochromic microcytic, with iron overload 11 test
  • Anemia, sideroblastic, 11 test
  • Anemia, sideroblastic, 2, pyridoxine-refractory1 test
  • Anemia, sideroblastic, 41 test
  • Aniridia 21 test
  • Aniridia 31 test
  • Anonychia1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
  • ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES1 test
  • Anterior segment dysgenesis 2, multiple subtypes1 test
  • Anterior segment dysgenesis 31 test
  • Anterior segment dysgenesis 41 test
  • ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES1 test
  • Anterior segment dysgenesis 6, multiple subtypes1 test
  • Anterior segment dysgenesis 7, with sclerocornea1 test
  • Anterior segment dysgenesis 81 test
  • Antithrombin III deficiency1 test
  • Antley-Bixley syndrome with disordered steroidogenesis1 test
  • Aortic aneurysm, familial thoracic 101 test
  • Aortic aneurysm, familial thoracic 11, susceptibility to1 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic aneurysm, familial thoracic 91 test
  • Aortic valve disease 11 test
  • Aortic valve disease 21 test
  • Aplastic anemia1 test
  • Arboleda-Tham syndrome1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 101 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 111 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 121 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 51 test
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair1 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • 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, 12 tests
  • Arthrogryposis, distal, type 2A (Freeman-Sheldon)1 test
  • Arthrogryposis, distal, type 2B21 test
  • Arthrogryposis, distal, type 2B3 (Sheldon-Hall)1 test
  • Arthrogryposis, distal, type 2B41 test
  • Arthrogryposis, renal dysfunction, and cholestasis 11 test
  • Arthrogryposis, renal dysfunction, and cholestasis 21 test
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Arts syndrome1 test
  • Asperger syndrome X-linked 11 test
  • Asperger syndrome X-linked 21 test
  • Asphyxiating thoracic dystrophy 21 test
  • Asphyxiating thoracic dystrophy 41 test
  • Asphyxiating thoracic dystrophy 51 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-pancytopenia syndrome1 test
  • Ataxia-telangiectasia-like disorder 11 test
  • Ataxia-telangiectasia-like disorder 21 test
  • Ateleiotic dwarfism1 test
  • Atelosteogenesis type 12 tests
  • Atelosteogenesis type II1 test
  • Atelosteogenesis type III2 tests
  • Atrial fibrillation 151 test
  • Atrial fibrillation, familial, 101 test
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 141 test
  • Atrial fibrillation, familial, 162 tests
  • Atrial fibrillation, familial, 172 tests
  • Atrial fibrillation, familial, 181 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 91 test
  • Atrial septal defect 21 test
  • Atrial septal defect 31 test
  • Atrial septal defect 41 test
  • Atrial septal defect 51 test
  • Atrial septal defect 61 test
  • Atrial septal defect 7 with or without atrioventricular conduction defects1 test
  • Atrial septal defect 81 test
  • Atrial septal defect 91 test
  • Atrioventricular septal defect 21 test
  • Atrioventricular septal defect 31 test
  • Atrioventricular septal defect 41 test
  • Atrioventricular septal defect 51 test
  • Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
  • Atrophia bulborum hereditaria2 tests
  • Atypical hemolytic-uremic syndrome 11 test
  • Atypical hemolytic-uremic syndrome 21 test
  • Atypical hemolytic-uremic syndrome 31 test
  • Atypical hemolytic-uremic syndrome 41 test
  • Atypical hemolytic-uremic syndrome 51 test
  • Atypical hemolytic-uremic syndrome 61 test
  • Atypical mycobacteriosis, familial, X-linked 21 test
  • Auditory neuropathy, autosomal dominant, 11 test
  • Auditory neuropathy, autosomal recessive, 12 tests
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 31 test
  • Autism 51 test
  • Autism susceptibility 151 test
  • Autism susceptibility 161 test
  • Autism susceptibility 171 test
  • Autism susceptibility, X-linked 11 test
  • Autism susceptibility, X-linked 21 test
  • Autism susceptibility, X-linked 31 test
  • Autism, susceptibility to, 181 test
  • Autism, susceptibility to, 191 test
  • Autism, susceptibility to, X-linked 41 test
  • Autism, susceptibility to, X-linked 51 test
  • Autism, susceptibility to, X-linked 61 test
  • Autoimmune disease, multisystem, infantile-onset, 11 test
  • Autoimmune disease, multisystem, infantile-onset, 21 test
  • Autosomal dominant hypocalcemia1 test
  • Autosomal dominant hypophosphatemic rickets1 test
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant medullary cystic kidney disease with hyperuricemia2 tests
  • Autosomal dominant nonsyndromic deafness 171 test
  • Autosomal dominant nonsyndromic deafness 221 test
  • Autosomal dominant nonsyndromic deafness 2A1 test
  • Autosomal dominant nonsyndromic deafness 61 test
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant osteopetrosis 11 test
  • Autosomal dominant osteopetrosis 21 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 21 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 31 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 41 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 51 test
  • Autosomal dominant striatal neurodegeneration1 test
  • Autosomal dominant torsion dystonia 41 test
  • Autosomal recessive agammaglobulinemia 11 test
  • Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
  • Autosomal recessive congenital ichthyosis 11 test
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 21 test
  • Autosomal recessive congenital ichthyosis 31 test
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 51 test
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive congenital ichthyosis 81 test
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 1B2 tests
  • Autosomal recessive cutis laxa type 2B1 test
  • Autosomal recessive cutis laxa type 2C1 test
  • Autosomal recessive cutis laxa type 2D1 test
  • Autosomal recessive cutis laxa type 3B1 test
  • Autosomal recessive cutis laxa type IA1 test
  • Autosomal recessive DOPA responsive dystonia3 tests
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive osteopetrosis 11 test
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 41 test
  • Autosomal recessive osteopetrosis 61 test
  • Autosomal recessive osteopetrosis 71 test
  • Autosomal recessive woolly hair 1, with or without hypotrichosis1 test
  • Avascular necrosis of femoral head, primary, 11 test
  • Avascular necrosis of femoral head, primary, 21 test
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 31 test
  • Azoospermia1 test
  • Azorean disease2 tests
  • B4GALT1-CDG1 test
  • Baller-Gerold syndrome1 test
  • BAP1 Cancer Syndrome1 test
  • Baraitser-Winter syndrome1 test
  • Baraitser-Winter syndrome 11 test
  • Baraitser-Winter Syndrome 21 test
  • Bardet-Biedl syndrome 11 test
  • Bardet-Biedl syndrome 1, modifier of1 test
  • Bardet-Biedl syndrome 101 test
  • Bardet-Biedl syndrome 111 test
  • Bardet-Biedl syndrome 121 test
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 141 test
  • Bardet-Biedl syndrome 14, modifier of1 test
  • Bardet-Biedl syndrome 151 test
  • Bardet-Biedl syndrome 161 test
  • Bardet-Biedl syndrome 171 test
  • Bardet-Biedl syndrome 181 test
  • Bardet-Biedl syndrome 191 test
  • Bardet-Biedl syndrome 21 test
  • Bardet-Biedl syndrome 201 test
  • Bardet-Biedl syndrome 211 test
  • Bardet-Biedl syndrome 31 test
  • Bardet-Biedl syndrome 41 test
  • Bardet-Biedl syndrome 51 test
  • Bardet-Biedl syndrome 61 test
  • Bardet-Biedl syndrome 71 test
  • Bardet-Biedl syndrome 81 test
  • Bardet-Biedl syndrome 91 test
  • Bartter disease type 4a1 test
  • Bartter syndrome type 31 test
  • Bartter syndrome, type 1, antenatal1 test
  • Bartter syndrome, type 2, antenatal1 test
  • Bartter syndrome, type 4b, digenic1 test
  • Bartter syndrome, type 5, antenatal, transient1 test
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive1 test
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Benign familial neonatal seizures4 tests
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • Bernard-Soulier syndrome type C1 test
  • Bernard-Soulier syndrome, type A1 (recessive)1 test
  • Bernard-Soulier syndrome, type B1 test
  • Bethlem myopathy 12 tests
  • Bethlem myopathy 22 tests
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bile acid synthesis defect, congenital, 31 test
  • Bile acid synthesis defect, congenital, 51 test
  • Bile acid synthesis defect, congenital, 61 test
  • Biotin-responsive basal ganglia disease2 tests
  • Birk-Barel syndrome1 test
  • Bleeding disorder, platelet-type, 16, autosomal dominant1 test
  • Bleeding disorder, platelet-type, 211 test
  • Blepharocheilodontic syndrome 11 test
  • Blepharocheilodontic syndrome 21 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
  • Blepharophimosis, ptosis, and epicanthus inversus2 tests
  • Bloom syndrome3 tests
  • Bohring-Opitz syndrome1 test
  • Bone marrow failure syndrome 11 test
  • Bone marrow failure syndrome 21 test
  • Bone marrow failure syndrome 31 test
  • Bone marrow failure syndrome 41 test
  • Bone marrow failure syndrome 51 test
  • Boomerang dysplasia1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Brain small vessel disease 31 test
  • Brain small vessel disease with hemorrhage1 test
  • Brain tumor-polyposis syndrome 21 test
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome 11 test
  • Branchiootorenal (BOR) syndrome1 test
  • Branchiootorenal Spectrum Disorders1 test
  • Breast neoplasm1 test
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Brittle cornea syndrome 12 tests
  • Brittle cornea syndrome 22 tests
  • Bronchiectasis with or without elevated sweat chloride 11 test
  • Bronchiectasis with or without elevated sweat chloride 1, modifier of1 test
  • Bronchiectasis with or without elevated sweat chloride 21 test
  • Bronchiectasis with or without elevated sweat chloride 31 test
  • Brown-Vialetto-Van Laere syndrome1 test
  • Brown-Vialetto-Van Laere syndrome 11 test
  • Brown-Vialetto-Van Laere syndrome 21 test
  • Brugada syndrome 11 test
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 51 test
  • Brugada syndrome 61 test
  • Brugada syndrome 72 tests
  • Brugada syndrome 81 test
  • Brugada syndrome 91 test
  • Burn-McKeown syndrome1 test
  • Camptomelic dysplasia1 test
  • Candidiasis, familial, 2, autosomal recessive1 test
  • Candidiasis, familial, 4, autosomal recessive1 test
  • Candidiasis, familial, 6, autosomal dominant1 test
  • Candidiasis, familial, 81 test
  • Candidiasis, familial, 91 test
  • Cap myopathy 11 test
  • Cap myopathy 21 test
  • Capillary malformation-arteriovenous malformation 13 tests
  • Capillary malformation-arteriovenous malformation 21 test
  • CARASIL syndrome1 test
  • Cardiac arrhythmia, ankyrin B-related1 test
  • Cardiac conduction defect, nonspecific1 test
  • Cardiomyopathy1 test
  • Cardiomyopathy, dilated, 1AA, with or without LVNC2 tests
  • Cardiomyopathy, dilated, 1C, with or without LVNC3 tests
  • Cardiomyopathy, dilated, 1NN1 test
  • Cardiomyopathy, dilated, 1u1 test
  • Cardiomyopathy, dilated, 2b1 test
  • Cardiomyopathy, familial hypertrophic 271 test
  • Cardiomyopathy, familial restrictive, 43 tests
  • Cardiomyopathy, familial restrictive, 52 tests
  • Cardiomyopathy, hypertrophic, 11 test
  • Cardiomyopathy, hypertrophic, 1, digenic1 test
  • Cardiomyopathy, hypertrophic, 101 test
  • Cardiomyopathy, hypertrophic, 111 test
  • Cardiomyopathy, hypertrophic, 121 test
  • Cardiomyopathy, hypertrophic, 141 test
  • Cardiomyopathy, hypertrophic, 21 test
  • Cardiomyopathy, hypertrophic, 201 test
  • Cardiomyopathy, hypertrophic, 223 tests
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC2 tests
  • Cardiomyopathy, hypertrophic, 243 tests
  • Cardiomyopathy, hypertrophic, 41 test
  • Carpenter syndrome1 test
  • Carpenter syndrome 21 test
  • Cataract 11 test
  • Cataract 111 test
  • Cataract 11, syndromic, autosomal recessive1 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 221 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 38, autosomal recessive1 test
  • Cataract 39, multiple types, autosomal dominant1 test
  • Cataract 41 test
  • Cataract 40, X-linked1 test
  • Cataract 411 test
  • Cataract 421 test
  • Cataract 431 test
  • Cataract 441 test
  • Cataract 451 test
  • Cataract 47, juvenile, with microcornea1 test
  • Cataract 481 test
  • Cataract 5 multiple types1 test
  • Cataract 6, multiple types1 test
  • Cataract 9, multiple types1 test
  • Cataract Hutterite type1 test
  • Cataract with late-onset corneal dystrophy1 test
  • Cataract, autosomal recessive congenital 41 test
  • Cataract, congenital nuclear, autosomal recessive 31 test
  • Cataract, congenital zonular, with sutural opacities1 test
  • Catecholaminergic polymorphic ventricular tachycardia type 11 test
  • CBX2-related complete gonadal dysgenesis1 test
  • CCDC115-CDG1 test
  • Celiac disease1 test
  • Celiac disease 31 test
  • Celiac disease 41 test
  • Celiac disease, susceptibility to1 test
  • Centronuclear myopathy, autosomal, modifier of1 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 31 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41 test
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 11 test
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 11 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
  • Cerebral palsy, spastic quadriplegic, 11 test
  • Cerebral palsy, spastic quadriplegic, 21 test
  • Cerebral palsy, spastic quadriplegic, 31 test
  • Cerebrofrontofacial syndrome type 11 test
  • Cerebrofrontofacial syndrome type 31 test
  • Cerebrooculofacioskeletal syndrome 11 test
  • Cerebrooculofacioskeletal syndrome 21 test
  • Cerebrooculofacioskeletal syndrome 31 test
  • Cerebrooculofacioskeletal syndrome 41 test
  • Cerebroretinal microangiopathy with calcifications and cysts1 test
  • Cerebroretinal microangiopathy with calcifications and cysts 21 test
  • Ceroid lipofuscinosis neuronal 21 test
  • Ceroid lipofuscinosis, neuronal, 111 test
  • Ceroid lipofuscinosis, neuronal, 131 test
  • Ceroid lipofuscinosis, neuronal, 4, Parry type1 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset1 test
  • Charcot-Marie-Tooth disease and deafness1 test
  • Charcot-Marie-Tooth disease axonal type 2C2 tests
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2K1 test
  • Charcot-Marie-Tooth disease dominant intermediate d1 test
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2D1 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2P1 test
  • Charcot-Marie-Tooth disease, axonal type 2V1 test
  • Charcot-Marie-Tooth disease, axonal type 2X1 test
  • Charcot-Marie-Tooth disease, axonal, type 201 test
  • Charcot-Marie-Tooth disease, axonal, type 2A2B1 test
  • Charcot-Marie-Tooth disease, axonal, type 2CC1 test
  • Charcot-marie-tooth disease, axonal, type 2DD1 test
  • Charcot-Marie-Tooth disease, axonal, type 2EE1 test
  • Charcot-Marie-Tooth disease, axonal, type 2Q1 test
  • Charcot-Marie-Tooth disease, axonal, type 2R1 test
  • Charcot-Marie-Tooth disease, axonal, type 2S1 test
  • Charcot-Marie-Tooth disease, axonal, type 2T1 test
  • Charcot-Marie-Tooth disease, axonal, type 2u1 test
  • Charcot-Marie-Tooth disease, axonal, type 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 recessive1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1d1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1G1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 4F1 test
  • Charcot-Marie-Tooth disease, dominant intermediate B1 test
  • 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, dominant intermediate G1 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 1a, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, type 1C1 test
  • Charcot-Marie-Tooth disease, type 21 test
  • Charcot-Marie-Tooth disease, type 2A11 test
  • Charcot-Marie-Tooth disease, type 2A2A1 test
  • Charcot-Marie-Tooth disease, type 2L1 test
  • Charcot-Marie-Tooth disease, type 2M1 test
  • Charcot-Marie-Tooth disease, type 2N1 test
  • Charcot-Marie-Tooth disease, type 4A1 test
  • Charcot-Marie-Tooth disease, type 4B11 test
  • Charcot-Marie-Tooth disease, type 4B21 test
  • Charcot-Marie-Tooth disease, type 4B31 test
  • Charcot-Marie-Tooth disease, type 4C1 test
  • Charcot-Marie-Tooth disease, type 4D1 test
  • Charcot-Marie-Tooth disease, type 4H1 test
  • Charcot-Marie-Tooth disease, type 4J1 test
  • Charcot-Marie-Tooth disease, type 4k1 test
  • Charcot-Marie-Tooth disease, X-linked dominant, 61 test
