GTR Home > Laboratories > Centogene AG - the Rare Disease Company

Centogene AG - the Rare Disease Company

GTR Lab ID: 279559, Last updated:2017-07-25

Personnel

Conditions and tests

  • 2,4-Dienoyl-CoA reductase deficiency1 test
  • 2-aminoadipic 2-oxoadipic aciduria2 tests
  • 2-methyl-3-hydroxybutyric aciduria3 tests
  • 21-hydroxylase deficiency1 test
  • 22q13.3 deletion syndrome3 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency3 tests
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency3 tests
  • 3-methylcrotonyl CoA carboxylase 2 deficiency3 tests
  • 3-Methylglutaconic aciduria3 tests
  • 3-Methylglutaconic aciduria type 23 tests
  • 3-Methylglutaconic aciduria type 33 tests
  • 3-methylglutaconic aciduria type V4 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome3 tests
  • 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency3 tests
  • 4-Hydroxyphenylpyruvate dioxygenase deficiency3 tests
  • 46,XX sex reversal, type 11 test
  • 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy2 tests
  • 46,XY sex reversal 81 test
  • 46,XY sex reversal, type 22 tests
  • 5-Oxoprolinase deficiency3 tests
  • 6-pyruvoyl-tetrahydropterin synthase deficiency3 tests
  • Aarskog syndrome3 tests
  • Aase syndrome1 test
  • Abetalipoproteinaemia1 test
  • Absent corpus callosum cataract immunodeficiency1 test
  • Accelerated tumor formation, susceptibility to1 test
  • Acetyl-CoA: carboxylase deficiency2 tests
  • Acetylcholinesterase deficiency1 test
  • Achondrogenesis, type IB2 tests
  • Achondroplasia1 test
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Achromatopsia 61 test
  • Acid phosphatase deficiency1 test
  • Acne inversa, familial, 34 tests
  • Acquired hemoglobin H disease2 tests
  • Acrocallosal syndrome, Schinzel type2 tests
  • Acrocephalosyndactyly type I3 tests
  • Acrodysostosis 2, with or without hormone resistance1 test
  • Acroerythrokeratoderma1 test
  • Acromegaly, predisposition to, due to germline GPR101 mutation1 test
  • Acromelic frontonasal dysostosis1 test
  • Acromicric dysplasia2 tests
  • ACTH deficiency3 tests
  • ACTH resistance1 test
  • Acute lymphoid leukemia5 tests
  • Acute myeloid leukemia17 tests
  • Acute promyelocytic leukemia2 tests
  • Acyl-CoA dehydrogenase family, member 9, deficiency of4 tests
  • Adams-Oliver syndrome 11 test
  • Adams-Oliver syndrome 21 test
  • Adams-Oliver syndrome 31 test
  • Adams-Oliver syndrome 41 test
  • Adams-Oliver syndrome 51 test
  • Adams-Oliver syndrome 61 test
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenocarcinoma of lung3 tests
  • Adenosine triphosphate, elevated, of erythrocytes2 tests
  • Adenylosuccinate lyase deficiency4 tests
  • Adolescent nephronophthisis1 test
  • Adrenocortical carcinoma, hereditary1 test
  • Adrenoleukodystrophy4 tests
  • Adult hypophosphatasia1 test
  • Adult junctional epidermolysis bullosa3 tests
  • Adult onset ataxia with oculomotor apraxia1 test
  • ADULT syndrome2 tests
  • Afibrinogenemia, congenital3 tests
  • Agammaglobulinemia 2, autosomal recessive4 tests
  • Agammaglobulinemia 3, autosomal recessive4 tests
  • Agammaglobulinemia 4, autosomal recessive4 tests
  • Agammaglobulinemia 5, autosomal dominant4 tests
  • Agammaglobulinemia 6, autosomal recessive4 tests
  • Agammaglobulinemia 7, autosomal recessive2 tests
  • Agammaglobulinemia, microcephaly, and severe dermatitis1 test
  • Agammaglobulinemia, non-Bruton type2 tests
  • Agammaglobulinemia, X-linked 11 test
  • Age-related macular degeneration 111 test
  • Age-related macular degeneration 32 tests
  • Age-related macular degeneration 61 test
  • Age-related macular degeneration 81 test
  • AICAR transformylase/IMP cyclohydrolase deficiency1 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi Goutieres syndrome 12 tests
  • Aicardi Goutieres syndrome 22 tests
  • Aicardi Goutieres syndrome 32 tests
  • Aicardi Goutieres syndrome 42 tests
  • Aicardi Goutieres syndrome 52 tests
  • Aicardi-goutieres syndrome 61 test
  • AL-RAQAD SYNDROME1 test
  • Alagille syndrome 13 tests
  • Alagille syndrome 22 tests
  • Albinism1 test
  • Albinism, ocular, with sensorineural deafness2 tests
  • Albinism, oculocutaneous, type V1 test
  • Albinism, oculocutaneous, type VII1 test
  • Alexander's disease2 tests
  • Alkaptonuria2 tests
  • Allan-Herndon-Dudley syndrome2 tests
  • Alopecia universalis congenita2 tests
  • alpha Thalassemia2 tests
  • Alpha-1-antitrypsin deficiency4 tests
  • Alpha-2-macroglobulin deficiency1 test
  • Alpha-B crystallinopathy3 tests
  • Alpha-ketoglutarate dehydrogenase deficiency3 tests
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity3 tests
  • Alport syndrome1 test
  • Alport syndrome, autosomal recessive4 tests
  • Alport syndrome, X-linked recessive1 test
  • Alstrom syndrome4 tests
  • Alveolar capillary dysplasia with misalignment of pulmonary veins2 tests
  • Alzheimer disease 181 test
  • Alzheimer disease 22 tests
  • Alzheimer disease, type 11 test
  • Alzheimer disease, type 33 tests
  • Alzheimer disease, type 42 tests
  • Alzheimer disease, type 61 test
  • Alzheimer's disease2 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amelogenesis imperfecta, hypomaturation type IIA41 test
  • Amelogenesis imperfecta, hypomaturation type, IIA11 test
  • Amelogenesis imperfecta, hypomaturation type, IIA21 test
  • Amelogenesis imperfecta, hypomaturation type, IIA31 test
  • Amelogenesis imperfecta, type 1E1 test
  • Amelogenesis imperfecta, type IA2 tests
  • Amelogenesis imperfecta, type IC1 test
  • Amelogenesis imperfecta, type IF1 test
  • Amelogenesis imperfecta, type IH1 test
  • Amelogenesis imperfecta, type IV1 test
  • Amelotin deficiency1 test
  • Aminoacylase 1 deficiency1 test
  • Aminoglycoside-induced deafness3 tests
  • Amish infantile epilepsy syndrome4 tests
  • Amish lethal microcephaly4 tests
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyloidosis hereditary1 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis4 tests
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis 16, juvenile2 tests
  • Amyotrophic lateral sclerosis 172 tests
  • Amyotrophic lateral sclerosis 182 tests
  • Amyotrophic lateral sclerosis 191 test
  • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 12 tests
  • Amyotrophic lateral sclerosis type 13 tests
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 122 tests
  • Amyotrophic lateral sclerosis type 22 tests
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 61 test
  • Amyotrophic lateral sclerosis type 82 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Amyotrophic lateral sclerosis-parkinsonism/dementia complex 11 test
  • Amyotrophy, hereditary neuralgic1 test
  • Anauxetic dysplasia 12 tests
  • Andermann syndrome2 tests
  • Androgen-binding protein deficiency1 test
  • Anemia sideroblastic and spinocerebellar ataxia3 tests
  • Anemia without thromobocytopenia, X-linked3 tests
  • ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib2 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency3 tests
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive3 tests
  • Angelman syndrome5 tests
  • Angelman syndrome-like2 tests
  • Angioedema, hereditary, autosomal recessive1 test
  • Anhaptoglobinemia1 test
  • Aniridia 12 tests
  • Anophthalmia-microphthalmia syndrome2 tests
  • Anterior segment dysgenesis 71 test
  • Anterior segment mesenchymal dysgenesis1 test
  • Antithrombin III deficiency3 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis3 tests
  • Aortic aneurysm, familial thoracic 101 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic aneurysm, familial thoracic 91 test
  • Aortic valve disease 21 test
  • Aortic valve disorder3 tests
  • Aplastic anemia9 tests
  • Apolipoprotein C2 deficiency3 tests
  • Apparent mineralocorticoid excess1 test
  • Arginase deficiency3 tests
  • Arginine:glycine amidinotransferase deficiency3 tests
  • Argininosuccinate lyase deficiency3 tests
  • Aromatase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy1 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 cardiomyopathy, type 82 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 91 test
  • Arrhythmogenic right ventricular dysplasia, familial 11 test
  • Arterial calcification of infancy1 test
  • Arterial tortuosity syndrome2 tests
  • Arthrogryposis multiplex congenita1 test
  • Arthrogryposis multiplex congenita distal type 12 tests
  • Arthrogryposis renal dysfunction cholestasis syndrome1 test
  • Arthrogryposis, distal, type 5d1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 21 test
  • Arts syndrome4 tests
  • Ashkenazi Jewish disorders2 tests
  • Asparagine synthetase deficiency2 tests
  • Aspartylglycosaminuria4 tests
  • Asperger syndrome X-linked 12 tests
  • Asphyxiating thoracic dystrophy 41 test
  • Ataxia1 test
  • Ataxia with vitamin E deficiency2 tests
  • Ataxia, sensory, autosomal dominant1 test
  • Ataxia, spastic, 1, autosomal dominant2 tests
  • Ataxia, spastic, 2, autosomal recessive2 tests
  • Ataxia, spastic, 3, autosomal recessive2 tests
  • Ataxia, spastic, 4, autosomal recessive1 test