  • Charcot-Marie-Tooth disease, X-linked recessive, type 51 test
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 11 test
  • CHARGE association1 test
  • Charlevoix-Saguenay spastic ataxia1 test
  • Chilblain lupus 11 test
  • Chilblain lupus 21 test
  • Childhood Myocerebrohepatopathy Spectrum Disorders1 test
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1 test
  • Cholestasis, benign recurrent intrahepatic 11 test
  • Cholestasis, progressive familial intrahepatic 11 test
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress1 test
  • Choroidal dystrophy, central areolar 11 test
  • Choroidal dystrophy, central areolar 21 test
  • Christianson syndrome1 test
  • Chromosome 5q14.3 deletion syndrome1 test
  • Chronic granulomatous disease due to deficiency of NCF-11 test
  • Chronic granulomatous disease due to deficiency of NCF-21 test
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA1 test
  • Chronic granulomatous disease, X-linked1 test
  • Chronic infections, due to MBL deficiency1 test
  • Chronic myelogenous leukemia, BCR-ABL1 positive1 test
  • 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, 31 test
  • 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, 371 test
  • Ciliary dyskinesia, primary, 381 test
  • Ciliary dyskinesia, primary, 391 test
  • Ciliary dyskinesia, primary, 401 test
  • Ciliary dyskinesia, primary, 411 test
  • Ciliary dyskinesia, primary, 51 test
  • Ciliary dyskinesia, primary, 61 test
  • Ciliary dyskinesia, primary, 71 test
  • Ciliary dyskinesia, primary, 91 test
  • Clark-Baraitser syndrome1 test
  • Cleft lip/palate-ectodermal dysplasia syndrome1 test
  • Coenzyme Q10 deficiency, primary1 test
  • Coenzyme Q10 deficiency, primary 11 test
  • Coenzyme Q10 deficiency, primary, 21 test
  • Coenzyme Q10 deficiency, primary, 31 test
  • Coenzyme Q10 deficiency, primary, 42 tests
  • Coenzyme Q10 deficiency, primary, 51 test
  • Coenzyme Q10 deficiency, primary, 61 test
  • Coenzyme Q10 deficiency, primary, 71 test
  • Coenzyme Q10 deficiency, primary, 81 test
  • Coffin-Siris syndrome 12 tests
  • Coffin-Siris syndrome 52 tests
  • Coffin-Siris syndrome 62 tests
  • Coffin-Siris syndrome 72 tests
  • Coffin-Siris syndrome 82 tests
  • COG1 congenital disorder of glycosylation1 test
  • COG7 congenital disorder of glycosylation1 test
  • Cold-induced sweating syndrome 11 test
  • Cold-induced sweating syndrome 21 test
  • Cole-Carpenter syndrome 11 test
  • Cole-Carpenter syndrome 21 test
  • Colorectal cancer3 tests
  • Combined immunodeficiency due to GINS1 deficiency1 test
  • Combined immunodeficiency due to ORAI1 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency1 test
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined immunodeficiency, X-linked, moderate1 test
  • Combined oxidative phosphorylation deficiency 11 test
  • Combined oxidative phosphorylation deficiency 101 test
  • Combined oxidative phosphorylation deficiency 111 test
  • Combined oxidative phosphorylation deficiency 121 test
  • Combined oxidative phosphorylation deficiency 131 test
  • Combined oxidative phosphorylation deficiency 141 test
  • Combined oxidative phosphorylation deficiency 151 test
  • Combined oxidative phosphorylation deficiency 161 test
  • Combined oxidative phosphorylation deficiency 171 test
  • Combined oxidative phosphorylation deficiency 181 test
  • Combined oxidative phosphorylation deficiency 191 test
  • Combined oxidative phosphorylation deficiency 21 test
  • Combined oxidative phosphorylation deficiency 201 test
  • Combined oxidative phosphorylation deficiency 211 test
  • Combined oxidative phosphorylation deficiency 221 test
  • Combined oxidative phosphorylation deficiency 231 test
  • Combined oxidative phosphorylation deficiency 241 test
  • Combined oxidative phosphorylation deficiency 251 test
  • Combined oxidative phosphorylation deficiency 261 test
  • Combined oxidative phosphorylation deficiency 271 test
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 291 test
  • Combined oxidative phosphorylation deficiency 31 test
  • Combined oxidative phosphorylation deficiency 301 test
  • Combined oxidative phosphorylation deficiency 311 test
  • Combined oxidative phosphorylation deficiency 321 test
  • Combined oxidative phosphorylation deficiency 331 test
  • Combined oxidative phosphorylation deficiency 341 test
  • Combined oxidative phosphorylation deficiency 351 test
  • Combined oxidative phosphorylation deficiency 361 test
  • Combined oxidative phosphorylation deficiency 371 test
  • Combined oxidative phosphorylation deficiency 381 test
  • Combined oxidative phosphorylation deficiency 391 test
  • Combined oxidative phosphorylation deficiency 41 test
  • Combined oxidative phosphorylation deficiency 51 test
  • Combined oxidative phosphorylation deficiency 61 test
  • Combined oxidative phosphorylation deficiency 71 test
  • Combined oxidative phosphorylation deficiency 81 test
  • Combined oxidative phosphorylation deficiency 91 test
  • COMMON Syndrome1 test
  • Common variable immunodeficiency 11 test
  • Common variable immunodeficiency 101 test
  • Common variable immunodeficiency 111 test
  • Common variable immunodeficiency 21 test
  • Common variable immunodeficiency 31 test
  • Common variable immunodeficiency 41 test
  • Common variable immunodeficiency 51 test
  • Common variable immunodeficiency 61 test
  • Common variable immunodeficiency 71 test
  • Common variable immunodeficiency 8, with autoimmunity1 test
  • Cone dystrophy 31 test
  • Cone dystrophy 41 test
  • Cone monochromatism1 test
  • Cone-rod dystrophy1 test
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 162 tests
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 21 test
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 211 test
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 61 test
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy and hearing loss 11 test
  • Cone-rod dystrophy and hearing loss 21 test
  • Cone-rod dystrophy, X-linked 11 test
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital aniridia1 test
  • Congenital anomalies of kidney and urinary tract 1, susceptibility to1 test
  • Congenital anomalies of kidney and urinary tract 21 test
  • Congenital anomalies of kidney and urinary tract 31 test
  • Congenital bilateral absence of the vas deferens1 test
  • Congenital bilateral absence of vas deferens, X-linked1 test
  • Congenital bile acid synthesis defect 11 test
  • Congenital bile acid synthesis defect 21 test
  • Congenital bile acid synthesis defect 41 test
  • Congenital cerebellar hypoplasia1 test
  • Congenital contractural arachnodactyly1 test
  • Congenital defect of folate absorption1 test
  • Congenital disorder of glycosylation type 1C1 test
  • Congenital disorder of glycosylation type 1E1 test
  • Congenital disorder of glycosylation type 1M1 test
  • Congenital disorder of glycosylation type 1N1 test
  • Congenital disorder of glycosylation type 1O1 test
  • Congenital disorder of glycosylation type 1P1 test
  • Congenital disorder of glycosylation type 1Q1 test
  • Congenital disorder of glycosylation type 1t1 test
  • Congenital disorder of glycosylation type 1u1 test
  • Congenital disorder of glycosylation type 1w1 test
  • Congenital disorder of glycosylation type 1x1 test
  • Congenital disorder of glycosylation type 1y1 test
  • Congenital disorder of glycosylation type 2B1 test
  • Congenital disorder of glycosylation type 2F1 test
  • Congenital disorder of glycosylation type 2H1 test
  • Congenital disorder of glycosylation type 2i1 test
  • Congenital disorder of glycosylation type 2J1 test
  • Congenital disorder of glycosylation type 2k1 test
  • Congenital disorder of glycosylation type 2L1 test
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation with defective fucosylation 11 test
  • Congenital disorder of glycosylation with defective fucosylation 21 test
  • Congenital disorder of glycosylation, type Ia1 test
  • Congenital disorder of glycosylation, type Iaa1 test
  • Congenital disorder of glycosylation, type Ibb1 test
  • Congenital disorder of glycosylation, type IIa1 test
  • Congenital disorder of glycosylation, type IIq1 test
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital dyserythropoietic anemia, type IV1 test
  • Congenital generalized lipodystrophy1 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital heart defects, nonsyndromic, 1, X-linked1 test
  • Congenital hydrocephalus 11 test
  • Congenital hypomyelinating neuropathy 21 test
  • Congenital hypomyelinating neuropathy 31 test
  • Congenital microvillous atrophy1 test
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A41 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A61 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A71 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B11 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B31 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
  • Congenital myasthenic syndrome 1B, fast-channel1 test
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myasthenic syndrome, acetazolamide-responsive1 test
  • Congenital myopathy with excess of thin filaments1 test
  • Congenital neutropenia3 tests
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital stationary night blindness, autosomal dominant 11 test
  • Congenital stationary night blindness, autosomal dominant 21 test
  • Congenital stationary night blindness, autosomal dominant 31 test
  • Contractures, pterygia, and variable skeletal fusions syndrome 1A1 test
  • Cornea plana 21 test
  • Corneal dystrophy, Fuchs endothelial 11 test
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, Fuchs endothelial, 81 test
  • Corneal dystrophy, posterior polymorphous 41 test
  • Corneal dystrophy, posterior polymorphous, 21 test
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia1 test
  • Cortical dysplasia, complex, with other brain malformations 11 test
  • Cortical dysplasia, complex, with other brain malformations 21 test
  • Cortical dysplasia, complex, with other brain malformations 31 test
  • Cortical dysplasia, complex, with other brain malformations 41 test
  • Cortical dysplasia, complex, with other brain malformations 51 test
  • Cortical dysplasia, complex, with other brain malformations 61 test
  • Cortical dysplasia, complex, with other brain malformations 91 test
  • Corticobasal degeneration1 test
  • Cortisone reductase deficiency 11 test
  • Cortisone reductase deficiency 21 test
  • COVID-194 tests
  • Cowchock syndrome1 test
  • Cowden syndrome3 tests
  • Cowden syndrome 11 test
  • Cowden syndrome 41 test
  • Cowden syndrome 51 test
  • Cowden syndrome 61 test
  • Cowden syndrome 71 test
  • Cranioosteoarthropathy1 test
  • Craniosynostosis 12 tests
  • Craniosynostosis 21 test
  • Craniosynostosis 31 test
  • Craniosynostosis 5, susceptibility to1 test
  • Craniosynostosis 61 test
  • CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO1 test
  • Creatine transporter deficiency1 test
  • Crigler-Najjar syndrome type 11 test
  • Crigler-Najjar syndrome, type II1 test
  • Crohn disease-associated growth failure, susceptibility to1 test
  • Crouzon syndrome1 test
  • Crouzon syndrome with acanthosis nigricans2 tests
  • Cutaneous malignant melanoma 21 test
  • Cutaneous malignant melanoma 31 test
  • Cutaneous malignant melanoma 51 test
  • Cutaneous malignant melanoma 61 test
  • Cutaneous malignant melanoma 81 test
  • Cutaneous malignant melanoma 91 test
  • Cutis laxa2 tests
  • Cutis laxa with osteodystrophy2 tests
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1 test
  • Cutis laxa, autosomal dominant1 test
  • Cutis laxa, autosomal dominant 21 test
  • Cutis laxa, autosomal dominant 31 test
  • Cutis laxa, autosomal recessive IIIA1 test
  • Cyclical neutropenia1 test
  • D-2-hydroxyglutaric aciduria1 test
  • D-2-hydroxyglutaric aciduria 21 test
  • de la Chapelle dysplasia1 test
  • Deafness with hypertrophic cardiomyopathy, autosomal dominant, type 221 test
  • Deafness, autosomal dominant 11 test
  • Deafness, autosomal dominant 101 test
  • Deafness, autosomal dominant 111 test
  • Deafness, autosomal dominant 121 test
  • Deafness, autosomal dominant 131 test
  • 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 2b1 test
  • Deafness, autosomal dominant 34, with or without inflammation1 test
  • Deafness, autosomal dominant 361 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 561 test
  • Deafness, autosomal dominant 6/14/381 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 69, unilateral or asymmetric1 test
  • Deafness, autosomal dominant 701 test
  • Deafness, autosomal dominant 711 test
  • Deafness, autosomal dominant 721 test
  • Deafness, autosomal dominant 731 test
  • Deafness, autosomal dominant 741 test
  • Deafness, autosomal dominant 92 tests
  • Deafness, autosomal recessive 1001 test
  • Deafness, autosomal recessive 1011 test
  • Deafness, autosomal recessive 1021 test
  • Deafness, autosomal recessive 1031 test
  • Deafness, autosomal recessive 1041 test
  • Deafness, autosomal recessive 1061 test
  • Deafness, autosomal recessive 1071 test
  • Deafness, autosomal recessive 1081 test
  • Deafness, autosomal recessive 1091 test
  • Deafness, autosomal recessive 1101 test
  • Deafness, autosomal recessive 1111 test
  • Deafness, autosomal recessive 1121 test
  • Deafness, autosomal recessive 1131 test
  • Deafness, autosomal recessive 1141 test
  • Deafness, autosomal recessive 1151 test
  • Deafness, autosomal recessive 121 test
  • Deafness, autosomal recessive 12, modifier of1 test
  • Deafness, autosomal recessive 151 test
  • Deafness, autosomal recessive 161 test
  • Deafness, autosomal recessive 181 test
  • Deafness, autosomal recessive 18b1 test
  • Deafness, autosomal recessive 1A1 test
  • Deafness, autosomal recessive 1b1 test
  • Deafness, autosomal recessive 21 test
  • Deafness, autosomal recessive 211 test
  • Deafness, autosomal recessive 221 test
  • Deafness, autosomal recessive 231 test
  • Deafness, autosomal recessive 241 test
  • Deafness, autosomal recessive 251 test
  • Deafness, autosomal recessive 261 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 321 test
  • Deafness, autosomal recessive 351 test
  • Deafness, autosomal recessive 361 test
  • Deafness, autosomal recessive 371 test
  • Deafness, autosomal recessive 391 test
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1 test
  • 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 571 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 862 tests
  • Deafness, autosomal recessive 881 test
  • Deafness, autosomal recessive 891 test
  • Deafness, autosomal recessive 91 test
  • Deafness, autosomal recessive 911 test
  • Deafness, autosomal recessive 931 test
  • Deafness, autosomal recessive 941 test
  • Deafness, autosomal recessive 971 test
  • Deafness, autosomal recessive 981 test
  • Deafness, digenic, GJB2/GJB31 test
  • Deafness, digenic, GJB2/GJB61 test
  • Deafness, X-linked 11 test
  • Deafness, X-linked 21 test
  • Deafness, X-linked 41 test
  • Deafness, X-linked 52 tests
  • Deafness, X-linked 61 test
  • Deafness, Y-linked 21 test
  • Deep venous thrombosis, protection against1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of steroid 17-alpha-monooxygenase1 test
  • Dejerine-Sottas disease1 test
  • Dementia with epilepsy1 test
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1 test
  • Dermatitis, atopic, 2, susceptibility to1 test
  • Dermatitis, atopic, susceptibility to, 11 test
  • Desbuquois dysplasia 11 test
  • Desbuquois dysplasia 21 test
  • Developmental and epileptic encephalopathy 911 test
  • Developmental and epileptic encephalopathy 921 test
  • Developmental and epileptic encephalopathy, 251 test
  • Developmental and epileptic encephalopathy, 561 test
  • Developmental and epileptic encephalopathy, 571 test
  • Developmental and epileptic encephalopathy, 581 test
  • Developmental and epileptic encephalopathy, 601 test
  • Developmental and epileptic encephalopathy, 631 test
  • Developmental and epileptic encephalopathy, 641 test
  • Developmental and epileptic encephalopathy, 651 test
  • Developmental and epileptic encephalopathy, 661 test
  • Developmental and epileptic encephalopathy, 671 test
  • Developmental and epileptic encephalopathy, 681 test
  • Developmental and epileptic encephalopathy, 691 test
  • Developmental and epileptic encephalopathy, 701 test
  • Developmental and epileptic encephalopathy, 711 test
  • Developmental and epileptic encephalopathy, 721 test
  • Developmental and epileptic encephalopathy, 731 test
  • Developmental and epileptic encephalopathy, 741 test
  • Developmental and epileptic encephalopathy, 751 test
  • Developmental dysplasia of the hip 11 test
  • Developmental dysplasia of the hip 21 test
  • DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss1 test
  • Diamond-Blackfan anemia 11 test
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 111 test
  • Diamond-Blackfan anemia 121 test
  • Diamond-Blackfan anemia 131 test
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 161 test
  • Diamond-Blackfan anemia 171 test
  • Diamond-Blackfan anemia 181 test
  • Diamond-Blackfan anemia 191 test
  • Diamond-Blackfan anemia 201 test
  • Diamond-Blackfan anemia 31 test
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 61 test
  • Diamond-Blackfan anemia 71 test
  • Diamond-Blackfan anemia 81 test
  • Diamond-Blackfan anemia 91 test
  • Diarrhea 10, protein-losing enteropathy type1 test
  • Diarrhea 3, secretory sodium, congenital, syndromic1 test
  • Diarrhea 4, malabsorptive, congenital1 test
  • Diarrhea 5, with tufting enteropathy, congenital1 test
  • Diarrhea 61 test
  • Diarrhea 71 test
  • Diarrhea 8, secretory sodium, congenital1 test
  • Diarrhea 91 test
  • Diffuse Gastric Cancer Syndrome1 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK3 tests
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1LL2 tests
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S2 tests
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 1Y2 tests
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 3B1 test
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
  • Distal arthrogryposis type 1A1 test
  • Distal arthrogryposis type 1B1 test
  • Distal arthrogryposis type 2B1 test
  • Distal arthrogryposis type 5D1 test
  • Distal hereditary motor neuronopathy type 51 test
  • Distal myopathy with rimmed vacuoles1 test
  • DOORS syndrome1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Dowling-Degos disease 11 test
  • Dowling-Degos disease 21 test
  • Dowling-degos disease 41 test
  • DPAGT1-CDG1 test
  • Dravet syndrome, modifier of1 test
  • Duane retraction syndrome 21 test
  • Duane retraction syndrome 3 with or without deafness1 test
  • Duane-radial ray syndrome1 test
  • Dubin-Johnson syndrome1 test
  • Dursun syndrome1 test
  • Dyschromatosis universalis hereditaria 11 test
  • Dyschromatosis universalis hereditaria 31 test
  • Dyskeratosis congenita autosomal recessive 11 test
  • Dyskeratosis congenita, autosomal dominant 11 test
  • Dyskeratosis congenita, autosomal dominant 61 test
  • Dyskeratosis congenita, autosomal dominant, 21 test
  • Dyskeratosis congenita, autosomal dominant, 31 test
  • Dyskeratosis congenita, autosomal dominant, 41 test
  • Dyskeratosis congenita, autosomal recessive 21 test
  • Dyskeratosis congenita, autosomal recessive 61 test
  • Dyskeratosis congenita, autosomal recessive 71 test
  • Dyskeratosis congenita, autosomal recessive, 31 test
  • Dyskeratosis congenita, autosomal recessive, 41 test
  • Dyskeratosis congenita, autosomal recessive, 51 test
  • Dyskeratosis congenita, X-linked1 test
  • Dystonia 121 test
  • Dystonia 161 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 26, myoclonic1 test
  • Dystonia 271 test
  • Dystonia 28, childhood-onset1 test
  • Dystonia 91 test
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
  • Dystonia-1, torsion1 test
  • Early infantile epileptic encephalopathy 101 test
  • Early infantile epileptic encephalopathy 111 test
  • Early infantile epileptic encephalopathy 121 test
  • Early infantile epileptic encephalopathy 132 tests
  • Early infantile epileptic encephalopathy 141 test
  • Early infantile epileptic encephalopathy 151 test
  • Early infantile epileptic encephalopathy 162 tests
  • Early infantile epileptic encephalopathy 171 test
  • Early infantile epileptic encephalopathy 181 test
  • Early infantile epileptic encephalopathy 21 test
  • Early infantile epileptic encephalopathy 211 test
  • Early infantile epileptic encephalopathy 341 test
  • Early infantile epileptic encephalopathy 41 test
  • Early infantile epileptic encephalopathy 51 test
  • Early infantile epileptic encephalopathy 551 test
  • Early infantile epileptic encephalopathy 591 test
  • Early infantile epileptic encephalopathy 611 test
  • Early infantile epileptic encephalopathy 621 test
  • Early infantile epileptic encephalopathy 73 tests
  • Early infantile epileptic encephalopathy 81 test
  • Early infantile epileptic encephalopathy 91 test
  • Early myoclonic encephalopathy1 test
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal1 test
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type1 test
  • Ectodermal dysplasia 13, hair/tooth type1 test
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1 test
  • Ectodermal dysplasia 4, hair/nail type1 test
  • Ectodermal dysplasia 7, hair/nail type1 test
  • Ectodermal dysplasia 9, hair/nail type1 test
  • Ectodermal dysplasia and immunodeficiency 11 test
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectodermal dysplasia-syndactyly syndrome 11 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
  • Ehlers-Danlos syndrome2 tests
  • Ehlers-Danlos syndrome dermatosparaxis type1 test
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
  • Ehlers-Danlos syndrome, arthrochalasia type, 11 test
  • Ehlers-danlos syndrome, arthrochalasia type, 21 test
  • Ehlers-Danlos syndrome, cardiac valvular type1 test
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, classic-like, 11 test
  • Ehlers-Danlos syndrome, classic-like, 21 test
  • 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 41 test
  • Ellis-van Creveld syndrome1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
  • EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED1 test
  • Emery-Dreifuss muscular dystrophy 7, AD1 test
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
  • Encephalopathy with Epilepsy2 tests
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
  • Encephalopathy, acute, infection-induced, 3, suceptibility to2 tests
  • Encephalopathy, acute, infection-induced, 4, susceptibility to1 test
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 11 test
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 21 test
  • Endplate acetylcholinesterase deficiency1 test
  • Enlarged parietal foramina1 test
  • Enlarged vestibular aqueduct, digenic1 test
  • EPB42-Related Hereditary Spherocytosi1 test
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 11 test
  • Epidermodysplasia verruciformis, susceptibility to, 21 test
  • Epidermodysplasia verruciformis, susceptibility to, 31 test
  • Epidermodysplasia verruciformis, susceptibility to, 41 test
  • Epidermodysplasia verruciformis, susceptibility to, 51 test
  • Epidermolysis bullosa simplex1 test
  • Epidermolysis bullosa simplex with pyloric atresia1 test
  • Epilepsy, familial adult myoclonic 21 test
  • Epilepsy, familial adult myoclonic, 11 test
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial adult myoclonic, 61 test
  • Epilepsy, familial adult myoclonic, 71 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial focal, with variable foci 41 test
  • Epilepsy, familial temporal lobe, 51 test
  • Epilepsy, familial temporal lobe, 71 test
  • Epilepsy, familial temporal lobe, 81 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation2 tests
  • Epilepsy, idiopathic generalized 101 test
  • Epilepsy, juvenile myoclonic, susceptibility to1 test
  • Epilepsy, nocturnal frontal lobe, 51 test
  • Epilepsy, nocturnal frontal lobe, type 11 test
  • Epilepsy, nocturnal frontal lobe, type 31 test
  • Epilepsy, nocturnal frontal lobe, type 41 test
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)1 test
  • Epilepsy, progressive myoclonic 2A (Lafora)1 test
  • Epilepsy, progressive myoclonic 2B (Lafora)1 test
  • Epilepsy, progressive myoclonic 31 test
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epilepsy, progressive myoclonic 61 test
  • Epilepsy, progressive myoclonic 71 test
  • Epilepsy, progressive myoclonic 81 test
  • Epilepsy, progressive myoclonic, 101 test
  • Epilepsy, progressive myoclonic, 91 test
  • Epileptic encephalopathy, early infantile, 11 test
  • Epileptic encephalopathy, early infantile, 191 test
  • Epileptic encephalopathy, early infantile, 231 test
  • Epileptic encephalopathy, early infantile, 241 test
  • Epileptic encephalopathy, early infantile, 261 test
  • Epileptic encephalopathy, early infantile, 271 test
  • Epileptic encephalopathy, early infantile, 281 test
  • Epileptic encephalopathy, early infantile, 291 test
  • Epileptic encephalopathy, early infantile, 301 test
  • Epileptic encephalopathy, early infantile, 311 test
  • Epileptic encephalopathy, early infantile, 321 test
  • Epileptic encephalopathy, early infantile, 331 test
  • Epileptic encephalopathy, early infantile, 351 test
  • Epileptic encephalopathy, early infantile, 362 tests
  • Epileptic encephalopathy, early infantile, 371 test
  • Epileptic encephalopathy, early infantile, 381 test
  • Epileptic encephalopathy, early infantile, 401 test
  • Epileptic encephalopathy, early infantile, 411 test
  • Epileptic encephalopathy, early infantile, 421 test
  • Epileptic encephalopathy, early infantile, 431 test
  • Epileptic encephalopathy, early infantile, 441 test
  • Epileptic encephalopathy, early infantile, 451 test
  • Epileptic encephalopathy, early infantile, 461 test
  • Epileptic encephalopathy, early infantile, 471 test
  • Epileptic encephalopathy, early infantile, 481 test
  • Epileptic encephalopathy, early infantile, 491 test
  • Epileptic encephalopathy, early infantile, 501 test
  • Epileptic encephalopathy, early infantile, 511 test
  • Epileptic encephalopathy, early infantile, 521 test
  • Epileptic encephalopathy, early infantile, 531 test
  • Epileptic encephalopathy, early infantile, 541 test
  • Epileptic encephalopathy, infantile or early childhood 31 test
  • Epiphyseal dysplasia, multiple, 21 test
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy1 test
  • Epiphyseal dysplasia, multiple, 71 test
  • Episodic ataxia type 11 test
  • Episodic ataxia type 22 tests
  • Episodic ataxia, type 51 test
  • Episodic ataxia, type 61 test
  • Episodic ataxia/myokymia syndrome1 test
  • Episodic kinesigenic dyskinesia 12 tests
  • Episodic pain syndrome, familial, 21 test
  • Episodic pain syndrome, familial, 31 test
  • Erythrocytosis 6, familial1 test
  • Erythrocytosis, familial, 21 test
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythrocytosis, familial, 51 test
  • Erythrocytosis, familial, 71 test
  • Erythrokeratodermia variabilis et progressiva 11 test
  • Erythrokeratodermia variabilis et progressiva 21 test
  • Erythrokeratodermia variabilis et progressiva 31 test
  • Erythrokeratodermia variabilis et progressiva 41 test
  • Erythrokeratodermia variabilis et progressiva 51 test
  • Ethylmalonic encephalopathy2 tests
  • Exercise-induced hyperinsulinism1 test
  • Exudative retinopathy2 tests
  • Exudative vitreoretinopathy 11 test
  • Exudative vitreoretinopathy 41 test
  • Exudative vitreoretinopathy 51 test
  • Exudative vitreoretinopathy 61 test
  • Exudative vitreoretinopathy 71 test
  • Facioscapulohumeral muscular dystrophy 1a1 test
  • Factor VIII deficiency2 tests
  • Familial acne inversa 11 test
  • Familial adenomatous polyposis 12 tests
  • Familial adenomatous polyposis 31 test
  • Familial adenomatous polyposis 41 test
  • Familial advanced sleep phase syndrome 11 test
  • Familial Atypical Hemolytic-Uremic Syndrome1 test
  • Familial atypical mycobacteriosis, type 1, X-linked2 tests
  • Familial cancer of breast1 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial cold inflammatory syndrome 11 test
  • Familial colorectal cancer3 tests
  • Familial dysautonomia2 tests
  • Familial episodic pain syndrome 11 test
  • Familial exudative vitreoretinopathy1 test
  • Familial exudative vitreoretinopathy, X-linked3 tests
  • Familial febrile seizures 82 tests
  • Familial hemiplegic migraine1 test
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Familial hemophagocytic lymphohistiocytosis 11 test
  • Familial hemophagocytic lymphohistiocytosis 21 test
  • Familial hemophagocytic lymphohistiocytosis 31 test
  • Familial hemophagocytic lymphohistiocytosis 41 test
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia 11 test
  • Familial hyperinsulinism1 test
  • Familial hyperkalemic periodic paralysis1 test
  • Familial hypertrophic cardiomyopathy 11 test
  • Familial hypertrophic cardiomyopathy 131 test
  • Familial hypertrophic cardiomyopathy 151 test
  • Familial hypertrophic cardiomyopathy 161 test
  • Familial hypertrophic cardiomyopathy 171 test
  • Familial hypertrophic cardiomyopathy 181 test
  • Familial hypertrophic cardiomyopathy 31 test
  • Familial hypertrophic cardiomyopathy 61 test
  • Familial hypertrophic cardiomyopathy 71 test
  • Familial hypertrophic cardiomyopathy 81 test
  • Familial hypertrophic cardiomyopathy 91 test
  • Familial infantile myasthenia1 test
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial Mediterranean fever1 test
  • Familial pancreatic carcinoma2 tests
  • Familial partial lipodystrophy 21 test
  • Familial partial lipodystrophy 31 test
  • Familial partial lipodystrophy 41 test
  • Familial partial lipodystrophy 51 test
  • Familial partial lipodystrophy 61 test
  • Familial porphyria cutanea tarda1 test
  • Familial primary hyperparathyroidism1 test
  • Familial prostate carcinoma2 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial restrictive cardiomyopathy 11 test
  • Familial restrictive cardiomyopathy 31 test
  • Familial temporal lobe epilepsy 11 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
  • Fanconi anemia2 tests
  • Fanconi anemia, complementation group A1 test
  • Fanconi anemia, complementation group B1 test
  • Fanconi anemia, complementation group C1 test
  • Fanconi anemia, complementation group D11 test
  • Fanconi anemia, complementation group D21 test
  • Fanconi anemia, complementation group E1 test
  • Fanconi anemia, complementation group F1 test
  • Fanconi anemia, complementation group G1 test
  • Fanconi anemia, complementation group I1 test
  • Fanconi anemia, complementation group J1 test
  • Fanconi anemia, complementation group L1 test
  • Fanconi anemia, complementation group N1 test
  • Fanconi anemia, complementation group O1 test
  • Fanconi anemia, complementation group P1 test
  • Fanconi anemia, complementation group Q1 test
  • Fanconi anemia, complementation group R1 test
  • Fanconi anemia, complementation group S1 test
  • Fanconi anemia, complementation group T1 test
  • Fanconi anemia, complementation group U1 test
  • Fanconi anemia, complementation group V1 test
  • Fanconi anemia, complementation group W1 test
  • Fanconi renotubular syndrome 21 test
  • Fanconi renotubular syndrome 31 test
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
  • Fatal infantile hypertonic myofibrillar myopathy1 test
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 3a2 tests
  • Febrile seizures, familial, 3b2 tests
  • Febrile seizures, familial, 41 test
  • Feingold syndrome1 test
  • Feingold syndrome 11 test
  • Feingold syndrome 21 test
  • Fetal akinesia deformation sequence 21 test
  • Fetal akinesia deformation sequence 31 test
  • Fetal akinesia deformation sequence 41 test
  • Fibrochondrogenesis 11 test
  • Fibrochondrogenesis 21 test
  • Fibromatosis, gingival, 51 test
  • Fibrosis of extraocular muscles, congenital, 11 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
  • Fibrosis of extraocular muscles, congenital, 3b1 test
  • Fibrosis of extraocular muscles, congenital, 51 test
  • Finnish congenital nephrotic syndrome1 test
  • Floating-Harbor syndrome1 test
  • Focal dermal hypoplasia2 tests
  • Focal facial dermal dysplasia 3, Setleis type1 test
  • Focal facial dermal dysplasia 41 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 31 test
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 71 test
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 91 test
  • Foveal hypoplasia 21 test
  • Foveal hypoplasia and presenile cataract syndrome1 test
  • Fraser syndrome 11 test
  • Fraser syndrome 21 test
  • Fraser syndrome 31 test
  • Friedreich ataxia2 tests
  • Frontometaphyseal dysplasia 12 tests
  • Frontometaphyseal dysplasia 21 test
  • Frontonasal dysplasia 11 test
  • Frontonasal dysplasia 21 test
  • Frontonasal dysplasia 31 test
  • Frontotemporal dementia1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Frontotemporal lobar degeneration, TARDBP-related1 test