  • Ataxia-oculomotor apraxia 33 tests
  • Ataxia-telangiectasia syndrome3 tests
  • Ataxia-telangiectasia-like disorder 14 tests
  • Ateleiotic dwarfism1 test
  • Atelosteogenesis type 11 test
  • Atelosteogenesis type 22 tests
  • Atelosteogenesis type 31 test
  • Athabaskan brainstem dysgenesis2 tests
  • ATR-X syndrome2 tests
  • Atrial fibrillation, familial, 101 test
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 33 tests
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 71 test
  • Atrial septal defect 22 tests
  • Atrial septal defect 31 test
  • Atrial septal defect 42 tests
  • Atrial septal defect 7 with or without atrioventricular conduction defects2 tests
  • Atrial septal defect 82 tests
  • Atrial septal defect 92 tests
  • Atrichia with papular lesions2 tests
  • Atrioventricular septal defect 21 test
  • Atrioventricular septal defect 41 test
  • Atrioventricular septal defect 52 tests
  • Atrophia bulborum hereditaria2 tests
  • Attention deficit hyperactivity disorder1 test
  • Atypical hemolytic uremic syndrome1 test
  • Atypical hemolytic-uremic syndrome 13 tests
  • Atypical hemolytic-uremic syndrome 21 test
  • Atypical hemolytic-uremic syndrome 31 test
  • Atypical hemolytic-uremic syndrome 41 test
  • Atypical hemolytic-uremic syndrome 52 tests
  • Atypical hemolytic-uremic syndrome 61 test
  • Atypical mycobacteriosis, familial, X-linked 21 test
  • Auditory neuropathy, autosomal dominant, 11 test
  • Auriculocondylar syndrome1 test
  • Auriculocondylar syndrome 12 tests
  • Auriculocondylar syndrome 22 tests
  • Autism 161 test
  • Autism 171 test
  • Autism spectrum disorders2 tests
  • Autism, SETD2 related1 test
  • Autism, susceptibility to, 181 test
  • Autism, susceptibility to, 191 test
  • Autism, susceptibility to, X-linked 11 test
  • Autism, susceptibility to, X-linked 22 tests
  • Autism, susceptibility to, X-linked 33 tests
  • Autism, susceptibility to, X-linked 41 test
  • Autism, susceptibility to, X-linked 52 tests
  • Autism, susceptibility to, X-linked 61 test
  • Autistic disorder of childhood onset9 tests
  • Autoimmune lymphoproliferative syndrome4 tests
  • Autoimmune lymphoproliferative syndrome, type III1 test
  • Autoimmune lymphoproliferatiVe syndrome, type V1 test
  • Autoimmune thyroid disease 32 tests
  • Autosomal dominant hypophosphatemic rickets1 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 14 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 32 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 43 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 51 test
  • Autosomal dominant torsion dystonia 44 tests
  • Autosomal recessive centronuclear myopathy1 test
  • Autosomal recessive congenital ichthyosis 15 tests
  • Autosomal recessive congenital ichthyosis 102 tests
  • Autosomal recessive congenital ichthyosis 23 tests
  • Autosomal recessive congenital ichthyosis 32 tests
  • Autosomal recessive congenital ichthyosis 4A2 tests
  • Autosomal recessive congenital ichthyosis 4B2 tests
  • Autosomal recessive congenital ichthyosis 52 tests
  • Autosomal recessive congenital ichthyosis 63 tests
  • Autosomal recessive congenital ichthyosis 82 tests
  • Autosomal recessive congenital ichthyosis 92 tests
  • Autosomal recessive cutis laxa type 1B4 tests
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive cutis laxa type 3B2 tests
  • Autosomal recessive cutis laxa type IA3 tests
  • Autosomal recessive hypohidrotic ectodermal dysplasia syndrome2 tests
  • Autosomal recessive hypophosphatemic bone disease1 test
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets1 test
  • Autosomal recessive polycystic kidney disease4 tests
  • Axenfeld-Rieger syndrome type 14 tests
  • Axenfeld-Rieger syndrome type 35 tests
  • Azorean disease2 tests
  • B-cell expansion with NFKB and T-cell anergy1 test
  • Bainbridge-Ropers syndrome1 test
  • Baller-Gerold syndrome1 test
  • Band-like calcification with simplified gyration and polymicrogyria1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Baraitser-Winter syndrome 11 test
  • Baraitser-Winter Syndrome 21 test
  • Barakat syndrome3 tests
  • Bardet-Biedl syndrome3 tests
  • Bardet-Biedl syndrome 11 test
  • Bardet-Biedl syndrome 101 test
  • Bardet-Biedl syndrome 111 test
  • Bardet-Biedl syndrome 121 test
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 142 tests
  • Bardet-Biedl syndrome 151 test
  • Bardet-Biedl syndrome 181 test
  • Bardet-Biedl syndrome 191 test
  • Bardet-Biedl syndrome 21 test
  • Bardet-Biedl syndrome 31 test
  • Bardet-Biedl syndrome 41 test
  • Bardet-Biedl syndrome 51 test
  • Bardet-Biedl syndrome 63 tests
  • Bardet-Biedl syndrome 71 test
  • Bardet-Biedl syndrome 81 test
  • Bardet-Biedl syndrome 91 test
  • Bartter syndrome type 31 test
  • Bartter syndrome type 43 tests
  • Bartter syndrome, type 1, antenatal5 tests
  • Bartter syndrome, type 2, antenatal1 test
  • Bartter syndrome, type 4b1 test
  • Bartter's syndrome1 test
  • Basal cell carcinoma2 tests
  • Basal cell carcinoma, multiple2 tests
  • Basal cell carcinoma, susceptibility to, 72 tests
  • Basal ganglia calcification, idiopathic, 61 test
  • Basal ganglia disease, biotin-responsive2 tests
  • Bcg infection, generalized familial1 test
  • Becker muscular dystrophy2 tests
  • Beckwith-Wiedemann syndrome6 tests
  • Benign familial neonatal seizures 14 tests
  • Benign familial neonatal seizures 23 tests
  • Benign familial neonatal-infantile seizures4 tests
  • Benign hereditary chorea2 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • Bent bone dysplasia syndrome3 tests
  • Bernard Soulier syndrome5 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant3 tests
  • Bestrophinopathy, autosomal recessive1 test
  • beta Thalassemia2 tests
  • Beta-D-mannosidosis1 test
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency3 tests
  • Beta-thalassemia, dominant inclusion body type2 tests
  • Bethlem myopathy 16 tests
  • Bethlem myopathy 21 test
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifid nose with or without anorectal and renal anomalies1 test
  • Bifunctional peroxisomal enzyme deficiency2 tests
  • Bilateral right-sidedness sequence1 test
  • Bile acid malabsorption, primary1 test
  • Bile acid synthesis defect, congenital, 11 test
  • Bile acid synthesis defect, congenital, 23 tests
  • Bile acid synthesis defect, congenital, 41 test
  • Bilirubin, serum level of, quantitative trait locus 12 tests
  • Biotinidase deficiency3 tests
  • Birk Barel mental retardation dysmorphism syndrome1 test
  • Blau syndrome1 test
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome type 11 test
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome type 21 test
  • BLOOD GROUP--LUTHERAN INHIBITOR2 tests
  • Bloom syndrome2 tests
  • Body mass index quantitative trait locus 42 tests
  • Bone marrow failure syndrome 11 test
  • Bone marrow failure syndrome 21 test
  • Borjeson-Forssman-Lehmann syndrome2 tests
  • Bothnia retinal dystrophy1 test
  • Brachydactyly type A23 tests
  • Brachydactyly type B11 test
  • Brachydactyly-Mental Retardation syndrome1 test
  • Branched-chain aminotransferase 1 deficiency1 test
  • Branched-chain aminotransferase 2 deficiency1 test
  • Branched-chain keto acid dehydrogenase kinase deficiency4 tests
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome3 tests
  • Branchiootic syndrome 32 tests
  • Branchiootorenal syndrome 22 tests
  • Breast and colorectal cancer, susceptibility to1 test
  • Breast cancer 31 test
  • Breast cancer, 11-22 translocation-associated1 test
  • Breast cancer, early-onset1 test
  • Breast cancer, familial male1 test
  • Breast cancer, susceptibility to4 tests
  • Breast milk jaundice1 test
  • Breast-ovarian cancer, familial 15 tests
  • Breast-ovarian cancer, familial 24 tests
  • Breast-ovarian cancer, familial 34 tests
  • Breast-ovarian cancer, familial 43 tests
  • Brody myopathy3 tests
  • Bronchiectasis with or without elevated sweat chloride 13 tests
  • Bronchiectasis with or without elevated sweat chloride 22 tests
  • Brown-Vialetto-Van Laere syndrome 21 test
  • Bruck syndrome 22 tests
  • Brugada syndrome2 tests
  • Brugada syndrome 11 test
  • Brugada syndrome 21 test
  • Brugada syndrome 34 tests
  • Brugada syndrome 43 tests
  • Brugada syndrome 51 test
  • Brugada syndrome 62 tests
  • Brugada syndrome 71 test
  • Brugada syndrome 81 test
  • Budd-Chiari syndrome5 tests
  • Bulbo-spinal atrophy X-linked2 tests
  • Bull's eye macular dystrophy1 test
  • Bullous ichthyosiform erythroderma3 tests
  • Burkitt lymphoma1 test
  • C syndrome1 test
  • C-like syndrome1 test
  • C1q deficiency1 test
  • Camptodactyly arthropathy coxa vara pericarditis syndrome1 test
  • Camptomelic dysplasia1 test
  • Capillary malformation-arteriovenous malformation1 test
  • Carbohydrate-deficient glycoprotein syndrome type I3 tests
  • Carbohydrate-deficient glycoprotein syndrome type II3 tests
  • Carcinoma of cervix3 tests
  • Carcinoma of colon14 tests
  • Carcinoma of male breast1 test
  • Carcinoma of pancreas8 tests
  • Cardiac arrhythmia1 test