  • Fumarase deficiency1 test
  • Gallbladder disease 41 test
  • Galloway-Mowat syndrome 11 test
  • Galloway-Mowat syndrome 2, X-linked1 test
  • Galloway-Mowat syndrome 31 test
  • Galloway-Mowat syndrome 41 test
  • Galloway-Mowat syndrome 51 test
  • Galloway-Mowat syndrome 61 test
  • Galloway-Mowat syndrome 71 test
  • Galloway-Mowat syndrome 81 test
  • Gardner syndrome1 test
  • GARS-Associated Axonal Neuropathy1 test
  • Gastrointestinal and Colorectal Cancer2 tests
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
  • GATA4-related disorders1 test
  • Gaze palsy, familial horizontal, with progressive scoliosis 11 test
  • Gaze palsy, familial horizontal, with progressive scoliosis, 21 test
  • Geleophysic dysplasia1 test
  • Generalized arterial calcification of infancy 21 test
  • Generalized epilepsy with febrile seizures plus 32 tests
  • Generalized epilepsy with febrile seizures plus type 51 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 22 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Genitopatellar syndrome1 test
  • Giant axonal neuropathy 11 test
  • Giant axonal neuropathy 2, autosomal dominant1 test
  • Giant platelet disorder, isolated1 test
  • Gilbert syndrome, susceptibility to1 test
  • Gingival fibromatosis 11 test
  • Glanzmann thrombasthenia1 test
  • Glaucoma 3, primary infantile, b1 test
  • Glioblastoma 31 test
  • Glioma susceptibility 11 test
  • Glioma susceptibility 21 test
  • Glioma susceptibility 91 test
  • Glioma, susceptibility to, somatic1 test
  • Global developmental delay, progressive ataxia, and elevated glutamine1 test
  • Globozoospermia1 test
  • Glomerulopathy with fibronectin deposits 21 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency1 test
  • Glucocorticoid deficiency 51 test
  • Glucocorticoid deficiency, due to ACTH unresponsiveness1 test
  • GLUT1 deficiency syndrome2 tests
  • GLUT1 deficiency syndrome 11 test
  • GLUT1 deficiency syndrome 22 tests
  • Glycine encephalopathy with normal serum glycine3 tests
  • Glycogen storage disease2 tests
  • Glycogen storage disease type 6, due to phosphorylation1 test
  • Glycogen storage disease type III1 test
  • Glycogen storage disease, type I1 test
  • Glycogen storage disease, type IV2 tests
  • Glycogen storage disease, type V2 tests
  • Glycosylphosphatidylinositol biosynthesis defect 161 test
  • GM1 gangliosidosis2 tests
  • GNE myopathy1 test
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors1 test
  • Gordon Holmes syndrome1 test
  • Gordon syndrome1 test
  • Gorlin syndrome2 tests
  • Granulocytopenia with immunoglobulin abnormality1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
  • Gray platelet syndrome1 test
  • Greig cephalopolysyndactyly syndrome2 tests
  • GRIN2B Encephalopathy2 tests
  • Griscelli syndrome type 11 test
  • Griscelli syndrome type 21 test
  • Griscelli syndrome type 31 test
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
  • Growth hormone deficiency with pituitary anomalies1 test
  • Hand-foot-genital syndrome1 test
  • Hartsfield syndrome1 test
  • Heart block, nonprogressive1 test
  • Heart block, progressive, type IA1 test
  • Hecht syndrome1 test
  • Heimler syndrome 11 test
  • Heimler syndrome 21 test
  • Helsmoortel-Van der Aa Syndrome1 test
  • Hematologic neoplasm2 tests
  • hematological disorders and malignancies1 test
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemochromatosis type 51 test
  • Hemolytic uremic syndrome, atypical, susceptibility to1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 72 tests
  • Hemophagocytic lymphohistiocytosis, familial, 51 test
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hennekam lymphangiectasia-lymphedema syndrome 21 test
  • Hennekam lymphangiectasia-lymphedema syndrome 31 test
  • Heparin cofactor II deficiency1 test
  • Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
  • Hepatoerythropoietic porphyria2 tests
  • Hereditary breast and ovarian cancer syndrome6 tests
  • Hereditary cancer-predisposing syndrome2 tests
  • Hereditary congenital facial paresis 31 test
  • Hereditary coproporphyria1 test
  • Hereditary disease35 tests
  • Hereditary essential tremor 11 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary fructosuria2 tests
  • Hereditary hemochromatosis3 tests
  • Hereditary hemorrhagic telangiectasia type 11 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary leiomyomatosis and renal cell cancer2 tests
  • Hereditary liability to pressure palsies2 tests
  • Hereditary lymphedema type I2 tests
  • Hereditary motor and sensory neuropathy VIA1 test
  • Hereditary pancreatitis1 test
  • Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes1 test
  • Hereditary sensory and autonomic neuropathy type 12 tests
  • Hereditary sensory and autonomic neuropathy type II2 tests
  • Hereditary sensory and autonomic neuropathy type IIB1 test
  • Hereditary sensory and autonomic neuropathy type IIC1 test
  • Hereditary sensory neuropathy type 1D1 test
  • Hereditary sensory neuropathy type IE1 test
  • Hereditary sensory neuropathy type IF1 test
  • Hereditary spastic paraplegia2 tests
  • Hereditary spastic paraplegia 101 test
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 151 test
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 22 tests
  • Hereditary spastic paraplegia 231 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 392 tests
  • Hereditary spastic paraplegia 3A2 tests
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 73 tests
  • Hereditary spastic paraplegia 82 tests
  • Hereditary spastic paraplegia 9A1 test
  • Hereditary xanthinuria type 11 test
  • Heritable Thoracic Aortic Disease1 test
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 101 test
  • Hermansky-Pudlak syndrome 21 test
  • Hermansky-Pudlak syndrome 31 test
  • Hermansky-Pudlak syndrome 41 test
  • Hermansky-Pudlak syndrome 51 test
  • Hermansky-Pudlak syndrome 61 test
  • Hermansky-Pudlak syndrome 71 test
  • Hermansky-Pudlak syndrome 81 test
  • Hermansky-Pudlak syndrome 91 test
  • Herpes simplex encephalitis 11 test
  • Herpes simplex encephalitis 21 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Herpes simplex encephalitis, susceptibility to, 41 test
  • Herpes simplex encephalitis, susceptibility to, 71 test
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 51 test
  • Heterotaxy, visceral, 6, autosomal recessive1 test
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotaxy, visceral, 8, autosomal1 test
  • HFE hemochromatosis, modifier of1 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Hirschsprung disease 11 test
  • Hirschsprung disease 21 test
  • Hirschsprung disease 31 test
  • Hirschsprung disease 41 test
  • Hirschsprung disease, protection against1 test
  • Holoprosencephaly sequence1 test
  • Holt-Oram syndrome2 tests
  • HSD10 disease1 test
  • Huntington disease-like 21 test
  • Hurler syndrome1 test
  • Hutchinson-Gilford progeria syndrome, childhood-onset2 tests
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydatidiform mole, recurrent, 31 test
  • Hydatidiform mole, recurrent, 41 test
  • Hydranencephaly with abnormal genitalia1 test
  • Hydrocephalus due to aqueductal stenosis1 test
  • Hydrocephalus with congenital idiopathic intestinal pseudoobstruction1 test
  • Hydrocephalus with Hirschsprung disease1 test
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies1 test
  • Hydrocephalus, congenital, 3, with brain anomalies1 test
  • Hydrolethalus syndrome1 test
  • Hydrolethalus syndrome 21 test
  • Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to1 test
  • Hyper-IgE recurrent infection syndrome1 test
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive1 test
  • Hyper-IgM syndrome type 21 test
  • Hyper-IgM syndrome type 31 test
  • Hyper-IgM syndrome type 51 test
  • Hyperaldosteronism, familial, type I1 test
  • Hyperaldosteronism, familial, type II1 test
  • Hyperaldosteronism, familial, type IV1 test
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 21 test
  • Hyperekplexia 13 tests
  • Hyperekplexia 21 test
  • Hyperekplexia 31 test
  • Hyperekplexia 41 test
  • Hyperfibrinolysis, familial, due to increased release of PLAT1 test
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
  • Hyperimmunoglobulin M syndrome2 tests
  • Hyperinsulinemic hypoglycemia familial 51 test
  • Hyperinsulinemic hypoglycemia, familial, 11 test
  • Hyperinsulinemic hypoglycemia, familial, 21 test
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperlipoproteinemia, type I2 tests
  • Hypermanganesemia with dystonia 22 tests
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperparathyroidism 21 test
  • Hyperparathyroidism 41 test
  • Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria1 test
  • Hyperparathyroidism, transient neonatal1 test
  • Hyperphosphatasemia tarda1 test
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with mental retardation syndrome 11 test
  • Hyperphosphatasia with mental retardation syndrome 21 test
  • Hyperphosphatasia with mental retardation syndrome 31 test
  • Hyperphosphatasia with mental retardation syndrome 41 test
  • Hyperphosphatasia with mental retardation syndrome 51 test
  • Hyperphosphatasia with mental retardation syndrome 61 test
  • Hypertension, pregnancy-induced, susceptibility to1 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
  • Hyperuricemic nephropathy, familial juvenile, 21 test
  • Hyperuricemic nephropathy, familial juvenile, 41 test
  • Hypocalcemia, autosomal dominant 21 test
  • Hypocalcemia, autosomal dominant, with bartter syndrome1 test
  • Hypocalciuric hypercalcemia, familial, type 11 test
  • Hypocalciuric hypercalcemia, type II1 test
  • Hypocalciuric hypercalcemia, type III1 test
  • Hypochondroplasia1 test
  • Hypochromic microcytic anemia with iron overload 21 test
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)2 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 17 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 19 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 23 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 24 without anosmia1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis1 test
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 4, renal1 test
  • Hypomagnesemia 5, renal, with ocular involvement1 test
  • Hypomagnesemia 6, renal1 test
  • Hypomagnesemia, seizures, and mental retardation 11 test
  • Hypomagnesemia, seizures, and mental retardation 21 test
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 71 test
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
  • Hypomyelinating neuropathy, congenital, 12 tests
  • Hypomyelination and Congenital Cataract2 tests
  • Hypomyelination, global cerebral1 test
  • Hypophosphatasia2 tests
  • Hypophosphatemic rickets1 test
  • Hypophosphatemic rickets, AR1 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic left heart syndrome 11 test
  • Hypoplastic left heart syndrome 21 test
  • Hypoproteinemia, hypercatabolic1 test
  • Hypospadias 1, X-linked1 test
  • Hypospadias 2, X-linked1 test
  • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia1 test
  • Hypothyroidism, congenital, nongoitrous, 11 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Hypothyroidism, congenital, nongoitrous, 61 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 21 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
  • Hypotrichosis 11 test
  • Hypotrichosis 111 test
  • Hypotrichosis 121 test
  • Hypotrichosis 131 test
  • Hypotrichosis 141 test
  • Hypotrichosis 21 test
  • Hypotrichosis 31 test
  • Hypotrichosis 41 test
  • Hypotrichosis 61 test
  • Hypotrichosis 71 test
  • Hypotrichosis 81 test
  • Ichthyosis, congenital, autosomal recessive 111 test
  • Ichthyosis, congenital, autosomal recessive 121 test
  • Ichthyosis, congenital, autosomal recessive 131 test
  • Ichthyosis, congenital, autosomal recessive 141 test
  • Ichthyosis, congenital, autosomal recessive 4B (harlequin)1 test
  • Idiopathic basal ganglia calcification 13 tests
  • Idiopathic basal ganglia calcification 51 test
  • Idiopathic infantile nystagmus1 test
  • Idiopathic nephrotic syndrome1 test
  • IgA nephropathy, susceptibility to, 11 test
  • IgA nephropathy, susceptibility to, 31 test
  • IL21R immunodeficiency1 test
  • Immunodeficiency 111 test
  • Immunodeficiency 11b with atopic dermatitis1 test
  • Immunodeficiency 121 test
  • Immunodeficiency 131 test
  • Immunodeficiency 141 test
  • Immunodeficiency 151 test
  • Immunodeficiency 15a1 test
  • Immunodeficiency 161 test
  • Immunodeficiency 17, CD3 gamma deficient1 test
  • Immunodeficiency 181 test
  • Immunodeficiency 18, scid variant1 test
  • Immunodeficiency 191 test
  • Immunodeficiency 201 test
  • Immunodeficiency 221 test
  • Immunodeficiency 231 test
  • Immunodeficiency 241 test
  • Immunodeficiency 26 with or without neurologic abnormalities1 test
  • Immunodeficiency 27A, mycobacteriosis, AR1 test
  • Immunodeficiency 27B, mycobacteriosis, AD1 test
  • Immunodeficiency 281 test
  • Immunodeficiency 29, mycobacteriosis1 test
  • Immunodeficiency 301 test
  • Immunodeficiency 31a1 test
  • Immunodeficiency 31C, autosomal dominant2 tests
  • Immunodeficiency 32a1 test
  • Immunodeficiency 32b1 test
  • Immunodeficiency 351 test
  • Immunodeficiency 361 test
  • Immunodeficiency 371 test
  • Immunodeficiency 381 test
  • Immunodeficiency 391 test
  • Immunodeficiency 401 test
  • Immunodeficiency 421 test
  • Immunodeficiency 441 test
  • Immunodeficiency 451 test
  • Immunodeficiency 461 test
  • Immunodeficiency 471 test
  • Immunodeficiency 491 test
  • Immunodeficiency 501 test
  • Immunodeficiency 511 test
  • Immunodeficiency 521 test
  • Immunodeficiency 531 test
  • Immunodeficiency 571 test
  • Immunodeficiency 601 test
  • Immunodeficiency 611 test
  • Immunodeficiency 621 test
  • Immunodeficiency 7, TCR-alpha/beta deficient1 test
  • Immunodeficiency 81 test
  • Immunodeficiency due to defect in cd3-zeta1 test
  • Immunodeficiency due to ficolin 3 deficiency1 test
  • Immunodeficiency, common variable, 121 test
  • Immunodeficiency, common variable, 131 test
  • Immunodeficiency, common variable, 141 test
  • Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome1 test
  • Immunodeficiency, X-linked, with hyper-IgM2 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 12 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21 test
  • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 31 test
  • Incontinentia pigmenti syndrome1 test
  • Infantile liver failure syndrome 11 test
  • Infantile liver failure syndrome 21 test
  • Infantile myofibromatosis 11 test
  • Infantile myofibromatosis 21 test
  • Infantile neuroaxonal dystrophy1 test
  • Infantile neuroaxonal dystrophy 11 test
  • Infantile nystagmus, X-linked1 test
  • Infantile onset spinocerebellar ataxia2 tests
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Infertility due to oligospermia1 test
  • Inflammatory bowel disease 1, Crohn disease1 test
  • Inflammatory bowel disease 101 test
  • Inflammatory bowel disease 131 test
  • Inflammatory bowel disease 141 test
  • Inflammatory bowel disease 17, protection against1 test
  • Inflammatory bowel disease 191 test
  • Inflammatory bowel disease 25, early onset, autosomal recessive1 test
  • Inflammatory bowel disease 28, early onset, autosomal recessive1 test
  • Inflammatory bowel disease 291 test
  • Inflammatory skin and bowel disease, neonatal 11 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Insulin resistance, severe, digenic1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Intellectual developmental disorder, autosomal recessive 671 test
  • Intellectual developmental disorder, autosomal recessive 681 test
  • Intellectual developmental disorder, autosomal recessive 691 test
  • Intellectual developmental disorder, autosomal recessive 701 test
  • Intellectual developmental disorder, X-linked 1081 test
  • Intellectual disability1 test
  • Intellectual disability, autosomal dominant 451 test
  • Intellectual disability, autosomal dominant 461 test
  • Intellectual disability, autosomal dominant 471 test
  • Intellectual disability, autosomal dominant 481 test
  • Intellectual disability, autosomal dominant 501 test
  • Intellectual disability, autosomal dominant 511 test
  • Intellectual disability, autosomal dominant 521 test
  • Intellectual disability, autosomal dominant 531 test
  • Intellectual disability, autosomal dominant 541 test
  • Intellectual disability, autosomal dominant 55, with seizures1 test
  • Intellectual disability, autosomal dominant 561 test