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 34 tests
  • Cardiofaciocutaneous syndrome 17 tests
  • Cardiofaciocutaneous syndrome 22 tests
  • Cardiofaciocutaneous syndrome 32 tests
  • Cardiofaciocutaneous syndrome 42 tests
  • Cardiomyopathy5 tests
  • Cardiomyopathy dilated with woolly hair and keratoderma1 test
  • Cardiomyopathy, dilated, 1NN2 tests
  • Cardiomyopathy, dilated, 1u3 tests
  • Cardiomyopathy, dilated, 2b1 test
  • Cardiomyopathy, fatal fetal, due to myocardial calcification1 test
  • Carnevale syndrome1 test
  • Carnitine acylcarnitine translocase deficiency3 tests
  • Carnitine palmitoyltransferase I deficiency2 tests
  • Carnitine palmitoyltransferase I deficiency , muscle2 tests
  • Carnitine palmitoyltransferase II deficiency1 test
  • Carnitine palmitoyltransferase II deficiency, infantile2 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal2 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced2 tests
  • Carotid intimal medial thickness 11 test
  • Cataract2 tests
  • Cataract 12 tests
  • Cataract 13 with adult i phenotype1 test
  • Cataract 15, multiple types1 test
  • Cataract 16, multiple types2 tests
  • Cataract 19, multiple types2 tests
  • Cataract 20, multiple types1 test
  • Cataract 23, multiple types1 test
  • Cataract 3, multiple types1 test
  • Cataract 30, multiple types1 test
  • Cataract 34, multiple types1 test
  • Cataract 39, multiple types1 test
  • Cataract 42 tests
  • Cataract 402 tests
  • Cataract 413 tests
  • Cataract 432 tests
  • Cataract 441 test
  • Cataract 451 test
  • Cataract 6, multiple types1 test
  • Cataract and cardiomyopathy1 test
  • Cataract Hutterite type1 test
  • Cataract, autosomal dominant1 test
  • Cataract, autosomal dominant nuclear1 test
  • Cataract, autosomal dominant, multiple types 11 test
  • Cataract, autosomal recessive congenital 11 test
  • Cataract, autosomal recessive congenital 23 tests
  • Cataract, autosomal recessive congenital 41 test
  • Cataract, autosomal recessive congenital 52 tests
  • Cataract, congenital nuclear, autosomal recessive 21 test
  • Cataract, congenital nuclear, autosomal recessive 32 tests
  • Cataract, congenital zonular, with sutural opacities1 test
  • Cataract, coppock-like1 test
  • Cataract, cortical, juvenile-onset1 test
  • Cataract, floriform1 test
  • Cataract, juvenile, with microcornea and glucosuria1 test
  • Cataract, posterior polar, 31 test
  • Cataract, posterior polar, 42 tests
  • Cataract, pulverulent, juvenile-onset2 tests
  • Cataract, zonular2 tests
  • Catechol-o-methyltransferase deficiency1 test
  • Catecholaminergic polymorphic ventricular tachycardia type 11 test
  • CATSPER-Related Male Infertility2 tests
  • Cd59 deficiency3 tests
  • Central core disease2 tests
  • Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency1 test
  • Cerebellar ataxia infantile with progressive external ophthalmoplegia4 tests
  • Cerebellar ataxia, cayman type1 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 12 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 32 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42 tests
  • Cerebellar ataxia, nonprogressive, with mental retardation2 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cerebral cavernous malformations 11 test
  • Cerebral cavernous malformations 21 test
  • Cerebral cavernous malformations 31 test
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome1 test
  • Cerebral folate deficiency2 tests
  • Cerebral palsy, spastic quadriplegic, 12 tests
  • Cerebral palsy, spastic quadriplegic, 22 tests
  • Cerebrooculofacioskeletal syndrome 21 test
  • Cerebrooculofacioskeletal syndrome 41 test
  • Cerebroretinal microangiopathy with calcifications and cysts 11 test
  • Ceroid lipofuscinosis neuronal 11 test
  • Ceroid lipofuscinosis neuronal 103 tests
  • Ceroid lipofuscinosis neuronal 21 test
  • Ceroid lipofuscinosis neuronal 4B autosomal dominant1 test
  • Ceroid lipofuscinosis neuronal 51 test
  • Ceroid lipofuscinosis neuronal 61 test
  • Ceroid lipofuscinosis neuronal 71 test
  • Ceroid lipofuscinosis neuronal 81 test
  • Charcot-Marie-Tooth disease and deafness3 tests
  • Charcot-Marie-Tooth disease dominant intermediate 31 test
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Charcot-Marie-Tooth disease type 2B22 tests
  • Charcot-Marie-Tooth disease type 2C2 tests
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2F2 tests
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2K2 tests
  • Charcot-Marie-Tooth disease type 2P2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2b2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2O2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2Q1 test
  • Charcot-Marie-Tooth disease, axonal, type 2R1 test
  • Charcot-Marie-Tooth disease, axonal, type 2u1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d4 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4f1 test
  • Charcot-Marie-Tooth disease, dominant intermediate C2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate F2 tests
  • Charcot-Marie-Tooth disease, recessive intermediate B2 tests
  • Charcot-Marie-Tooth disease, recessive intermediate d2 tests
  • Charcot-Marie-Tooth disease, type 1C2 tests
  • Charcot-Marie-Tooth disease, type 2A12 tests
  • Charcot-Marie-Tooth disease, type 2A2A2 tests
  • Charcot-Marie-Tooth disease, type 2L2 tests
  • Charcot-Marie-Tooth disease, type 2N2 tests
  • Charcot-Marie-Tooth disease, type 4A1 test
  • Charcot-Marie-Tooth disease, type 4B12 tests
  • Charcot-Marie-Tooth disease, type 4B22 tests
  • Charcot-Marie-Tooth disease, type 4B31 test
  • Charcot-Marie-Tooth disease, type 4C3 tests
  • Charcot-Marie-Tooth disease, type 4D2 tests
  • Charcot-Marie-Tooth disease, type 4H2 tests
  • Charcot-Marie-Tooth disease, type 4J2 tests
  • Charcot-Marie-Tooth disease, type IA4 tests
  • Charcot-Marie-Tooth disease, X-linked dominant, 61 test
  • Charcot-Marie-Tooth disease, X-linked recessive, type 54 tests
  • CHARGE association4 tests
  • Child syndrome2 tests
  • Childhood hypophosphatasia3 tests
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia2 tests
  • Chloramphenicol toxicity1 test
  • Choanal atresia and lymphedema1 test
  • Cholecystitis1 test
  • Cholestanol storage disease2 tests
  • Cholestasis of pregnancy1 test
  • Cholestasis, benign recurrent intrahepatic 12 tests
  • Cholestasis, infantile, NR1H4 related1 test
  • Cholesterol monooxygenase (side-chain cleaving) deficiency3 tests
  • Chondrodysplasia punctata 1, X-linked recessive1 test
  • Chondrodysplasia with joint dislocations, GPAPP type1 test
  • Chondroectodermal dysplasia4 tests
  • Chondrosarcoma1 test
  • Choreoacanthocytosis2 tests
  • Choreoathetosis1 test
  • Choroid plexus papilloma1 test
  • Choroidal dystrophy, central areolar 21 test
  • Choroideremia2 tests
  • Christianson syndrome4 tests
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chromosome 9q deletion syndrome1 test
  • Chromosome Xq28 deletion syndrome1 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
  • Chronic granulomatous disease, X-linked2 tests
  • Chronic obstructive pulmonary disease2 tests
  • Chudley-McCullough syndrome4 tests
  • Chylomicron retention disease8 tests
  • Chédiak-Higashi syndrome1 test
  • Ciliary dyskinesia, primary, 102 tests
  • Ciliary dyskinesia, primary, 112 tests
  • Ciliary dyskinesia, primary, 122 tests
  • Ciliary dyskinesia, primary, 132 tests
  • Ciliary dyskinesia, primary, 142 tests
  • Ciliary dyskinesia, primary, 152 tests
  • Ciliary dyskinesia, primary, 162 tests
  • 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, 261 test
  • Ciliary dyskinesia, primary, 271 test
  • Ciliary dyskinesia, primary, 281 test
  • Ciliary dyskinesia, primary, 291 test
  • Ciliary dyskinesia, primary, 32 tests
  • Ciliary dyskinesia, primary, 51 test
  • Ciliary dyskinesia, primary, 62 tests
  • Ciliary dyskinesia, primary, 72 tests
  • Ciliary dyskinesia, primary, 92 tests
  • Citrin deficiency1 test
  • Citrullinemia type I3 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome3 tests
  • Cleidocranial dysostosis1 test
  • COACH syndrome4 tests
  • Coarctation of aorta1 test
  • Cockayne syndrome type A1 test
  • CODAS syndrome1 test
  • Coenzyme Q10 deficiency, primary 15 tests
  • Coenzyme Q10 deficiency, primary, 24 tests
  • Coenzyme Q10 deficiency, primary, 34 tests
  • Coenzyme Q10 deficiency, primary, 42 tests
  • Coenzyme Q10 deficiency, primary, 54 tests
  • Coffin-Lowry syndrome4 tests
  • Coffin-Siris syndrome 11 test
  • Cohen syndrome2 tests
  • Colchicine resistance1 test
  • Cole disease1 test
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1 test
  • Colorectal cancer 102 tests
  • Colorectal cancer, hereditary, nonpolyposis, type 11 test
  • Colorectal cancer, susceptibility to, 122 tests
  • Combined cellular and humoral immune defects with granulomas3 tests
  • Combined d-2- and l-2-hydroxyglutaric aciduria3 tests
  • Combined deficiency of sialidase AND beta galactosidase3 tests
  • Combined immunodeficiency, X-linked5 tests
  • Combined malonic and methylmalonic aciduria3 tests
  • Combined oxidative phosphorylation deficiency 12 tests
  • Combined oxidative phosphorylation deficiency 101 test
  • Combined oxidative phosphorylation deficiency 111 test
  • Combined oxidative phosphorylation deficiency 122 tests
  • Combined oxidative phosphorylation deficiency 133 tests
  • Combined oxidative phosphorylation deficiency 141 test
  • Combined oxidative phosphorylation deficiency 151 test
  • Combined oxidative phosphorylation deficiency 161 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 31 test
  • Combined oxidative phosphorylation deficiency 41 test
  • Combined oxidative phosphorylation deficiency 51 test
  • Combined oxidative phosphorylation deficiency 63 tests
  • Combined oxidative phosphorylation deficiency 73 tests
  • Combined oxidative phosphorylation deficiency 84 tests
  • Combined saposin deficiency3 tests
  • Common variable immunodeficiency 13 tests
  • Common variable immunodeficiency 102 tests
  • Common variable immunodeficiency 23 tests
  • Common variable immunodeficiency 33 tests
  • Common variable immunodeficiency 42 tests
  • Common variable immunodeficiency 63 tests
  • Common variable immunodeficiency 73 tests
  • Common variable immunodeficiency 8, with autoimmunity2 tests
  • Complement component 2 deficiency1 test
  • Complement component 3 deficiency, autosomal recessive1 test
  • Complement component 4, partial deficiency of2 tests
  • Complement factor B deficiency1 test
  • Complete trisomy 21 syndrome3 tests
  • Cone dystrophy 31 test
  • Cone dystrophy 41 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 151 test
  • Cone-rod dystrophy 22 tests
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy amelogenesis imperfecta1 test
  • Cone-rod dystrophy X-linked 31 test
  • Congenital adrenal hypoplasia, X-linked3 tests
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital aneurysm of ascending aorta4 tests
  • Congenital bilateral absence of the vas deferens2 tests
  • Congenital Cataracts, Facial Dysmorphism, and Neuropathy4 tests
  • Congenital central hypoventilation18 tests
  • Congenital contractural arachnodactyly2 tests
  • Congenital cystic disease of liver1 test
  • Congenital defect of folate absorption3 tests
  • Congenital disorder of glycosylation type 1B1 test
  • Congenital disorder of glycosylation type 1C2 tests
  • Congenital disorder of glycosylation type 1D1 test
  • Congenital disorder of glycosylation type 1E3 tests
  • Congenital disorder of glycosylation type 1F1 test
  • Congenital disorder of glycosylation type 1G1 test
  • Congenital disorder of glycosylation type 1H1 test
  • Congenital disorder of glycosylation type 1I1 test
  • Congenital disorder of glycosylation type 1J4 tests
  • Congenital disorder of glycosylation type 1K2 tests
  • Congenital disorder of glycosylation type 1M5 tests
  • Congenital disorder of glycosylation type 1N1 test
  • Congenital disorder of glycosylation type 1O1 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 2B1 test
  • Congenital disorder of glycosylation type 2C4 tests
  • Congenital disorder of glycosylation type 2D4 tests
  • Congenital disorder of glycosylation type 2E4 tests
  • Congenital disorder of glycosylation type 2F2 tests
  • Congenital disorder of glycosylation type 2G4 tests
  • Congenital disorder of glycosylation type 2H4 tests
  • Congenital disorder of glycosylation type 2i1 test
  • Congenital disorder of glycosylation type 2J2 tests
  • Congenital disorder of glycosylation type 2k2 tests
  • Congenital disorder of glycosylation type 2L2 tests
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm1 test
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il1 test
  • Congenital dyserythropoietic anemia, type I3 tests
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital dyserythropoietic anemia, type IV2 tests
  • Congenital erythropoietic porphyria3 tests
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital hyperammonemia, type I3 tests
  • Congenital hypomyelinating neuropathy4 tests
  • Congenital ichthyosis of skin1 test
  • Congenital lactase deficiency1 test
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1 test
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A23 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A71 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B12 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B22 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B42 tests
  • Congenital myasthenic syndrome1 test
  • Congenital myasthenic syndrome 1B, fast-channel3 tests
  • Congenital myasthenic syndrome with tubular aggregates 12 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive1 test
  • Congenital myopathy with fiber type disproportion3 tests
  • Congenital myotonia, autosomal dominant form3 tests
  • Congenital order of glycosylation type 1r2 tests
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
  • Congenital short bowel syndrome1 test
  • Congenital stationary night blindness, autosomal dominant 21 test
  • Congenital stationary night blindness, autosomal dominant 31 test
  • Congenital stationary night blindness, type 1A1 test
  • Congenital stationary night blindness, type 1B1 test
  • Congenital stationary night blindness, type 1C1 test
  • Congenital stationary night blindness, type 1E1 test
  • Congenital stationary night blindness, type 2A1 test
  • Congenital stationary night blindness, type 2B1 test
  • Conotruncal heart malformations1 test
  • Corneal dystrophy, Fuchs endothelial, 32 tests
  • Corneal endothelial dystrophy type 21 test
  • Corneal fragility keratoglobus, blue sclerae AND joint hypermobility2 tests
  • Cornelia de Lange syndrome 13 tests
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Coronary heart disease 61 test
  • Corpus callosum agenesis3 tests
  • 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 31 test
  • Cortical dysplasia-focal epilepsy syndrome2 tests
  • Cortical malformations, occipital2 tests
  • Corticosterone methyloxidase type 1 deficiency3 tests
  • Corticosterone methyloxidase type 2 deficiency2 tests
  • Costello syndrome3 tests
  • Cousin syndrome1 test
  • Cowchock syndrome3 tests
  • Cowden syndrome 12 tests
  • Cowden syndrome 61 test
  • Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
  • Craniofacial deafness hand syndrome2 tests
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1 test
  • Craniometaphyseal dysplasia1 test
  • Craniosynostosis 12 tests
  • Craniosynostosis 21 test
  • Craniosynostosis 5, susceptibility to1 test
  • Creatine deficiency, X-linked2 tests
  • Creatine phosphokinase, elevated serum2 tests
  • Crigler-Najjar syndrome2 tests
  • Crigler-Najjar syndrome, type II2 tests
  • Crouzon syndrome2 tests
  • Crouzon syndrome with acanthosis nigricans1 test
  • Cryptophthalmos syndrome5 tests
  • Currarino triad1 test
  • Curry-Hall syndrome2 tests
  • Cushing's syndrome2 tests
  • Cutaneous malignant melanoma 13 tests
  • Cutaneous malignant melanoma 24 tests
  • Cutaneous malignant melanoma 34 tests
  • Cutaneous malignant melanoma 41 test
  • Cutaneous malignant melanoma 61 test
  • Cutaneous malignant melanoma 81 test
  • Cutis Gyrata syndrome of Beare and Stevenson3 tests
  • Cutis laxa with osteodystrophy2 tests
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities3 tests
  • Cutis laxa, autosomal dominant 13 tests
  • Cutis laxa, autosomal dominant 23 tests
  • Cutis laxa, neonatal, with marfanoid phenotype1 test
  • Cutis laxa, X-linked4 tests
  • Cutis laxa-corneal clouding-oligophrenia syndrome3 tests
  • Cyanosis, transient neonatal1 test
  • Cyclical neutropenia2 tests
  • Cylindromatosis, familial1 test
  • Cystathioninuria1 test
  • Cystic fibrosis4 tests
  • Cystinosis, atypical nephropathic1 test
  • Cystinosis, ocular nonnephropathic2 tests
  • Cystinuria5 tests
  • Cytochrome c oxidase i deficiency1 test
  • Cytochrome-c oxidase deficiency5 tests
  • D-2-hydroxyglutaric aciduria 13 tests
  • Dandy-walker malformation with occipital cephalocele, autosomal dominant1 test
  • Danon disease2 tests
  • De Lange syndrome1 test
  • Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
  • Deafness, autosomal dominant 11 test
  • Deafness, autosomal dominant 103 tests
  • 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 221 test
  • Deafness, autosomal dominant 233 tests
  • Deafness, autosomal dominant 251 test
  • Deafness, autosomal dominant 281 test
  • Deafness, autosomal dominant 2b1 test
  • Deafness, autosomal dominant 362 tests
  • Deafness, autosomal dominant 3a2 tests
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal dominant 41 test
  • Deafness, autosomal dominant 411 test
  • Deafness, autosomal dominant 441 test
  • Deafness, autosomal dominant 481 test
  • Deafness, autosomal dominant 52 tests
  • Deafness, autosomal dominant 501 test
  • Deafness, autosomal dominant 641 test
  • Deafness, autosomal dominant 91 test
  • Deafness, autosomal dominant nonsyndromic sensorineural 171 test
  • Deafness, autosomal recessive2 tests
  • Deafness, autosomal recessive 121 test
  • Deafness, autosomal recessive 152 tests
  • Deafness, autosomal recessive 163 tests