  • Intellectual disability, autosomal dominant 571 test
  • Intellectual disability, autosomal dominant 581 test
  • Intellectual disability, autosomal dominant 91 test
  • Intellectual disability, autosomal recessive 611 test
  • Intellectual disability, autosomal recessive 631 test
  • Intellectual disability, autosomal recessive 641 test
  • Intellectual disability, autosomal recessive 651 test
  • Intellectual disability, autosomal recessive 661 test
  • Intellectual disability, X-linked 1061 test
  • Intellectual disability, X-linked 1071 test
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked syndromic, Turner type1 test
  • Intellectual disability, X-linked, syndromic, Houge type1 test
  • Interleukin 2 receptor, alpha, deficiency of1 test
  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies1 test
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies1 test
  • Invasive pneumococcal disease, protection against1 test
  • Invasive pneumococcal disease, recurrent isolated, 11 test
  • Isolated coronal synostosis1 test
  • Isolated growth hormone deficiency type IB1 test
  • Isolated growth hormone deficiency, type 41 test
  • Isolated growth hormone deficiency, type 51 test
  • isolated hypomyelination1 test
  • Isolated sulfite oxidase deficiency1 test
  • Jackson-Weiss syndrome1 test
  • Jervell and Lange-Nielsen syndrome1 test
  • Joubert syndrome 11 test
  • Joubert syndrome 101 test
  • Joubert syndrome 121 test
  • Joubert syndrome 131 test
  • Joubert syndrome 141 test
  • Joubert syndrome 151 test
  • Joubert syndrome 161 test
  • Joubert syndrome 171 test
  • Joubert syndrome 181 test
  • Joubert syndrome 192 tests
  • Joubert syndrome 21 test
  • Joubert syndrome 201 test
  • Joubert syndrome 211 test
  • Joubert syndrome 221 test
  • Joubert syndrome 231 test
  • Joubert syndrome 241 test
  • Joubert syndrome 251 test
  • Joubert syndrome 261 test
  • Joubert syndrome 271 test
  • Joubert syndrome 281 test
  • JOUBERT SYNDROME 292 tests
  • Joubert syndrome 31 test
  • Joubert syndrome 301 test
  • Joubert syndrome 311 test
  • Joubert syndrome 321 test
  • Joubert syndrome 331 test
  • JOUBERT SYNDROME 342 tests
  • Joubert syndrome 351 test
  • Joubert syndrome 41 test
  • Joubert syndrome 51 test
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 81 test
  • Joubert syndrome 91 test
  • Junctional epidermolysis bullosa1 test
  • Juvenile hemochromatosis1 test
  • Juvenile retinoschisis2 tests
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • Kallmann syndrome 32 tests
  • Kartagener syndrome1 test
  • Kaufman oculocerebrofacial syndrome1 test
  • KCNQ3-related developmental disability2 tests
  • Kenny-Caffey syndrome type 21 test
  • Keratoconus 11 test
  • Keratoconus 91 test
  • Kindler syndrome2 tests
  • King Denborough syndrome1 test
  • Kleefstra syndrome 12 tests
  • Kleefstra syndrome 21 test
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 2, autosomal recessive1 test
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism1 test
  • Koolen-de Vries syndrome2 tests
  • Kostmann syndrome1 test
  • Kufor-Rakeb syndrome1 test
  • Lafora disease1 test
  • Larsen syndrome1 test
  • Lateral meningocele syndrome1 test
  • Laurence-Moon syndrome1 test
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 101 test
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 132 tests
  • Leber congenital amaurosis 141 test
  • Leber congenital amaurosis 151 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 171 test
  • Leber congenital amaurosis 182 tests
  • Leber congenital amaurosis 21 test
  • Leber congenital amaurosis 31 test
  • Leber congenital amaurosis 41 test
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 61 test
  • Leber congenital amaurosis 71 test
  • Leber congenital amaurosis 81 test
  • Leber congenital amaurosis 91 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 102 tests
  • Left Ventricular Noncompaction 3, with or without Dilated Cardiomyopathy3 tests
  • Left ventricular noncompaction 42 tests
  • Left ventricular noncompaction 52 tests
  • Left ventricular noncompaction 62 tests
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 82 tests
  • Left ventricular noncompaction 92 tests
  • Lenz microphthalmia syndrome2 tests
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Lethal congenital contractural syndrome 21 test
  • Lethal congenital contractural syndrome 31 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital contracture syndrome 101 test
  • Lethal congenital contracture syndrome 111 test
  • Lethal congenital contracture syndrome 41 test
  • Lethal congenital contracture syndrome 51 test
  • Lethal congenital contracture syndrome 61 test
  • Lethal congenital contracture syndrome 71 test
  • Lethal congenital contracture syndrome 81 test
  • Lethal congenital contracture syndrome 91 test
  • Leukocyte adhesion deficiency type II1 test
  • Leukodystrophy1 test
  • Leukodystrophy, hypomyelinating, 101 test
  • Leukodystrophy, hypomyelinating, 111 test
  • Leukodystrophy, hypomyelinating, 121 test
  • Leukodystrophy, hypomyelinating, 131 test
  • Leukodystrophy, hypomyelinating, 141 test
  • Leukodystrophy, hypomyelinating, 151 test
  • Leukodystrophy, hypomyelinating, 161 test
  • Leukodystrophy, hypomyelinating, 171 test
  • Leukodystrophy, hypomyelinating, 181 test
  • Leukodystrophy, hypomyelinating, 21 test
  • Leukodystrophy, hypomyelinating, 41 test
  • Leukodystrophy, hypomyelinating, 61 test
  • Leukodystrophy, hypomyelinating, 91 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leydig cell hyperplasia1 test
  • Lhermitte-Duclos syndrome1 test
  • Li-Fraumeni syndrome3 tests
  • Lichtenstein-knorr syndrome1 test
  • Liddle syndrome 11 test
  • Liddle syndrome 21 test
  • Liddle syndrome 31 test
  • Limb-girdle muscular dystrophy, type 1E1 test
  • Limb-girdle muscular dystrophy, type 1F1 test
  • Limb-girdle muscular dystrophy, type 1G1 test
  • Limb-girdle muscular dystrophy, type 2A1 test
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy, type 2L1 test
  • Limb-girdle muscular dystrophy, type 2Q1 test
  • Limb-girdle muscular dystrophy, type 2S1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C12 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C22 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C32 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C42 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C52 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C92 tests
  • Linear skin defects with multiple congenital anomalies 12 tests
  • Linear skin defects with multiple congenital anomalies 21 test
  • Linear skin defects with multiple congenital anomalies 31 test
  • Lipid proteinosis1 test
  • Lipodystrophy, congenital generalized, type 31 test
  • Lipodystrophy, congenital generalized, type 41 test
  • Lipoid adrenal hyperplasia1 test
  • Lissencephaly 2, X-linked1 test
  • Lissencephaly 31 test
  • Lissencephaly 4 (with microcephaly)1 test
  • Lissencephaly 51 test
  • Lissencephaly 6, with microcephaly1 test
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly 81 test
  • Lissencephaly 9 with complex brainstem malformation1 test
  • Lissencephaly due to LIS1 mutation1 test
  • Lissencephaly, X-linked1 test
  • Loeys-Dietz syndrome1 test
  • Loeys-Dietz syndrome 12 tests
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 31 test
  • Loeys-Dietz syndrome 41 test
  • Loeys-Dietz syndrome 51 test
  • Long QT syndrome 11 test
  • Long QT syndrome 102 tests
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 141 test
  • Long QT syndrome 151 test
  • Long QT syndrome 21 test
  • Long QT syndrome 2, acquired, susceptibility to1 test
  • Long QT syndrome 31 test
  • Long QT syndrome 41 test
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Long QT syndrome, acquired, reduced susceptibility to1 test
  • Low phospholipid associated cholelithiasis1 test
  • Lucey-Driscoll syndrome1 test
  • Lung carcinoma1 test
  • Lymphatic malformation 31 test
  • Lymphedema, hereditary, ID1 test
  • Lymphedema, hereditary, III1 test
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
  • Lymphoproliferative syndrome 11 test
  • Lymphoproliferative syndrome 1, X-linked3 tests
  • Lymphoproliferative syndrome 21 test
  • Lymphoproliferative syndrome 2, X-linked1 test
  • Lynch syndrome13 tests
  • Lysinuric protein intolerance2 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
  • MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO1 test
  • Macular degeneration, age-related, 151 test
  • Macular degeneration, age-related, neovascular type}1 test
  • Macular dystrophy, patterned, 11 test
  • Macular dystrophy, patterned, 21 test
  • Macular dystrophy, patterned, 31 test
  • Macular dystrophy, vitelliform, 41 test
  • Macular dystrophy, vitelliform, 51 test
  • Macular dystrophy, vitelliform, adult-onset1 test
  • Majeed syndrome1 test
  • Malignant hyperthermia, susceptibility to, 11 test
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant neoplasm of endocrine gland2 tests
  • Malignant tumor of kidney2 tests
  • Malignant tumor of prostate1 test
  • Mandibuloacral dysplasia1 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Mandibulofacial dysostosis-microcephaly syndrome2 tests
  • Maple syrup urine disease1 test
  • Maple syrup urine disease type 1A1 test
  • Maple syrup urine disease type 1B1 test
  • Maple syrup urine disease type 21 test
  • Maple syrup urine disease, mild variant1 test
  • Maple syrup urine disease, type 31 test
  • MASA syndrome1 test
  • MASP2 deficiency1 test
  • Mast syndrome1 test
  • Matthew-Wood syndrome2 tests
  • McCune-Albright syndrome1 test
  • McKusick-Kaufman syndrome1 test
  • McLeod neuroacanthocytosis syndrome2 tests
  • Meckel syndrome 102 tests
  • Meckel syndrome 121 test
  • Meckel syndrome 132 tests
  • Meckel syndrome 21 test
  • Meckel syndrome 51 test
  • Meckel syndrome 71 test
  • Meckel syndrome 91 test
  • Meckel syndrome type 11 test
  • Meckel syndrome type 61 test
  • Meckel syndrome type 81 test
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 41 test
  • Megalencephalic leukoencephalopathy with subcortical cysts2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
  • MEHMO syndrome1 test
  • Meier-Gorlin syndrome 11 test
  • Meier-Gorlin syndrome 21 test
  • Meier-Gorlin syndrome 31 test
  • Meier-Gorlin syndrome 41 test
  • Meier-Gorlin syndrome 51 test
  • Meier-gorlin syndrome 61 test
  • Meier-gorlin syndrome 71 test
  • Meier-Gorlin syndrome 81 test
  • Melanoma2 tests
  • Melanoma, cutaneous malignant, susceptibility to, 101 test
  • Melanoma-pancreatic cancer syndrome2 tests
  • Melnick-Needles syndrome1 test
  • Menke-Hennekam syndrome 11 test
  • Menke-Hennekam syndrome 21 test
  • Mental retardation 49, X-linked1 test
  • Mental retardation 58, X-linked1 test
  • Mental retardation 63, X-linked1 test
  • Mental retardation 91, X-linked1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia1 test
  • Mental retardation syndrome, X-linked, Siderius type1 test
  • Mental retardation, autosomal dominant 11 test
  • Mental retardation, autosomal dominant 101 test
  • Mental retardation, autosomal dominant 111 test
  • Mental retardation, autosomal dominant 131 test
  • Mental retardation, autosomal dominant 142 tests
  • Mental retardation, autosomal dominant 152 tests
  • Mental retardation, autosomal dominant 162 tests
  • Mental retardation, autosomal dominant 181 test
  • Mental retardation, autosomal dominant 191 test
  • Mental retardation, autosomal dominant 211 test
  • Mental retardation, autosomal dominant 221 test
  • Mental retardation, autosomal dominant 231 test
  • Mental retardation, autosomal dominant 241 test
  • Mental retardation, autosomal dominant 261 test
  • Mental retardation, autosomal dominant 271 test
  • Mental retardation, autosomal dominant 291 test
  • Mental retardation, autosomal dominant 31 test
  • Mental retardation, autosomal dominant 301 test
  • Mental retardation, autosomal dominant 312 tests
  • Mental retardation, autosomal dominant 331 test
  • Mental retardation, autosomal dominant 341 test
  • Mental retardation, autosomal dominant 351 test
  • Mental retardation, autosomal dominant 361 test
  • Mental retardation, autosomal dominant 381 test
  • Mental retardation, autosomal dominant 391 test
  • Mental retardation, autosomal dominant 401 test
  • Mental retardation, autosomal dominant 411 test
  • Mental retardation, autosomal dominant 421 test
  • Mental retardation, autosomal dominant 431 test
  • Mental retardation, autosomal dominant 441 test
  • Mental retardation, autosomal dominant 51 test
  • Mental retardation, autosomal dominant 61 test
  • Mental retardation, autosomal dominant 71 test
  • Mental retardation, autosomal recessive 11 test
  • Mental retardation, autosomal recessive 121 test
  • Mental retardation, autosomal recessive 131 test
  • Mental retardation, autosomal recessive 141 test
  • Mental retardation, autosomal recessive 151 test
  • Mental retardation, autosomal recessive 181 test
  • Mental retardation, autosomal recessive 21 test
  • Mental retardation, autosomal recessive 271 test
  • Mental retardation, autosomal recessive 31 test
  • Mental retardation, autosomal recessive 341 test
  • Mental retardation, autosomal recessive 361 test
  • Mental retardation, autosomal recessive 371 test
  • Mental retardation, autosomal recessive 381 test
  • Mental retardation, autosomal recessive 391 test
  • Mental retardation, autosomal recessive 401 test
  • Mental retardation, autosomal recessive 411 test
  • Mental retardation, autosomal recessive 421 test
  • Mental retardation, autosomal recessive 431 test
  • Mental retardation, autosomal recessive 441 test
  • Mental retardation, autosomal recessive 451 test
  • Mental retardation, autosomal recessive 461 test
  • Mental retardation, autosomal recessive 471 test
  • Mental retardation, autosomal recessive 481 test
  • Mental retardation, autosomal recessive 491 test
  • Mental retardation, autosomal recessive 51 test
  • Mental retardation, autosomal recessive 501 test
  • Mental retardation, autosomal recessive 511 test
  • Mental retardation, autosomal recessive 521 test
  • Mental retardation, autosomal recessive 531 test
  • Mental retardation, autosomal recessive 541 test
  • Mental retardation, autosomal recessive 551 test
  • Mental retardation, autosomal recessive 561 test
  • Mental retardation, autosomal recessive 571 test
  • Mental retardation, autosomal recessive 581 test
  • Mental retardation, autosomal recessive 591 test
  • Mental retardation, autosomal recessive 61 test
  • Mental retardation, autosomal recessive 601 test
  • Mental retardation, autosomal recessive 71 test
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1 test
  • Mental retardation, syndromic 14, X-linked1 test
  • Mental retardation, syndromic, Claes-Jensen type, X-linked1 test
  • Mental retardation, X-linked 1/781 test
  • Mental retardation, X-linked 1001 test
  • Mental retardation, X-linked 1011 test
  • Mental retardation, X-linked 1021 test
  • Mental retardation, X-linked 1031 test
  • Mental retardation, X-linked 1041 test
  • Mental retardation, X-linked 1051 test
  • Mental retardation, X-linked 12/351 test
  • Mental retardation, X-linked 191 test
  • Mental retardation, X-linked 29 and others1 test
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )1 test
  • Mental retardation, X-linked 30/471 test
  • Mental retardation, X-linked 611 test
  • Mental retardation, X-linked 721 test
  • Mental retardation, X-linked 9/441 test
  • Mental retardation, X-linked 931 test
  • Mental retardation, X-linked 961 test
  • Mental retardation, X-linked 981 test
  • Mental retardation, X-linked 991 test
  • Mental retardation, X-linked 99, syndromic, female-restricted1 test
  • Mental retardation, X-linked, syndromic 11, Shashi type1 test
  • Mental retardation, X-linked, syndromic 131 test
  • Mental retardation, X-linked, syndromic 15 (Cabezas type)1 test
  • Mental retardation, X-linked, syndromic 321 test
  • Mental retardation, X-linked, syndromic 331 test
  • Mental retardation, X-linked, syndromic 341 test
  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, 351 test
  • Mental retardation, X-linked, syndromic, Bain type1 test
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Mental retardation, X-linked, syndromic, Raymond type1 test
  • Mental retardation, X-linked, syndromic, wu type2 tests
  • Metatrophic dysplasia1 test
  • Methylmalonic acidemia1 test
  • Microcephaly 16, primary, autosomal recessive1 test
  • Microcephaly 17, primary, autosomal recessive1 test
  • Microcephaly 18, primary, autosomal dominant1 test
  • Microcephaly 19, primary, autosomal recessive1 test
  • Microcephaly 20, primary, autosomal recessive1 test
  • Microcephaly 21, primary, autosomal recessive1 test
  • Microcephaly 22, primary, autosomal recessive1 test
  • Microcephaly 23, primary, autosomal recessive1 test
  • Microcephaly 24, primary, autosomal recessive1 test
  • Microcephaly 25, primary, autosomal recessive1 test
  • Microcephaly and chorioretinopathy, autosomal recessive, 11 test
  • Microcephaly and chorioretinopathy, autosomal recessive, 21 test
  • Microcephaly and chorioretinopathy, autosomal recessive, 31 test
  • Microcephaly with Polymicrogyria1 test
  • Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Microcephaly-capillary malformation syndrome1 test
  • Microphthalmia with brain and digit anomalies1 test
  • Microphthalmia with coloboma 31 test
  • Microphthalmia with Coloboma 51 test
  • Microphthalmia with coloboma 61 test
  • Microphthalmia with coloboma 6, digenic1 test
  • 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 71 test
  • Microphthalmia, isolated, with coloboma 82 tests
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 111 test
  • Microphthalmia, syndromic 121 test
  • Microphthalmia, syndromic 131 test
  • Microphthalmia/coloboma and skeletal dysplasia syndrome1 test
  • Microvascular complications of diabetes 11 test
  • Microvascular complications of diabetes 21 test
  • Microvascular complications of diabetes 31 test
  • Microvascular complications of diabetes 41 test
  • Microvascular complications of diabetes 51 test
  • Microvascular complications of diabetes 61 test
  • Microvascular complications of diabetes 71 test
  • Mild late-onset parkinsonism1 test
  • Mirror movements 11 test
  • Mirror movements 21 test
  • Mirror movements 31 test
  • Mirror movements 41 test
  • Mitochondrial complex 1 deficiency, nuclear type 101 test
  • Mitochondrial complex 1 deficiency, nuclear type 111 test
  • Mitochondrial complex 1 deficiency, nuclear type 121 test
  • Mitochondrial complex 1 deficiency, nuclear type 131 test
  • Mitochondrial complex 1 deficiency, nuclear type 141 test
  • Mitochondrial complex 1 deficiency, nuclear type 151 test
  • Mitochondrial complex 1 deficiency, nuclear type 161 test
  • Mitochondrial complex 1 deficiency, nuclear type 171 test
  • Mitochondrial complex 1 deficiency, nuclear type 181 test
  • Mitochondrial complex 1 deficiency, nuclear type 191 test
  • Mitochondrial complex 1 deficiency, nuclear type 21 test
  • Mitochondrial complex 1 deficiency, nuclear type 211 test
  • Mitochondrial complex 1 deficiency, nuclear type 221 test
  • Mitochondrial complex 1 deficiency, nuclear type 231 test
  • Mitochondrial complex 1 deficiency, nuclear type 241 test
  • Mitochondrial complex 1 deficiency, nuclear type 251 test
  • Mitochondrial complex 1 deficiency, nuclear type 261 test
  • Mitochondrial complex 1 deficiency, nuclear type 271 test
  • Mitochondrial complex 1 deficiency, nuclear type 281 test
  • Mitochondrial complex 1 deficiency, nuclear type 291 test
  • Mitochondrial complex 1 deficiency, nuclear type 31 test
  • Mitochondrial complex 1 deficiency, nuclear type 301 test
  • Mitochondrial complex 1 deficiency, nuclear type 311 test
  • Mitochondrial complex 1 deficiency, nuclear type 321 test
  • Mitochondrial complex 1 deficiency, nuclear type 331 test
  • Mitochondrial complex 1 deficiency, nuclear type 41 test
  • Mitochondrial complex 1 deficiency, nuclear type 51 test
  • Mitochondrial complex 1 deficiency, nuclear type 61 test
  • Mitochondrial complex 1 deficiency, nuclear type 71 test
  • Mitochondrial complex 1 deficiency, nuclear type 81 test
  • Mitochondrial complex 1 deficiency, nuclear type 91 test
  • Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 51 test
  • Mitochondrial complex I deficiency, nuclear type 11 test
  • Mitochondrial complex III deficiency, nuclear type 11 test
  • Mitochondrial complex III deficiency, nuclear type 21 test
  • Mitochondrial complex III deficiency, nuclear type 31 test
  • Mitochondrial complex III deficiency, nuclear type 41 test
  • Mitochondrial complex III deficiency, nuclear type 51 test
  • Mitochondrial complex III deficiency, nuclear type 61 test
  • Mitochondrial complex III deficiency, nuclear type 71 test
  • Mitochondrial complex III deficiency, nuclear type 81 test
  • Mitochondrial complex III deficiency, nuclear type 91 test
  • Mitochondrial complex v (atp synthase) deficiency, nuclear type 41 test
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)3 tests
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD1 test
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR1 test
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)2 tests
  • Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 23 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type1 test
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy2 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
  • Mitral valve prolapse 21 test
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 21 test
  • Miyoshi muscular dystrophy 31 test
  • Molybdenum Cofactor Deficiency A1 test
  • Molybdenum cofactor deficiency B1 test
  • Molybdenum cofactor deficiency C1 test
  • Mosaic variegated aneuploidy syndrome 11 test
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mosaic variegated aneuploidy syndrome 31 test
  • Moyamoya disease 21 test
  • Moyamoya disease 51 test
  • Moyamoya disease 6 with achalasia1 test
  • MPDU1-CDG1 test
  • MPI-CDG1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis II1 test
  • Mucopolysaccharidosis IVA1 test
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis type 71 test
  • Mucopolysaccharidosis type IVB (Morquio)1 test
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-IV-B2 tests
  • Muenke syndrome3 tests
  • Multicentric osteolysis, nodulosis and arthropathy1 test
  • Multiminicore Disease1 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
  • Multiple congenital exostosis2 tests
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple endocrine neoplasia IIB1 test
  • Multiple endocrine neoplasia, type 13 tests
  • Multiple endocrine neoplasia, type 22 tests
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 41 test
  • Multiple epiphyseal dysplasia 11 test
  • Multiple epiphyseal dysplasia 61 test
  • Multiple epiphyseal dysplasia type 41 test
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple fibrofolliculomas4 tests
  • Multiple mitochondrial dysfunctions syndrome 11 test
  • Multiple mitochondrial dysfunctions syndrome 21 test
  • Multiple mitochondrial dysfunctions syndrome 31 test
  • Multiple mitochondrial dysfunctions syndrome 41 test
  • Multiple mitochondrial dysfunctions syndrome 51 test
  • Multiple mitochondrial dysfunctions syndrome 61 test
  • Multiple sclerosis modifier of disease progression1 test
  • Multiple sclerosis susceptibility 11 test
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple synostoses syndrome 21 test
  • Multiple synostoses syndrome 31 test
  • Multiple synostoses syndrome 41 test
  • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures1 test
  • Muscular dystrophy, limb-girdle, autosomal dominant 41 test
  • Muscular dystrophy, limb-girdle, autosomal recessive 231 test
  • Muscular dystrophy, limb-girdle, type 2W1 test
  • Muscular dystrophy, limb-girdle, type 2X1 test
  • Muscular dystrophy, limb-girdle, type 2z1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 131 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 91 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 81 test
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 141 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 121 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 142 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 72 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 82 tests
  • Myasthenia, congenital, 12, with tubular aggregates2 tests
  • Myasthenia, limb-girdle, familial1 test
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 13, with tubular aggregates2 tests
  • Myasthenic syndrome, congenital, 14, with tubular aggregates2 tests
  • Myasthenic syndrome, congenital, 15, without tubular aggregates1 test
  • Myasthenic syndrome, congenital, 171 test
  • Myasthenic syndrome, congenital, 181 test
  • Myasthenic syndrome, congenital, 191 test
  • Myasthenic syndrome, congenital, 20, presynaptic1 test
  • Myasthenic syndrome, congenital, 21, presynaptic1 test
  • Myasthenic syndrome, congenital, 221 test
  • Myasthenic syndrome, congenital, 23, presynaptic1 test
  • Myasthenic syndrome, congenital, 24, presynaptic1 test
  • Myasthenic syndrome, congenital, 251 test
  • Myasthenic syndrome, congenital, 2a, slow-channel1 test
  • Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 3a, slow-channel1 test
  • Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 4a, slow-channel1 test
  • Myasthenic syndrome, congenital, 4b, fast-channel1 test
  • Myasthenic syndrome, congenital, 7, presynaptic1 test
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects1 test
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, slow-channel congenital1 test
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive1 test
  • MYH-associated polyposis3 tests
  • Myhre syndrome1 test
  • Myoclonic dystonia 111 test
  • Myoclonic epilepsy myopathy sensory ataxia1 test
  • Myoclonic epilepsy, familial infantile1 test
  • Myoclonus, familial 11 test
  • Myoclonus, familial, 21 test
  • Myofibrillar myopathy 11 test
  • Myofibrillar myopathy 31 test
  • Myofibrillar myopathy, BAG3-related1 test
  • Myofibrillar myopathy, filamin C-related1 test
  • Myofibrillar myopathy, ZASP-related1 test
  • Myokymia 11 test
  • Myopathy with postural muscle atrophy, X-linked1 test
  • Myopathy, actin, congenital, with cores1 test
  • Myopathy, centronuclear, 11 test
  • Myopathy, centronuclear, 21 test
  • Myopathy, centronuclear, 41 test
  • Myopathy, centronuclear, 51 test
  • Myopathy, centronuclear, 6, with fiber-type disproportion1 test
  • Myopathy, distal, 11 test
  • Myopathy, early-onset, with fatal cardiomyopathy1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 11 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, myofibrillar, 71 test
  • Myopathy, myofibrillar, 81 test
  • Myopathy, myofibrillar, 9, with early respiratory failure2 tests
  • Myopathy, tubular aggregate, 11 test
  • Myopathy, tubular aggregate, 21 test
  • Myopia 21, autosomal dominant1 test
  • Myopia 22, autosomal dominant1 test
  • Myopia 23, autosomal recessive1 test
  • Myopia 24, autosomal dominant1 test
  • Myopia 25, autosomal dominant1 test
  • Myopia 26, X-linked, female-limited1 test
  • Myopia 61 test
  • Myostatin-related muscle hypertrophy1 test
  • Myotonia congenita2 tests
  • Myotonic dystrophy type 21 test
  • Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)1 test
  • Nail disorder, nonsyndromic congenital, 3, (leukonychia)1 test
  • Nail disorder, nonsyndromic congenital, 81 test
  • Nail-patella syndrome2 tests
  • Nanophthalmos 21 test
  • Nanophthalmos 41 test
  • Narcolepsy 11 test
  • Narcolepsy 71 test
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect1 test
  • Navajo neurohepatopathy2 tests
  • Nemaline myopathy 1, autosomal dominant or recessive1 test
  • Nemaline myopathy 101 test
  • Nemaline myopathy 11, autosomal recessive1 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 3, autosomal dominant or recessive1 test
  • Nemaline myopathy 4, autosomal dominant1 test
  • Nemaline myopathy 5, Amish type1 test
  • Nemaline myopathy 6, autosomal dominant1 test
  • Nemaline myopathy 7, autosomal recessive1 test
  • Nemaline myopathy 8, autosomal recessive1 test
  • Nemaline myopathy 91 test
  • Neonatal pseudo-hydrocephalic progeroid syndrome1 test
  • Neoplasm of stomach1 test
  • Nephrogenic diabetes insipidus1 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 11 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
  • Nephronophthisis 111 test
  • Nephronophthisis 121 test
  • Nephronophthisis 131 test
  • Nephronophthisis 142 tests
  • Nephronophthisis 151 test
  • Nephronophthisis 161 test
  • Nephronophthisis 181 test
  • Nephronophthisis 191 test
  • Nephronophthisis 2, infantile1 test
  • Nephronophthisis 201 test
  • Nephronophthisis 71 test
  • Nephronophthisis 91 test
  • Nephronophthisis-like nephropathy 11 test
  • Nephrotic syndrome type 141 test
  • Nephrotic syndrome type 151 test
  • Nephrotic syndrome type 161 test
  • Nephrotic syndrome, type 101 test
  • Nephrotic syndrome, type 111 test
  • Nephrotic syndrome, type 121 test
  • Nephrotic syndrome, type 131 test
  • Nephrotic syndrome, type 171 test
  • Nephrotic syndrome, type 181 test
  • Nephrotic syndrome, type 191 test
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 41 test
  • Nephrotic syndrome, type 5, with or without ocular abnormalities1 test
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 72 tests
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 91 test
  • Nestor-Guillermo progeria syndrome1 test
  • Neu-Laxova syndrome 11 test
  • Neu-laxova syndrome 21 test
  • Neurodegeneration with brain iron accumulation 2b2 tests
  • Neurodegeneration with brain iron accumulation 42 tests
  • Neurodegeneration with brain iron accumulation 52 tests
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurodegeneration with brain iron accumulation 71 test
  • Neurodegeneration with brain iron accumulation 81 test
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, type 12 tests
  • Neurofibromatosis, type 22 tests
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 61 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuropathy, hereditary motor and sensory, Russe type1 test
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE1 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
  • Neutropenia, severe congenital 1, autosomal dominant1 test
  • Neutropenia, severe congenital, 7, autosomal recessive1 test
  • Nicolaides-Baraitser syndrome2 tests
  • Night blindness, congenital stationary (complete), 1A, X-linked1 test
  • Night blindness, congenital stationary (complete), 1B, autosomal recessive1 test
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive1 test
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive1 test
  • Night blindness, congenital stationary (complete), 1E, autosomal recessive1 test
  • Night blindness, congenital stationary (complete), 1F, autosomal recessive1 test
  • Night blindness, congenital stationary (incomplete), 2A, X-linked1 test
  • Night blindness, congenital stationary, type 1g1 test
  • Night blindness, congenital stationary, type 1h1 test
  • Non syndromic Hirschsprung Disease1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
  • Non-ketotic hyperglycinemia2 tests
  • Nonmedullary thyroid carcinoma 11 test
  • Noonan syndrome 11 test
  • Noonan syndrome 101 test
  • Noonan syndrome 21 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 61 test
  • Noonan syndrome 71 test
  • Noonan syndrome 81 test
  • Noonan syndrome 91 test
  • Noonan syndrome-like disorder with loose anagen hair1 test
  • Noonan syndrome-like disorder with loose anagen hair 21 test
  • Norman-Roberts syndrome1 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 21 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 31 test
  • Nystagmus 6, congenital, X-linked1 test
  • Ocular albinism, type I2 tests
  • Oculocutaneous albinism2 tests
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 42 tests
  • OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF1 test
  • Oculofaciocardiodental syndrome1 test
  • Oculotrichoanal syndrome2 tests
  • Oguchi disease1 test
  • Oguchi disease 21 test
  • Oligospermia1 test
  • Oocyte maturation defect 11 test
  • Oocyte maturation defect 21 test
  • Oocyte maturation defect 31 test
  • Oocyte maturation defect 41 test
  • OOCYTE MATURATION DEFECT 51 test
  • Oocyte maturation defect 61 test
  • Opitz GBBB syndrome, type I1 test
  • Opitz GBBB syndrome, type II1 test
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures1 test
  • Optic atrophy 111 test
  • Optic atrophy 31 test
  • Optic atrophy 51 test
  • Optic atrophy 71 test
  • Optic nerve hypoplasia and abnormalities of the central nervous system1 test
  • Orofacial cleft 101 test
  • Orofacial cleft 111 test
  • Orofacial cleft 151 test
  • Orofacial cleft 51 test
  • Orofacial cleft 6, susceptibility to1 test
  • Orofacial cleft 71 test
  • Orofacial cleft 82 tests