  • Deafness, autosomal recessive 182 tests
  • Deafness, autosomal recessive 1A4 tests
  • Deafness, autosomal recessive 1b3 tests
  • Deafness, autosomal recessive 22 tests
  • Deafness, autosomal recessive 222 tests
  • Deafness, autosomal recessive 232 tests
  • Deafness, autosomal recessive 242 tests
  • Deafness, autosomal recessive 252 tests
  • Deafness, autosomal recessive 282 tests
  • Deafness, autosomal recessive 292 tests
  • Deafness, autosomal recessive 32 tests
  • Deafness, autosomal recessive 302 tests
  • Deafness, autosomal recessive 312 tests
  • Deafness, autosomal recessive 352 tests
  • Deafness, autosomal recessive 36, with or without vestibular involvement2 tests
  • Deafness, autosomal recessive 371 test
  • Deafness, autosomal recessive 381 test
  • Deafness, autosomal recessive 392 tests
  • Deafness, autosomal recessive 401 test
  • Deafness, autosomal recessive 422 tests
  • Deafness, autosomal recessive 482 tests
  • Deafness, autosomal recessive 492 tests
  • Deafness, autosomal recessive 532 tests
  • Deafness, autosomal recessive 592 tests
  • Deafness, autosomal recessive 62 tests
  • Deafness, autosomal recessive 612 tests
  • Deafness, autosomal recessive 632 tests
  • Deafness, autosomal recessive 661 test
  • Deafness, autosomal recessive 672 tests
  • Deafness, autosomal recessive 72 tests
  • Deafness, autosomal recessive 703 tests
  • Deafness, autosomal recessive 742 tests
  • Deafness, autosomal recessive 772 tests
  • Deafness, autosomal recessive 792 tests
  • Deafness, autosomal recessive 82 tests
  • Deafness, autosomal recessive 842 tests
  • Deafness, autosomal recessive 891 test
  • Deafness, autosomal recessive 92 tests
  • Deafness, autosomal recessive 911 test
  • Deafness, autosomal recessive 931 test
  • Deafness, digenic, GJB2/GJB31 test
  • Deafness, X-linked 13 tests
  • Deafness, X-linked 22 tests
  • Deafness, X-linked 42 tests
  • Deafness, X-linked 52 tests
  • Deafness, X-linked 61 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase3 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of alpha-mannosidase3 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase3 tests
  • Deficiency of beta-ureidopropionase3 tests
  • Deficiency of butyryl-CoA dehydrogenase3 tests
  • Deficiency of butyrylcholine esterase1 test
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase2 tests
  • Deficiency of galactokinase4 tests
  • Deficiency of glycerate kinase3 tests
  • Deficiency of glycerol kinase3 tests
  • Deficiency of guanidinoacetate methyltransferase3 tests
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase4 tests
  • Deficiency of iodide peroxidase3 tests
  • Deficiency of isobutyryl-CoA dehydrogenase3 tests
  • Deficiency of malonyl-CoA decarboxylase2 tests
  • Deficiency of phosphoserine phosphatase3 tests
  • Deficiency of pyrroline-5-carboxylate reductase1 test
  • Deficiency of steroid 11-beta-monooxygenase3 tests
  • Deficiency of steroid 17-alpha-monooxygenase2 tests
  • Deficiency of transaldolase2 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3 tests
  • Deficiency of xanthine oxidase1 test
  • Dejerine-Sottas disease8 tests
  • Dementia familial British2 tests
  • Dementia, familial Danish2 tests
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1 test
  • Dent disease 22 tests
  • Dentatorubral pallidoluysian atrophy1 test
  • Dermatitis, atopic, 21 test
  • Dermatofibrosarcoma protuberans1 test
  • Dermatofibrosis lenticularis disseminata1 test
  • Desanto-shinawi syndrome1 test
  • Desbuquois dysplasia 11 test
  • Desbuquois dysplasia 21 test
  • Desmoid disease, hereditary2 tests
  • Desmosterolosis1 test
  • Developmental delay and microcephaly1 test
  • DFNA 2 Nonsyndromic Hearing Loss3 tests
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness3 tests
  • Diabetes mellitus type 11 test
  • Diabetes mellitus type 24 tests
  • Diabetes mellitus, insulin-dependent, 102 tests
  • Diabetes mellitus, insulin-dependent, 22 tests
  • Diabetes mellitus, insulin-dependent, 202 tests
  • Diabetes mellitus, neonatal, with congenital hypothyroidism3 tests
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis4 tests
  • Diamond-Blackfan anemia 13 tests
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 111 test
  • Diamond-Blackfan anemia 122 tests
  • Diamond-Blackfan anemia 131 test
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 31 test
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 71 test
  • Diamond-Blackfan anemia 81 test
  • Diamond-Blackfan anemia 91 test
  • Diaphragmatic hernia 32 tests
  • Diaphyseal dysplasia1 test
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma1 test
  • Diarrhea 61 test
  • Diastrophic dysplasia2 tests
  • Diffuse mesangial sclerosis2 tests
  • DiGeorge sequence3 tests
  • DiGeorge syndrome/velocardiofacial syndrome complex 21 test
  • Dihydropteridine reductase deficiency3 tests
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy1 test
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1AA1 test
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1J3 tests
  • Dilated cardiomyopathy 1KK1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1N1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X3 tests
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 3B1 test
  • Dimethylglycine dehydrogenase deficiency1 test
  • Disorder of fatty acid metabolism1 test
  • Disorder of the urea cycle metabolism1 test
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
  • Distal arthrogryposis type 2B3 tests
  • Distal hereditary motor neuronopathy 2D1 test
  • Distal hereditary motor neuronopathy type 2A1 test
  • Distal hereditary motor neuronopathy type 2B1 test
  • Distal hereditary motor neuronopathy type 2C1 test
  • Distal hereditary motor neuronopathy type 51 test
  • Distal hereditary motor neuronopathy type 7B2 tests
  • Distal myopathy Markesbery-Griggs type3 tests
  • Distal myopathy, Tateyama type2 tests
  • Distal spinal muscular atrophy, autosomal recessive 42 tests
  • Distal spinal muscular atrophy, X-linked 34 tests
  • DNM2-related intermediate Charcot-Marie-Tooth neuropathy2 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin3 tests
  • Dominant hereditary optic atrophy1 test
  • Dopamine beta hydroxylase deficiency1 test
  • Dowling-Degos disease 12 tests
  • Doyne honeycomb retinal dystrophy1 test
  • Drash syndrome3 tests
  • Duane syndrome type 11 test
  • Duane-radial ray syndrome3 tests
  • Dubin-Johnson syndrome3 tests
  • Duchenne muscular dystrophy1 test
  • Dyggve-Melchior-Clausen syndrome1 test
  • Dysfibrinogenemia, congenital2 tests
  • Dyskeratosis congenita autosomal dominant2 tests
  • Dyskeratosis congenita autosomal recessive 12 tests
  • Dyskeratosis congenita X-linked3 tests
  • Dyskeratosis congenita, autosomal dominant, 31 test
  • Dyskeratosis congenita, autosomal recessive 21 test
  • Dyskeratosis congenita, autosomal recessive 62 tests
  • Dyskeratosis congenita, autosomal recessive, 51 test
  • Dyskinesia, familial, with facial myokymia1 test
  • Dystonia 12 tests
  • Dystonia 102 tests
  • Dystonia 123 tests
  • Dystonia 163 tests
  • Dystonia 2, torsion, autosomal recessive2 tests
  • Dystonia 233 tests
  • Dystonia 242 tests
  • Dystonia 252 tests
  • Dystonia 26, myoclonic1 test
  • Dystonia 3, torsion, X-linked3 tests
  • Dystonia 5, Dopa-responsive type5 tests
  • Dystonia 6, torsion2 tests
  • Dystonia 93 tests
  • Early infantile epileptic encephalopathy 102 tests
  • Early infantile epileptic encephalopathy 113 tests
  • Early infantile epileptic encephalopathy 122 tests
  • Early infantile epileptic encephalopathy 132 tests
  • Early infantile epileptic encephalopathy 143 tests
  • Early infantile epileptic encephalopathy 152 tests
  • Early infantile epileptic encephalopathy 171 test
  • Early infantile epileptic encephalopathy 181 test
  • Early infantile epileptic encephalopathy 25 tests
  • Early infantile epileptic encephalopathy 211 test
  • Early infantile epileptic encephalopathy 44 tests
  • Early infantile epileptic encephalopathy 54 tests
  • Early infantile epileptic encephalopathy 73 tests
  • Early infantile epileptic encephalopathy 82 tests
  • Early infantile epileptic encephalopathy 93 tests
  • Early myoclonic encephalopathy2 tests
  • Early-Onset Familial Alzheimer Disease1 test
  • Ectodermal dysplasia 7, hair/nail type1 test
  • Ectodermal dysplasia 8, hair/tooth/nail type1 test
  • Ectodermal dysplasia skin fragility syndrome1 test
  • Ectodermal dysplasia, 'pure' hair-nail type1 test
  • Ectopia lentis, isolated, autosomal dominant2 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32 tests
  • EEM syndrome1 test
  • Efavirenz response1 test
  • EGFR-related lung cancer1 test
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
  • Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form2 tests
  • Ehlers-Danlos syndrome, classic type5 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, procollagen proteinase deficient2 tests
  • Ehlers-Danlos syndrome, progeroid type, 21 test
  • Ehlers-Danlos syndrome, type 33 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Ehlers-Danlos syndrome, type 7A1 test
  • Ehlers-Danlos syndrome, type 7B2 tests
  • Eichsfeld type congenital muscular dystrophy2 tests
  • Elliptocytosis 22 tests
  • Emery-Dreifuss muscular dystrophy1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked2 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 61 test
  • Enamel-renal syndrome1 test
  • Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency1 test
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 12 tests
  • Encephalopathy, acute, infection-induced, 3, suceptibility to2 tests
  • Encephalopathy, acute, infection-induced, 4, susceptibility to2 tests
  • Encephalopathy, familial, with neuroserpin inclusion bodies2 tests
  • Endocrine-cerebroosteodysplasia1 test
  • Endometrial carcinoma6 tests
  • Endplate acetylcholinesterase deficiency2 tests
  • Enlarged vestibular aqueduct syndrome3 tests
  • Enterokinase deficiency1 test
  • Epidermal nevus4 tests
  • Epidermolysa bullosa simplex and limb girdle muscular dystrophy5 tests
  • Epidermolysis bullosa2 tests
  • Epidermolysis bullosa herpetiformis, Dowling-Meara3 tests
  • Epidermolysis bullosa junctionalis with pyloric atresia3 tests
  • Epidermolysis bullosa pruriginosa3 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema3 tests
  • Epidermolysis bullosa simplex with mottled pigmentation5 tests
  • Epidermolysis bullosa simplex with nail dystrophy3 tests
  • Epidermolysis bullosa simplex with pyloric atresia3 tests
  • Epidermolysis bullosa simplex, autosomal recessive4 tests
  • Epidermolysis bullosa simplex, autosomal recessive 21 test
  • Epidermolysis bullosa simplex, Cockayne-Touraine type3 tests
  • Epidermolysis bullosa simplex, Koebner type3 tests
  • Epidermolysis bullosa simplex, Ogna type3 tests
  • Epidermolysis bullosa, junctional4 tests
  • Epidermolysis bullosa, lethal acantholytic3 tests
  • Epidermolysis bullosa, nonspecific, autosomal recessive1 test
  • Epidermolytic palmoplantar keratoderma1 test
  • Epilepsy juvenile absence2 tests
  • Epilepsy with grand mal seizures on awakening1 test
  • Epilepsy, childhood absence 22 tests
  • Epilepsy, childhood absence 41 test
  • Epilepsy, childhood absence 52 tests
  • Epilepsy, childhood absence 61 test
  • Epilepsy, childhood absence, JRK related1 test
  • Epilepsy, familial focal, with variable foci 12 tests
  • Epilepsy, familial temporal lobe, 52 tests
  • Epilepsy, focal, SCN3A related1 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation1 test
  • Epilepsy, hearing loss, and mental retardation syndrome1 test
  • Epilepsy, idiopathic generalized 102 tests
  • Epilepsy, idiopathic generalized 82 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 123 tests
  • Epilepsy, juvenile myoclonic 51 test
  • Epilepsy, lateral temporal lobe, autosomal dominant2 tests
  • Epilepsy, nocturnal frontal lobe, 52 tests
  • Epilepsy, nocturnal frontal lobe, type 13 tests
  • Epilepsy, nocturnal frontal lobe, type 32 tests
  • Epilepsy, nocturnal frontal lobe, type 43 tests
  • Epilepsy, progressive myoclonic 2b1 test
  • Epilepsy, progressive myoclonic 32 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epilepsy, progressive myoclonic 52 tests
  • Epilepsy, progressive myoclonic 62 tests
  • Epilepsy, progressive myoclonic 82 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders2 tests
  • Epileptic encephalopathy Lennox-Gastaut type2 tests
  • Epileptic encephalopathy, childhood-onset1 test
  • Epileptic encephalopathy, early infantile, 12 tests
  • Epileptic encephalopathy, early infantile, 231 test
  • Epileptic encephalopathy, early infantile, 241 test
  • Epileptic encephalopathy, early infantile, 252 tests
  • Epileptic encephalopathy, early infantile, 261 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, 361 test
  • Epileptic encephalopathy, early infantile, 401 test
  • Epileptic encephalopathy, early infantile, 451 test
  • Episodic ataxia type 13 tests
  • Episodic ataxia type 22 tests
  • Episodic ataxia, type 52 tests
  • Episodic ataxia, type 62 tests
  • Episodic pain syndrome, familial, 22 tests
  • Episodic pain syndrome, familial, 31 test
  • Epithelial recurrent erosion dystrophy2 tests
  • Epstein syndrome1 test
  • Erythrocyte AMP deaminase deficiency1 test
  • Erythrocyte lactate transporter defect3 tests
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythrokeratodermia variabilis2 tests
  • Erythrokeratodermia with ataxia1 test
  • Essential hypertension1 test
  • Essential pentosuria1 test
  • Essential thrombocythemia2 tests
  • Estrogen resistance1 test
  • Ethylmalonic encephalopathy5 tests
  • Exercise-induced hyperinsulinemic hypoglycemia3 tests
  • Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like2 tests
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis2 tests
  • Exudative vitreoretinopathy 11 test
  • Exudative vitreoretinopathy 51 test
  • Fabry disease3 tests
  • Facial dysmorphism, immunodeficiency, livedo, and short stature1 test
  • Facioscapulohumeral muscular dystrophy1 test
  • Factor V deficiency3 tests
  • Factor VII deficiency3 tests
  • Factor X deficiency2 tests
  • Factor XII deficiency disease1 test
  • Factor xiii, a subunit, deficiency of3 tests
  • Factor xiii, b subunit, deficiency of1 test
  • Familial adenomatous polyposis 12 tests
  • Familial adenomatous polyposis 33 tests
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial cancer of breast13 tests
  • Familial cold autoinflammatory syndrome 21 test
  • Familial colorectal cancer4 tests
  • Familial dysautonomia2 tests
  • Familial erythrocytosis, 12 tests
  • Familial exudative vitreoretinopathy, X-linked1 test
  • Familial hemiplegic migraine type 11 test
  • Familial hemiplegic migraine type 22 tests
  • Familial hemiplegic migraine type 34 tests
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Familial hemophagocytic lymphohistiocytosis 11 test
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia1 test
  • Familial hypertrophic cardiomyopathy 13 tests
  • Familial hypertrophic cardiomyopathy 101 test
  • Familial hypertrophic cardiomyopathy 111 test
  • Familial hypertrophic cardiomyopathy 121 test
  • Familial hypertrophic cardiomyopathy 161 test
  • Familial hypertrophic cardiomyopathy 171 test
  • Familial hypertrophic cardiomyopathy 191 test
  • Familial hypertrophic cardiomyopathy 21 test
  • Familial hypertrophic cardiomyopathy 31 test
  • Familial hypertrophic cardiomyopathy 41 test
  • Familial hypertrophic cardiomyopathy 63 tests
  • Familial hypertrophic cardiomyopathy 71 test
  • Familial hypertrophic cardiomyopathy 81 test
  • Familial hypertrophic cardiomyopathy 91 test
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial hypoplastic, glomerulocystic kidney2 tests
  • Familial infantile myasthenia2 tests
  • Familial Mediterranean fever1 test
  • Familial medullary thyroid carcinoma2 tests
  • Familial multiple trichoepitheliomata1 test
  • Familial partial lipodystrophy 31 test
  • Familial platelet disorder with associated myeloid malignancy1 test
  • Familial prostate cancer2 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial renal glucosuria1 test
  • Familial renal hypouricemia2 tests
  • Familial restrictive cardiomyopathy 11 test
  • Familial visceral amyloidosis, Ostertag type2 tests
  • Fanconi anemia, complementation group A4 tests
  • Fanconi anemia, complementation group B3 tests
  • Fanconi anemia, complementation group C3 tests
  • Fanconi anemia, complementation group D14 tests
  • Fanconi anemia, complementation group D23 tests
  • 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 J2 tests
  • Fanconi anemia, complementation group L1 test
  • Fanconi anemia, complementation group M1 test
  • Fanconi anemia, complementation group N2 tests
  • Fanconi anemia, complementation group P1 test
  • Fanconi anemia, complementation group Q2 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
  • Fanconi-Bickel syndrome2 tests
  • Farber's lipogranulomatosis1 test
  • Fatal familial insomnia1 test
  • Favism, susceptibility to2 tests
  • Febrile seizures, familial, 44 tests
  • Feingold syndrome 13 tests
  • Feingold syndrome 21 test
  • Fetal hemoglobin quantitative trait locus 14 tests
  • Fetal hemoglobin quantitative trait locus 62 tests
  • FG syndrome3 tests
  • FG syndrome 21 test
  • FG syndrome 44 tests
  • Fibrochondrogenesis2 tests
  • Fibrochondrogenesis 21 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
  • Finnish congenital nephrotic syndrome2 tests
  • Fitzsimmons-Guilbert syndrome1 test
  • Fleck retina, familial benign1 test
  • Floating-Harbor syndrome1 test
  • Focal cortical dysplasia type II2 tests
  • Focal dermal hypoplasia1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 12 tests
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 3, susceptibility to1 test
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 72 tests
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 91 test
  • Follicle-stimulating hormone deficiency, isolated1 test
  • Follicular lymphoma 11 test
  • Fragile X syndrome2 tests