  • Orofacial-digital syndrome IV1 test
  • Orofaciodigital syndrome 161 test
  • Orofaciodigital syndrome 171 test
  • Orofaciodigital syndrome 181 test
  • Orofaciodigital syndrome type 61 test
  • Orofaciodigital syndrome V1 test
  • Orofaciodigital syndrome xiv1 test
  • Orofaciodigital syndrome XV1 test
  • Orthostatic hypotension 11 test
  • Orthostatic hypotension 21 test
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 71 test
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta, recessive perinatal lethal1 test
  • Osteogenesis imperfecta, type 181 test
  • Osteogenesis imperfecta, type 191 test
  • Osteogenesis imperfecta, type III/IV1 test
  • Osteogenesis imperfecta, type VI1 test
  • Osteogenesis imperfecta, type XI1 test
  • Osteogenesis imperfecta, type xiii1 test
  • Osteogenesis imperfecta, type xiv1 test
  • Osteogenesis imperfecta, type xv1 test
  • Osteogenesis imperfecta, type xvi1 test
  • Osteogenesis imperfecta, type xvii1 test
  • Osteopetrosis, autosomal dominant 31 test
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis1 test
  • Osteopetrosis, autosomal recessive 51 test
  • Osteopetrosis, autosomal recessive 81 test
  • Oto-palato-digital syndrome, type I1 test
  • Oto-palato-digital syndrome, type II1 test
  • Otofaciocervical syndrome1 test
  • Otofaciocervical syndrome 21 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
  • Ovarian cancer1 test
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 22 tests
  • Ovarian dysgenesis 31 test
  • Ovarian dysgenesis 41 test
  • Ovarian dysgenesis 51 test
  • Ovarian dysgenesis 61 test
  • Ovarian dysgenesis 71 test
  • Ovarian dysgenesis 81 test
  • Pachyonychia congenita syndrome1 test
  • Paganini-Miozzo syndrome1 test
  • Paget disease of bone 2, early-onset1 test
  • Paget disease of bone 31 test
  • Paget disease of bone 61 test
  • Pallister-Hall syndrome1 test
  • Pancreatic agenesis 11 test
  • Pancreatic agenesis 21 test
  • Paragangliomas 11 test
  • Paragangliomas 21 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paragangliomas 51 test
  • Parathyroid adenoma with cystic changes1 test
  • Parietal foramina 11 test
  • Parietal foramina 21 test
  • Parkes Weber syndrome2 tests
  • Parkinson disease3 tests
  • Parkinson disease 11 test
  • Parkinson disease 111 test
  • Parkinson disease 131 test
  • Parkinson disease 141 test
  • Parkinson disease 151 test
  • Parkinson disease 171 test
  • Parkinson disease 181 test
  • Parkinson disease 19a, juvenile-onset1 test
  • Parkinson disease 19b, early-onset1 test
  • Parkinson disease 20, early-onset1 test
  • Parkinson disease 22, autosomal dominant1 test
  • Parkinson disease 23, autosomal recessive early-onset1 test
  • Parkinson disease 41 test
  • Parkinson disease 5, susceptibility to1 test
  • Parkinson disease 6, autosomal recessive early-onset3 tests
  • Parkinson disease 71 test
  • Parkinson disease 8, autosomal dominant1 test
  • Parkinson disease, juvenile, type 21 test
  • Parkinson disease, late-onset1 test
  • Parkinsonism-dystonia, infantile, 12 tests
  • Parkinsonism-dystonia, infantile, 21 test
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Paroxysmal nocturnal hemoglobinuria 21 test
  • Paroxysmal nonkinesigenic dyskinesia 12 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Partington syndrome1 test
  • 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 syndrome 61 test
  • Pelizaeus-Merzbacher disease2 tests
  • Pena-Shokeir syndrome type I1 test
  • Pendred syndrome1 test
  • PERCHING syndrome1 test
  • Periventricular heterotopia with microcephaly1 test
  • Periventricular nodular heterotopia2 tests
  • Periventricular nodular heterotopia 11 test
  • Periventricular nodular heterotopia 61 test
  • Periventricular nodular heterotopia 71 test
  • Periventricular nodular heterotopia 81 test
  • Permanent neonatal diabetes mellitus1 test
  • Peroxisome biogenesis disorder 10A1 test
  • Peroxisome biogenesis disorder 10b1 test
  • Peroxisome biogenesis disorder 11A1 test
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A1 test
  • Peroxisome biogenesis disorder 13A1 test
  • Peroxisome biogenesis disorder 14B1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 1B1 test
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A1 test
  • Peroxisome biogenesis disorder 4a (zellweger)1 test
  • Peroxisome biogenesis disorder 4B1 test
  • Peroxisome biogenesis disorder 5a (zellweger)1 test
  • Peroxisome biogenesis disorder 5B1 test
  • Peroxisome biogenesis disorder 6A1 test
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A1 test
  • Peroxisome biogenesis disorder 7B1 test
  • Peroxisome biogenesis disorder 8A1 test
  • Peroxisome biogenesis disorder 8B1 test
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorder type 3B1 test
  • Perrault syndrome 11 test
  • Perrault syndrome 21 test
  • Perrault syndrome 31 test
  • Perrault syndrome 41 test
  • Perrault syndrome 51 test
  • Perrault syndrome 61 test
  • Perry syndrome1 test
  • Persistent hyperplastic primary vitreous2 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive1 test
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome2 tests
  • Pfeiffer syndrome1 test
  • Pfeiffer syndrome type 21 test
  • Pfeiffer syndrome, type III1 test
  • Pfieffer syndrome type 11 test
  • Phenylketonuria1 test
  • Pheochromocytoma-Paraganglioma2 tests
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Pigmentary pallidal degeneration2 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented nodular adrenocortical disease, primary, 31 test
  • Pigmented nodular adrenocortical disease, primary, 41 test
  • Pituitary adenoma 2, GH-secreting1 test
  • Pituitary adenoma 3, multiple types1 test
  • Pituitary adenoma 5, multiple types1 test
  • Pituitary adenoma predisposition1 test
  • Pituitary dependent hypercortisolism1 test
  • Pituitary hormone deficiency, combined1 test
  • Pituitary hormone deficiency, combined 21 test
  • Pituitary hormone deficiency, combined 51 test
  • Pituitary hormone deficiency, combined 61 test
  • Pituitary hormone deficiency, combined, 11 test
  • PLA2G6-associated neurodegeneration1 test
  • Platelet glycoprotein IV 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 171 test
  • Platelet-type bleeding disorder 181 test
  • Platelet-type bleeding disorder 191 test
  • Platelet-type bleeding disorder 201 test
  • Platelet-type bleeding disorder 81 test
  • Platelet-type bleeding disorder 91 test
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis1 test
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease 31 test
  • Polycystic kidney disease 51 test
  • Polycystic kidney disease 6 with or without polycystic liver disease1 test
  • Polycystic kidney disease, adult type1 test
  • Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
  • Polycystic liver disease 15 tests
  • Polycystic liver disease 21 test
  • Polycystic liver disease 3 with or without kidney cysts1 test
  • Polycystic liver disease 4 with or without kidney cysts1 test
  • Polydactyly, preaxial type II1 test
  • Polyglucosan body myopathy 1 with or without immunodeficiency1 test
  • Polyglucosan body myopathy 21 test
  • Polymicrogyria with optic nerve hypoplasia1 test
  • Polymicrogyria, asymmetric1 test
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 21 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 2D1 test
  • Pontocerebellar hypoplasia type 31 test
  • Pontocerebellar hypoplasia type 42 tests
  • Pontocerebellar hypoplasia type 52 tests
  • Pontocerebellar hypoplasia type 61 test
  • Pontocerebellar hypoplasia type 81 test
  • Pontocerebellar hypoplasia, type 101 test
  • Pontocerebellar hypoplasia, type 111 test
  • Pontocerebellar hypoplasia, type 121 test
  • Pontocerebellar hypoplasia, type 1b2 tests
  • Pontocerebellar hypoplasia, type 1c1 test
  • Pontocerebellar hypoplasia, type 1d1 test
  • Pontocerebellar hypoplasia, type 2e1 test
  • Pontocerebellar hypoplasia, type 2f1 test
  • Pontocerebellar hypoplasia, type 71 test
  • Pontocerebellar hypoplasia, type 91 test
  • Popliteal pterygium syndrome2 tests
  • Porencephaly 21 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Porokeratosis 7, multiple types1 test
  • Porokeratosis 8, disseminated superficial actinic type1 test
  • Porokeratosis 9, multiple types1 test
  • Porokeratosis of Mibelli1 test
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 31 test
  • Preaxial hand polydactyly1 test
  • Preaxial polydactyly 41 test
  • Precocious puberty, central, 11 test
  • Precocious puberty, central, 21 test
  • Preeclampsia/eclampsia 41 test
  • Preeclampsia/eclampsia 51 test
  • Preimplantation embryonic lethality1 test
  • Preimplantation embryonic lethality 21 test
  • prelingual nonsyndromic hearing loss1 test
  • Premature ovarian failure2 tests
  • Premature ovarian failure 11 test
  • Premature ovarian failure 101 test
  • Premature ovarian failure 111 test
  • Premature ovarian failure 121 test
  • Premature ovarian failure 131 test
  • Premature ovarian failure 141 test
  • Premature ovarian failure 151 test
  • Premature ovarian failure 2a1 test
  • Premature ovarian failure 31 test
  • Premature ovarian failure 42 tests
  • Premature ovarian failure 51 test
  • Premature ovarian failure 61 test
  • Premature ovarian failure 71 test
  • Premature ovarian failure 81 test
  • Premature ovarian failure 91 test
  • Primary adrenocortical insufficiency1 test
  • Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders1 test
  • Primary autosomal recessive microcephaly 11 test
  • Primary autosomal recessive microcephaly 101 test
  • Primary autosomal recessive microcephaly 111 test
  • Primary autosomal recessive microcephaly 121 test
  • Primary autosomal recessive microcephaly 131 test
  • Primary autosomal recessive microcephaly 141 test
  • Primary autosomal recessive microcephaly 151 test
  • Primary autosomal recessive microcephaly 21 test
  • Primary autosomal recessive microcephaly 31 test
  • Primary autosomal recessive microcephaly 41 test
  • Primary autosomal recessive microcephaly 51 test
  • Primary autosomal recessive microcephaly 61 test
  • Primary autosomal recessive microcephaly 71 test
  • Primary autosomal recessive microcephaly 81 test
  • Primary autosomal recessive microcephaly 91 test
  • Primary ciliary dyskinesia 231 test
  • Primary ciliary dyskinesia 241 test
  • Primary ciliary dyskinesia 251 test
  • Primary erythromelalgia1 test
  • Primary familial polycythemia due to EPO receptor mutation2 tests
  • Primary hyperoxaluria, type I3 tests
  • Primary hyperoxaluria, type II2 tests
  • Primary hyperoxaluria, type III2 tests
  • Primary hypertrophic osteoarthropathy, autosomal recessive 21 test
  • Primary hypomagnesemia1 test
  • Primary localized cutaneous amyloidosis 11 test
  • Primary pulmonary hypertension 21 test
  • Primary pulmonary hypertension 31 test
  • Primary pulmonary hypertension 41 test
  • Progressive bulbar palsy of childhood1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 61 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
  • Progressive familial heart block type IB1 test
  • Progressive familial intrahepatic cholestasis 21 test
  • Progressive familial intrahepatic cholestasis 31 test
  • Progressive familial intrahepatic cholestasis 41 test
  • Progressive myoclonus epilepsy with ataxia2 tests
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive sclerosing poliodystrophy2 tests
  • Progressive supranuclear ophthalmoplegia1 test
  • Prolidase deficiency2 tests
  • Proopiomelanocortin deficiency1 test
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms1 test
  • Proteasome-associated autoinflammatory syndrome 21 test
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms1 test
  • PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC1 test
  • Proteus syndrome1 test
  • Protoporphyria, erythropoietic, 13 tests
  • Protoporphyria, erythropoietic, X-linked2 tests
  • Pseudo von Willebrand disease1 test
  • Pseudo-TORCH syndrome 11 test
  • Pseudo-TORCH syndrome 21 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • Pseudohypoaldosteronism type 2A1 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudoxanthoma elasticum2 tests
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis susceptibility 11 test
  • Psoriasis susceptibility 131 test
  • Psoriasis susceptibility 21 test
  • Psoriasis, protection against1 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 31 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 41 test
  • Pulmonary fibrosis, idiopathic, susceptibility to1 test
  • Pulmonary hypertension, familial primary, 1, with or without HHT1 test
  • Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated1 test
  • Pulmonary venoocclusive disease 11 test
  • Pustular psoriasis, generalized1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate carboxylase deficiency1 test
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Pyruvate dehydrogenase E1-beta deficiency1 test
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency1 test
  • Quebec platelet disorder1 test
  • Radial aplasia-thrombocytopenia syndrome3 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 21 test
  • Rapp-Hodgkin ectodermal dysplasia syndrome1 test
  • Recurrent pregnancy loss 41 test
  • Refsum disease, adult, 11 test
  • Refsum disease, adult, 21 test
  • Renal cell carcinoma, papillary, 12 tests
  • Renal coloboma syndrome1 test
  • Renal hypodysplasia/aplasia 11 test
  • Renal hypodysplasia/aplasia 21 test
  • Renal hypodysplasia/aplasia 31 test
  • Renal hypomagnesemia 21 test
  • Renal-hepatic-pancreatic dysplasia 11 test
  • Renal-hepatic-pancreatic dysplasia 21 test
  • Renpenning syndrome 11 test
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal dystrophy, early-onset severe1 test
  • Retinal dystrophy, early-onset, with or without pituitary dysfunction1 test
  • Retinitis pigmentosa2 tests
  • Retinitis pigmentosa 11 test
  • Retinitis pigmentosa 101 test
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 121 test
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 141 test
  • Retinitis pigmentosa 151 test
  • Retinitis pigmentosa 171 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 251 test
  • Retinitis pigmentosa 261 test
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 301 test
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 391 test
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 481 test
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 501 test
  • Retinitis pigmentosa 511 test
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 642 tests
  • Retinitis pigmentosa 652 tests
  • Retinitis pigmentosa 661 test
  • Retinitis pigmentosa 671 test
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 71 test
  • Retinitis pigmentosa 7 and digenic form1 test
  • Retinitis pigmentosa 7, digenic form2 tests
  • Retinitis pigmentosa 701 test
  • Retinitis pigmentosa 711 test
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 731 test
  • Retinitis pigmentosa 741 test
  • Retinitis pigmentosa 751 test
  • Retinitis pigmentosa 761 test
  • Retinitis pigmentosa 771 test
  • Retinitis pigmentosa 781 test
  • Retinitis pigmentosa 791 test
  • Retinitis pigmentosa 801 test
  • Retinitis pigmentosa 811 test
  • Retinitis pigmentosa 82 with or without situs inversus1 test
  • Retinitis pigmentosa 831 test
  • Retinitis pigmentosa 841 test
  • Retinitis pigmentosa 851 test
  • Retinitis pigmentosa, juvenile1 test
  • Retinitis pigmentosa, juvenile, autosomal recessive1 test
  • RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED1 test
  • Retinoblastoma2 tests
  • Retinopathy of prematurity3 tests
  • Revesz syndrome1 test
  • Rhabdoid tumor predisposition syndrome 11 test
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhabdoid tumors, somatic1 test
  • Rhizomelic chondrodysplasia punctata type 12 tests
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Rhizomelic chondrodysplasia punctata type 51 test
  • Ritscher-schinzel syndrome 21 test
  • Roberts-SC phocomelia syndrome1 test
  • Robinow syndrome, autosomal dominant 11 test
  • Robinow syndrome, autosomal dominant 21 test
  • Robinow syndrome, autosomal dominant 31 test
  • Robinow syndrome, autosomal recessive2 tests
  • Rothmund-Thomson syndrome2 tests
  • Rotor syndrome2 tests
  • Rubinstein-Taybi syndrome 11 test
  • Rubinstein-Taybi syndrome 21 test
  • Saethre-Chotzen syndrome2 tests
  • Saldino-Mainzer syndrome1 test
  • Salla disease1 test
  • Sarcotubular myopathy1 test
  • Schimke immuno-osseous dysplasia1 test
  • Schuurs-hoeijmakers syndrome1 test