  • Fragile X tremor/ataxia syndrome2 tests
  • Frank Ter Haar syndrome1 test
  • Frasier syndrome2 tests
  • FRAXE2 tests
  • Freeman-Sheldon syndrome1 test
  • Friedreich ataxia 12 tests
  • Frontometaphyseal dysplasia1 test
  • Frontonasal dysplasia 11 test
  • Frontonasal dysplasia 21 test
  • Frontonasal dysplasia 31 test
  • Frontotemporal dementia8 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • Fructose uptake deficiency, SLC2A5 related1 test
  • Fructose-biphosphatase deficiency4 tests
  • Fructosuria, essential1 test
  • FSH releasing protein deficiency1 test
  • Fucosidosis4 tests
  • Fuhrmann syndrome1 test
  • Fukuyama congenital muscular dystrophy4 tests
  • Fumarase deficiency4 tests
  • Galactosylceramide beta-galactosidase deficiency5 tests
  • Galloway-Mowat syndrome1 test
  • Gamma-aminobutyric acid transaminase deficiency4 tests
  • Ganglioside sialidase deficiency1 test
  • Gangliosidosis GM1 type 32 tests
  • Gangliosidosis, generalized gm1, late-infantile type1 test
  • Gastric lymphoma1 test
  • Gastrointestinal stromal tumor7 tests
  • GATA-1-related thrombocytopenia with dyserythropoiesis2 tests
  • Gaucher disease, atypical, due to saposin C deficiency2 tests
  • Gaucher's disease, type 11 test
  • Gaze palsy, familial horizontal, with progressive scoliosis1 test
  • Geleophysic dysplasia 11 test
  • Geleophysic dysplasia 22 tests
  • Generalized arterial calcification of infancy 21 test
  • Generalized dominant dystrophic epidermolysis bullosa4 tests
  • Generalized epilepsy and paroxysmal dyskinesia2 tests
  • Generalized epilepsy with febrile seizures plus 31 test
  • Generalized epilepsy with febrile seizures plus type 51 test
  • Generalized epilepsy with febrile seizures plus, type 12 tests
  • Generalized epilepsy with febrile seizures plus, type 23 tests
  • Generalized epilepsy with febrile seizures plus, type 71 test
  • Genetic predisposition3 tests
  • Genitopatellar syndrome1 test
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Giant axonal neuropathy3 tests
  • Giant pigmented hairy nevus1 test
  • Gilbert syndrome, susceptibility to1 test
  • Gilbert's syndrome2 tests
  • Gingival fibromatosis 12 tests
  • Glanzmann thrombasthenia3 tests
  • Glaucoma 1, open angle, e1 test
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 1, open angle, O2 tests
  • Glaucoma 3, primary congenital, d1 test
  • Glaucoma, congenital1 test
  • Glioma susceptibility 17 tests
  • Glioma susceptibility 31 test
  • Globozoospermia1 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency with achalasia3 tests
  • Glucocorticoid resistance, generalized1 test
  • Glucose-6-phosphate transport defect3 tests
  • GLUT1 deficiency syndrome 13 tests
  • GLUT1 deficiency syndrome 24 tests
  • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY1 test
  • Glutamine deficiency, congenital1 test
  • Glutaric aciduria, type 12 tests
  • Glutaric aciduria, type 26 tests
  • Glutaryl-CoA oxidase deficiency3 tests
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to2 tests
  • Gluthathione synthetase deficiency3 tests
  • Glycine N-methyltransferase deficiency3 tests
  • Glycogen storage disease 0, muscle1 test
  • Glycogen storage disease II, adult form1 test
  • Glycogen storage disease IIIb1 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease of heart, lethal congenital4 tests
  • Glycogen storage disease type 131 test
  • Glycogen storage disease type 1A2 tests
  • Glycogen storage disease type III3 tests
  • Glycogen storage disease type IXa11 test
  • Glycogen storage disease type X1 test
  • Glycogen storage disease XI1 test
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type I1 test
  • Glycogen storage disease, type II5 tests
  • Glycogen storage disease, type IV4 tests
  • Glycogen storage disease, type V2 tests
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII1 test
  • GM1 gangliosidosis2 tests
  • GM1 gangliosidosis type 22 tests
  • Goldberg-Shprintzen megacolon syndrome1 test
  • Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance4 tests
  • Gorlin syndrome3 tests
  • GRACILE syndrome3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
  • Greig cephalopolysyndactyly syndrome1 test
  • Griscelli syndrome type 11 test
  • Griscelli syndrome type 21 test
  • Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate3 tests
  • Growth hormone insensitivity with immunodeficiency3 tests
  • Growth retardation, developmental delay, coarse facies, and early death1 test
  • GTP cyclohydrolase I deficiency2 tests
  • Guillain-Barre syndrome, familial2 tests
  • Haddad syndrome3 tests
  • Haim-Munk syndrome1 test
  • Hairy elbows1 test
  • Hajdu-Cheney syndrome2 tests
  • Hamamy syndrome1 test
  • Hand foot uterus syndrome1 test
  • Harlequin syndrome1 test
  • Hartsfield syndrome2 tests
  • Hay-Wells syndrome of ectodermal dysplasia2 tests
  • Hb SS disease3 tests
  • Hecht syndrome1 test
  • Heinz body anemia2 tests
  • Helsmoortel-van der aa syndrome1 test
  • Hemangioma, capillary infantile4 tests
  • Hemochromatosis type 11 test
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 71 test
  • Hemophagocytic lymphohistiocytosis, familial, 31 test
  • Hemophagocytic lymphohistiocytosis, familial, 41 test
  • Hemophagocytic lymphohistiocytosis, familial, 51 test
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts1 test
  • Hennekam lymphangiectasia-lymphedema syndrome1 test
  • Hennekam lymphangiectasia-lymphedema syndrome 21 test
  • Hepatic adenomas, familial3 tests
  • Hepatic failure1 test
  • Hepatic methionine adenosyltransferase deficiency3 tests
  • Hepatitis c virus, susceptibility to2 tests
  • Hepatocellular carcinoma7 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 12 tests
  • Hereditary breast and ovarian cancer syndrome3 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type2 tests
  • Hereditary congenital facial paresis 31 test
  • Hereditary coproporphyria1 test
  • Hereditary diffuse gastric cancer6 tests
  • Hereditary diffuse leukoencephalopathy with spheroids1 test
  • Hereditary disease3 tests
  • Hereditary essential tremor 11 test
  • Hereditary factor II deficiency disease1 test
  • Hereditary factor IX deficiency disease3 tests
  • Hereditary factor VIII deficiency disease3 tests
  • Hereditary factor XI deficiency disease3 tests
  • Hereditary fructosuria2 tests
  • Hereditary hearing loss and deafness1 test
  • Hereditary hemorrhagic telangiectasia type 23 tests
  • Hereditary insensitivity to pain with anhidrosis2 tests
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary liability to pressure palsies3 tests
  • Hereditary lymphedema type I1 test
  • Hereditary mixed polyposis syndrome 11 test
  • Hereditary mixed polyposis syndrome 23 tests
  • Hereditary myopathy with early respiratory failure2 tests
  • Hereditary neutrophilia1 test
  • Hereditary nonpolyposis colorectal cancer type 43 tests
  • Hereditary nonpolyposis colorectal cancer type 53 tests
  • Hereditary nonpolyposis colorectal cancer type 61 test
  • Hereditary nonpolyposis colorectal cancer type 71 test
  • Hereditary nonpolyposis colorectal cancer type 83 tests
  • Hereditary pancreatitis7 tests
  • Hereditary pyropoikilocytosis2 tests
  • Hereditary sensory and autonomic neuropathy type IC1 test
  • Hereditary sensory and autonomic neuropathy type II1 test
  • Hereditary sensory and autonomic neuropathy type IIA4 tests
  • Hereditary sensory and autonomic neuropathy type IIB2 tests
  • Hereditary sensory and autonomic neuropathy type IIC1 test
  • Hereditary sensory neuropathy type IE3 tests
  • Hereditary sideroblastic anemia4 tests
  • Hermansky Pudlak syndrome 23 tests
  • Hermansky-Pudlak syndrome 12 tests
  • Hermansky-Pudlak syndrome 32 tests
  • Hermansky-Pudlak syndrome 42 tests
  • Hermansky-Pudlak syndrome 52 tests
  • Hermansky-Pudlak syndrome 62 tests
  • Hermansky-Pudlak syndrome 72 tests
  • Hermansky-Pudlak syndrome 82 tests
  • Hermansky-Pudlak syndrome 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
  • Heterotaxy syndrome2 tests
  • Heterotaxy, visceral, 2, autosomal2 tests
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 6, autosomal1 test
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotaxy, visceral, X-linked1 test
  • Heterotopia, periventricular, autosomal recessive2 tests
  • Hirschsprung disease 112 tests
  • Hirschsprung disease 42 tests
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction1 test
  • Histiocytic medullary reticulosis5 tests
  • Histiocytosis-lymphadenopathy plus syndrome1 test
  • HNSHA due to aldolase A deficiency4 tests
  • Holocarboxylase synthetase deficiency3 tests
  • Holoprosencephaly 111 test
  • Holoprosencephaly 21 test
  • Holoprosencephaly 31 test
  • Holoprosencephaly 41 test
  • Holoprosencephaly 51 test
  • Holoprosencephaly 91 test
  • Holoprosencephaly sequence2 tests
  • Holt-Oram syndrome4 tests
  • Homocysteinemia due to MTHFR deficiency2 tests
  • Homocystinuria due to CBS deficiency3 tests
  • Homocystinuria due to MTHFR deficiency1 test
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type5 tests
  • Howel-Evans syndrome2 tests