  • SCHWANNOMATOSIS, SOMATIC1 test
  • Schwannomatosis-1, susceptibility to1 test
  • Schwannomatosis-2, susceptibility to1 test
  • Sclerosteosis 11 test
  • Sclerosteosis 21 test
  • SCOTT SYNDROME1 test
  • Seckel syndrome 11 test
  • Seckel syndrome 101 test
  • Seckel syndrome 21 test
  • Seckel syndrome 41 test
  • Seckel syndrome 51 test
  • Seckel syndrome 61 test
  • Seckel syndrome 71 test
  • Seckel syndrome 81 test
  • Seckel syndrome 91 test
  • Secondary hypothyroidism1 test
  • Seizures, benign familial infantile, 21 test
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial infantile, 51 test
  • Seizures, benign neonatal, 11 test
  • Seizures, benign neonatal, 21 test
  • Selective tooth agenesis 11 test
  • Sengers syndrome1 test
  • Senior-Loken syndrome 11 test
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 51 test
  • Senior-Loken syndrome 61 test
  • Senior-Loken syndrome 71 test
  • Senior-Loken syndrome 81 test
  • Senior-Loken syndrome 91 test
  • Sensorineural deafness with mild renal dysfunction1 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Septo-optic dysplasia sequence1 test
  • Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
  • Severe combined immunodeficiency due to CARMIL2 deficiency1 test
  • Severe combined immunodeficiency due to CD70 deficiency1 test
  • Severe congenital neutropenia 2, autosomal dominant1 test
  • Severe congenital neutropenia 4, autosomal recessive1 test
  • Severe congenital neutropenia 5, autosomal recessive1 test
  • Severe congenital neutropenia 6, autosomal recessive1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Severe X-linked myotubular myopathy3 tests
  • Short QT syndrome 11 test
  • Short QT syndrome 21 test
  • Short QT syndrome 31 test
  • Short rib-polydactyly syndrome, Majewski type1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
  • SHORT syndrome1 test
  • Short-rib thoracic dysplasia 10 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 11 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 13 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 14 with polydactyly1 test
  • Short-rib thoracic dysplasia 15 with polydactyly1 test
  • Short-rib thoracic dysplasia 16 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 17 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 18 with polydactyly1 test
  • Short-rib thoracic dysplasia 19 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 20 with polydactyly1 test
  • Short-rib thoracic dysplasia 3 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 8 with or without polydactyly1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman-Diamond syndrome 13 tests
  • Shwachman-Diamond syndrome 21 test
  • Sialuria1 test
  • Sick sinus syndrome 1, autosomal recessive1 test
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sick sinus syndrome 3, susceptibility to1 test
  • Sideroblastic anemia 3, pyridoxine-refractory1 test
  • Singleton-Merten syndrome 11 test
  • Singleton-Merten syndrome 21 test
  • Sitosterolemia1 test
  • Skin creases, congenital symmetric circumferential, 21 test
  • SLC35A2-CDG2 tests
  • SLC39A8-CDG1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-McCort dysplasia1 test
  • Smith-McCort dysplasia 21 test
  • Solid tumor2 tests
  • Somatotroph adenoma1 test
  • Sotos syndrome 11 test
  • Sotos syndrome 21 test
  • Sotos syndrome 31 test
  • Spastic ataxia 5, autosomal recessive1 test
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
  • Spastic ataxia 9, autosomal recessive1 test
  • Spastic paraplegia 11, autosomal recessive2 tests
  • Spastic paraplegia 172 tests
  • Spastic paraplegia 28, autosomal recessive1 test
  • Spastic paraplegia 30, autosomal recessive1 test
  • Spastic paraplegia 31, autosomal dominant1 test
  • Spastic paraplegia 33, autosomal dominant1 test
  • Spastic paraplegia 352 tests
  • Spastic paraplegia 3A, autosomal dominant1 test
  • Spastic paraplegia 4, autosomal dominant3 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 621 test
  • Spastic paraplegia 63, autosomal recessive1 test
  • Spastic paraplegia 64, 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 recessive1 test
  • Spastic paraplegia 80, autosomal dominant1 test
  • Spastic paraplegia 9b, autosomal recessive1 test
  • Specific granule deficiency 11 test
  • Specific granule deficiency 21 test
  • Specific language impairment 51 test
  • Spermatogenic failure 101 test
  • Spermatogenic failure 111 test
  • Spermatogenic failure 121 test
  • Spermatogenic failure 131 test
  • Spermatogenic failure 141 test
  • Spermatogenic failure 151 test
  • Spermatogenic failure 161 test
  • Spermatogenic failure 171 test
  • Spermatogenic failure 181 test
  • Spermatogenic failure 191 test
  • Spermatogenic failure 201 test
  • Spermatogenic failure 211 test
  • Spermatogenic failure 221 test
  • Spermatogenic failure 231 test
  • Spermatogenic failure 241 test
  • Spermatogenic failure 251 test
  • Spermatogenic failure 261 test
  • Spermatogenic failure 271 test
  • Spermatogenic failure 281 test
  • Spermatogenic failure 291 test
  • Spermatogenic failure 31 test
  • Spermatogenic failure 301 test
  • Spermatogenic failure 311 test
  • Spermatogenic failure 321 test
  • Spermatogenic failure 331 test
  • Spermatogenic failure 341 test
  • Spermatogenic failure 351 test
  • Spermatogenic failure 361 test
  • Spermatogenic failure 371 test
  • Spermatogenic failure 381 test
  • Spermatogenic failure 41 test
  • Spermatogenic failure 71 test
  • Spermatogenic failure 81 test
  • Spermatogenic failure 91 test
  • Spermatogenic failure, X-linked, 21 test
  • Spermatogenic failure, Y-linked 21 test
  • Spheroid body myopathy1 test
  • Spinal muscular atrophy with congenital bone fractures 11 test
  • Spinal muscular atrophy with congenital bone fractures 21 test
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1 test
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1 test
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
  • Spinal muscular atrophy, scapuloperoneal1 test
  • Spinocerebellar ataxia 29, congenital nonprogressive1 test
  • Spinocerebellar ataxia 351 test
  • Spinocerebellar ataxia 361 test
  • Spinocerebellar ataxia 371 test
  • Spinocerebellar ataxia 381 test
  • Spinocerebellar ataxia 401 test
  • Spinocerebellar ataxia 411 test
  • Spinocerebellar ataxia 421 test
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia 441 test
  • Spinocerebellar ataxia 451 test
  • Spinocerebellar ataxia 461 test
  • Spinocerebellar ataxia 471 test
  • Spinocerebellar ataxia 481 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 112 tests
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 132 tests
  • Spinocerebellar ataxia type 142 tests
  • Spinocerebellar Ataxia Type 153 tests
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 22 tests
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 282 tests
  • Spinocerebellar ataxia type 311 test
  • Spinocerebellar ataxia type 341 test
  • Spinocerebellar ataxia type 41 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia, autosomal recessive 101 test
  • Spinocerebellar ataxia, autosomal recessive 111 test
  • Spinocerebellar ataxia, autosomal recessive 121 test
  • Spinocerebellar ataxia, autosomal recessive 131 test
  • Spinocerebellar ataxia, autosomal recessive 141 test
  • Spinocerebellar ataxia, autosomal recessive 151 test
  • 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 201 test
  • Spinocerebellar ataxia, autosomal recessive 211 test
  • Spinocerebellar ataxia, autosomal recessive 221 test
  • Spinocerebellar ataxia, autosomal recessive 231 test
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive 251 test
  • Spinocerebellar ataxia, autosomal recessive 261 test
  • Spinocerebellar ataxia, autosomal recessive 271 test
  • Spinocerebellar ataxia, autosomal recessive 82 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
  • Split-hand/foot malformation 1 with sensorineural hearing loss1 test
  • Split-hand/foot malformation 42 tests
  • Split-hand/foot malformation 61 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like1 test
  • Spondylocostal dysostosis 1, autosomal recessive1 test
  • Spondylocostal dysostosis 2, autosomal recessive1 test
  • Spondylocostal dysostosis 3, autosomal recessive1 test
  • Spondylocostal dysostosis 4, autosomal recessive1 test
  • Spondylocostal dysostosis 51 test
  • Spondylocostal dysostosis 6, autosomal recessive1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 21 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 31 test
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome type 11 test
  • Stickler syndrome type 21 test
  • Stickler syndrome, type 41 test
  • Stickler syndrome, type 51 test
  • Stickler syndrome, type I, nonsyndromic ocular1 test
  • Stocco dos Santos syndrome1 test
  • Striatonigral degeneration infantile1 test
  • Striatonigral degeneration, childhood-onset1 test
  • Stuttering, familial persistent 11 test
  • Subcortical band heterotopia1 test
  • Subcortical laminal heterotopia, X-linked1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria1 test
  • Surfactant metabolism dysfunction, pulmonary, 11 test
  • Surfactant metabolism dysfunction, pulmonary, 21 test
  • Surfactant metabolism dysfunction, pulmonary, 31 test
  • Surfactant metabolism dysfunction, pulmonary, 41 test
  • Surfactant metabolism dysfunction, pulmonary, 51 test
  • Symmetric circumferential skin creases, congenital, 11 test
  • Symmetrical dyschromatosis of extremities1 test
  • Symphalangism, proximal, 1A1 test
  • Symphalangism, proximal, 1B1 test
  • Symphalangism-brachydactyly syndrome1 test
  • Syndromic Hirschsprung Disease1 test
  • Syndromic mental retardation, Nascimento type, X-linked1 test
  • Syndromic microphthalmia type 51 test
  • Syndromic X-linked intellectual disability Lubs type2 tests
  • Syndromic X-linked intellectual disability Snyder type1 test
  • Syndromic X-linked mental retardation 161 test
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • temperature sensitive nonsyndromic auditory neuropathy1 test
  • Terminal osseous dysplasia1 test
  • Tetraamelia, autosomal recessive1 test
  • Thanatophoric dysplasia type 11 test
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)1 test
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)1 test
  • Thiamine Transporter-2 Deficiency1 test
  • Thiopurine methyltransferase deficiency1 test
  • Thiopurines, poor metabolism of, 21 test
  • Thrombocythemia 11 test
  • Thrombocythemia 31 test
  • Thrombocytopenia1 test
  • Thrombocytosis, benign familial microcytic1 test
  • Thromboembolism, susceptibility to1 test
  • Thrombophilia due to elevated HRG1 test
  • Thrombophilia due to factor V Leiden2 tests
  • Thrombophilia due to HRG deficiency1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thrombophilia due to thrombin defect2 tests
  • Thrombophilia due to thrombomodulin defect1 test
  • Thrombophilia, familial, due to decreased release of PLAT1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1 test
  • Thrombophilia, susceptibility to, due to factor V Leiden1 test
  • Thrombophilia, X-linked, due to factor IX defect1 test
  • Thromboxane synthase deficiency1 test
  • Thyroid cancer, nonmedullary, 21 test
  • Thyroid cancer, nonmedullary, 41 test
  • Thyroid cancer, nonmedullary, 51 test
  • Thyrotoxic periodic paralysis 21 test
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Timothy syndrome2 tests
  • TMEM199-CDG1 test
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 41 test
  • Tooth agenesis, selective, 71 test
  • Tooth agenesis, selective, 81 test
  • Tooth agenesis, selective, 91 test
  • Tooth agenesis, selective, X-linked, 11 test
  • Torsion dystonia 21 test
  • Torsion dystonia 61 test
  • Townes-Brocks syndrome 11 test
  • Townes-Brocks syndrome 21 test
  • Townes-Brocks-branchiootorenal-like syndrome1 test
  • Treacher Collins syndrome2 tests
  • Tremor, hereditary essential, 41 test
  • Tremor, hereditary essential, 51 test
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1 test
  • Trichorhinophalangeal dysplasia type I2 tests
  • Trichothiodystrophy 1, photosensitive1 test
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy 5, nonphotosensitive1 test
  • Trichothiodystrophy 6, nonphotosensitive1 test
  • Trichothiodystrophy, nonphotosensitive 11 test
  • Trigonocephaly 11 test
  • Trigonocephaly 21 test
  • Trimethylaminuria1 test
  • Triphalangeal thumb polysyndactyly syndrome1 test
  • Triphalangeal thumb, type I1 test
  • Troyer syndrome2 tests
  • Tsc2 angiomyolipomas, renal, modifier of1 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Tubulinopathies1 test
  • Tyrosinase-negative oculocutaneous albinism2 tests
  • Ubiquitous Glucose-6-Phosphatase Deficiency1 test
  • Ullrich congenital muscular dystrophy 12 tests
  • Ullrich congenital muscular dystrophy 21 test
  • Urofacial syndrome 11 test
  • Urofacial syndrome 21 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1F1 test
  • Usher syndrome type 2c, GPR98/PDZD digenic1 test
  • Usher syndrome, type 1B1 test
  • Usher syndrome, type 1C1 test
  • Usher syndrome, type 1D/F digenic1 test
  • Usher syndrome, type 1G1 test
  • Usher syndrome, type 1J1 test
  • Usher syndrome, type 2A1 test
  • Usher syndrome, type 2C1 test
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic1 test
  • Usher syndrome, type 2D1 test
  • Usher syndrome, type 3B1 test
  • Usher syndrome, type 41 test
  • Usher Syndrome, Type III1 test
  • UV-sensitive syndrome 11 test
  • UV-sensitive syndrome 21 test
  • UV-sensitive syndrome 31 test
  • VACTERL association with hydrocephalus1 test
  • van der Woude syndrome 12 tests
  • Van Maldergem syndrome 11 test
  • Van Maldergem syndrome 21 test
  • Variegate porphyria1 test
  • Venous thromboembolism, susceptibility to1 test
  • Ventricular septal defect 11 test
  • Ventricular septal defect 21 test
  • Ventricular septal defect 31 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 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
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Vesicoureteral reflux 81 test
  • 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
  • Von Hippel-Lindau syndrome2 tests
  • von Willebrand disorder2 tests
  • Waardenburg syndrome type 13 tests
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C1 test
  • Waardenburg syndrome/albinism, digenic1 test
  • Waardenburg syndrome/ocular albinism, digenic1 test
  • Wagner syndrome1 test
  • Warburg micro syndrome 11 test
  • Warburg micro syndrome 21 test
  • Warburg micro syndrome 31 test
  • Warburg micro syndrome 41 test
  • Weaver syndrome1 test
  • Weill-Marchesani syndrome 11 test
  • Weill-Marchesani syndrome 21 test
  • Weill-Marchesani syndrome 3, recessive1 test
  • Weill-Marchesani syndrome 41 test
  • Werner syndrome2 tests
  • White sponge nevus 11 test
  • White sponge nevus 21 test
  • White-sutton syndrome1 test
  • Wieacker-Wolff syndrome1 test
  • Wilms tumor 13 tests
  • Wilms tumor 21 test
  • Wilms tumor 61 test
  • Wilms tumor susceptibility-51 test
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome2 tests
  • Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome2 tests
  • Wilson-Turner syndrome1 test
  • Wiskott-Aldrich syndrome3 tests
  • Wolfram syndrome1 test
  • Wolfram syndrome 11 test
  • Woolly hair, autosomal recessive 2, with or without hypotrichosis1 test
  • WT1-Related Disorders1 test
  • X-linked agammaglobulinemia4 tests
  • X-linked agammaglobulinemia with growth hormone deficiency1 test
  • X-linked cone-rod dystrophy 31 test
  • X-linked dystonia-parkinsonism2 tests
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome1 test
  • X-linked intellectual disability1 test
  • X-linked lissencephaly with ambigious genitalia1 test
  • X-Linked Mental Retardation 411 test
  • X-Linked mental retardation 901 test
  • X-linked severe combined immunodeficiency1 test
  • X-linked severe congenital neutropenia1 test
  • X-linked sideroblastic anemia with ataxia1 test
  • X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea1 test
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum2 tests
  • Xia-Gibbs syndrome1 test
  • ZAP70-Related Severe Combined Immunodeficiency1 test
  • Zimmermann-Laband syndrome 11 test
  • Zimmermann-Laband syndrome 21 test
  • ZNF711-Related X-linked Mental Retardation1 test
  • Zonular pulverulent cataract 31 test

List of services

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

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

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