  • Hoyeraal Hreidarsson syndrome1 test
  • Huntington disease-like 12 tests
  • Huntington disease-like 21 test
  • Huntington's chorea2 tests
  • Hurler syndrome1 test
  • Hurthle cell carcinoma of thyroid1 test
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole1 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydranencephaly with renal aplasia-dysplasia1 test
  • Hydrocephalus2 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 22 tests
  • Hydrolethalus syndrome 11 test
  • Hyperaldosteronism, familial, type I2 tests
  • Hyperammonemia, type III3 tests
  • Hypercholanemia, familial4 tests
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, autosomal recessive2 tests
  • Hyperekplexia1 test
  • Hyperekplexia 31 test
  • Hyperekplexia hereditary4 tests
  • Hyperferritinemia cataract syndrome2 tests
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2 tests
  • Hyperimmunoglobulin E syndrome1 test
  • Hyperinsulinemic hypoglycemia familial 33 tests
  • Hyperinsulinemic hypoglycemia familial 52 tests
  • Hyperinsulinemic hypoglycemia, familial, 42 tests
  • Hyperinsulinism, UCP2 related1 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperkalemic Periodic Paralysis Type 13 tests
  • Hyperlipoproteinemia, type I1 test
  • Hyperlysinemia3 tests
  • Hypermethioninemia due to adenosine kinase deficiency4 tests
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency3 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperphenylalaninemia, BH4-deficient, D3 tests
  • 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
  • Hyperproinsulinemia2 tests
  • Hyperthyroidism, familial gestational2 tests
  • Hyperthyroidism, nonautoimmune2 tests
  • Hypertrichotic osteochondrodysplasia1 test
  • Hypertriglyceridemia, transient infantile1 test
  • Hypertrophy of the breast, juvenile1 test
  • Hyperuricemic nephropathy, familial juvenile, 21 test
  • Hypobetalipoproteinemia, familial, 12 tests
  • Hypocalcemia, autosomal dominant 12 tests
  • Hypocalcemia, autosomal dominant 23 tests
  • Hypocalciuric hypercalcemia, familial, type 13 tests
  • Hypocalciuric hypercalcemia, familial, type II2 tests
  • Hypocalciuric hypercalcemia, familial, type III1 test
  • Hypoglycemia with deficiency of glycogen synthetase in the liver3 tests
  • Hypoglycemia, neonatal, simulating foetopathia diabetica3 tests
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 12 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypohidrotic ectodermal dysplasia with immune deficiency1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis 13 tests
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 2, renal1 test
  • Hypomagnesemia 5, renal, with ocular involvement1 test
  • Hypomagnesemia 6, renal1 test
  • Hypomyelinating leukodystrophy 72 tests
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism2 tests
  • Hypomyelination and Congenital Cataract2 tests
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity1 test
  • Hypomyelination, global cerebral1 test
  • Hypoparathyroidism familial isolated2 tests
  • Hypoparathyroidism retardation dysmorphism syndrome1 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypophosphatemic rickets, X-linked recessive1 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome2 tests
  • Hypoplastic left heart syndrome 21 test
  • Hypospadias 1, X-linked1 test
  • Hypospadias 2, X-linked1 test
  • Hypothyroidism, congenital, nongoitrous, 13 tests
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Hypothyroidism, congenital, nongoitrous, 63 tests
  • Hypothyroidism, isolated, TRHR related1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Hypotonia-cystinuria syndrome2 tests
  • Hypotrichosis 112 tests
  • Hypotrichosis 122 tests
  • Hypotrichosis 131 test
  • Hypotrichosis 21 test
  • Hypotrichosis 31 test
  • Hypotrichosis 42 tests
  • Hypotrichosis 62 tests
  • Hypotrichosis 72 tests
  • Hypotrichosis 82 tests
  • Hypotrichosis simplex2 tests
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hystrix-like ichthyosis with deafness2 tests
  • I cell disease2 tests
  • Ichthyosis1 test
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis lamellar, recessive1 test
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis vulgaris1 test
  • Ichthyosis, congenital, autosomal recessive 111 test
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis1 test
  • Ichthyosis, spastic quadriplegia, and mental retardation1 test
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic fibrosing alveolitis, chronic form2 tests
  • Idiopathic hypereosinophilic syndrome3 tests
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Ige responsiveness, atopic2 tests
  • IL21R immunodeficiency3 tests
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 13 tests
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 24 tests
  • Immunodeficiency 111 test
  • Immunodeficiency 123 tests
  • Immunodeficiency 143 tests
  • Immunodeficiency 153 tests
  • Immunodeficiency 173 tests
  • Immunodeficiency 184 tests
  • Immunodeficiency 195 tests
  • Immunodeficiency 223 tests
  • Immunodeficiency 243 tests
  • Immunodeficiency 26 with or without neurologic abnormalities3 tests
  • Immunodeficiency 302 tests
  • Immunodeficiency 32a3 tests
  • Immunodeficiency 32b3 tests
  • Immunodeficiency 361 test
  • Immunodeficiency 38 with basal ganglia calcification1 test
  • Immunodeficiency 83 tests
  • Immunodeficiency due to defect in cd3-zeta5 tests
  • Immunodeficiency due to defect in mapbp-interacting protein3 tests
  • Immunodeficiency with hyper IgM type 13 tests
  • Immunodeficiency with hyper IgM type 23 tests
  • Immunodeficiency with hyper IgM type 33 tests
  • Immunodeficiency with hyper IgM type 53 tests
  • Immunodeficiency without anhidrotic ectodermal dysplasia1 test
  • Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia3 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunoglobulin A deficiency 22 tests
  • Inclusion body myopathy 21 test
  • Inclusion body myositis1 test
  • Incontinentia pigmenti syndrome1 test
  • Infantile cerebellar-retinal degeneration2 tests
  • Infantile cortical hyperostosis2 tests
  • Infantile GM1 gangliosidosis3 tests
  • Infantile hypophosphatasia1 test
  • Infantile liver failure syndrome 21 test
  • Infantile nephronophthisis1 test
  • Infantile neuroaxonal dystrophy1 test
  • Infantile nystagmus, X-linked1 test
  • Infantile Parkinsonism-dystonia3 tests
  • Infantile Refsum's disease1 test
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations1 test
  • Infertility1 test
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Infertility due to oligospermia1 test
  • Inflammatory bowel disease 131 test
  • Inflammatory skin and bowel disease, neonatal 11 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Insensitivity to pain with hyperplastic myelinopathy1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Insulin-like growth factor 1 resistance to3 tests
  • Insulin-like growth factor I deficiency3 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans3 tests
  • Intellectual disability, TBR1 related1 test
  • Interleukin 2 receptor, alpha, deficiency of3 tests
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1 test
  • Interstitial nephritis, karyomegalic1 test
  • Intervertebral disc disorder2 tests
  • Intrahepatic cholestasis of pregnancy, NR1H4 related1 test
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies1 test
  • Intrinsic factor deficiency1 test
  • Invasive pneumococcal disease, recurrent isolated, 12 tests
  • Invasive pneumococcal disease, recurrent isolated, 21 test
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect3 tests
  • IRAK4 deficiency1 test
  • Irido-corneo-trabecular dysgenesis1 test
  • Iridogoniodysgenesis type12 tests
  • Ischemic stroke1 test
  • Islet cell hyperplasia3 tests
  • Isolated growth hormone deficiency type 1B1 test
  • Isovaleryl-CoA dehydrogenase deficiency3 tests
  • IVIC syndrome2 tests
  • Jackson-Weiss syndrome5 tests
  • Jakob-Creutzfeldt disease1 test
  • Jankovic Rivera syndrome1 test
  • Jensen syndrome2 tests
  • Jervell and Lange-Nielsen syndrome 13 tests
  • Jervell and Lange-Nielsen syndrome 23 tests
  • Johanson-Blizzard syndrome1 test
  • Joubert syndrome 13 tests
  • Joubert syndrome 102 tests
  • Joubert syndrome 132 tests
  • Joubert syndrome 141 test
  • Joubert syndrome 152 tests
  • Joubert syndrome 162 tests
  • Joubert syndrome 172 tests
  • Joubert syndrome 181 test
  • Joubert syndrome 22 tests
  • Joubert syndrome 202 tests
  • Joubert syndrome 211 test
  • Joubert syndrome 222 tests
  • Joubert syndrome 231 test
  • Joubert syndrome 32 tests
  • Joubert syndrome 42 tests
  • Joubert syndrome 54 tests
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 82 tests
  • Joubert syndrome 91 test
  • Joubert syndrome, EXOC8 related1 test
  • Joubert syndrome, EXOSC8 related1 test
  • Junctional epidermolysis bullosa gravis of Herlitz3 tests
  • Juvenile myelomonocytic leukemia6 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke5 tests
  • Juvenile nephropathic cystinosis2 tests
  • Juvenile neuronal ceroid lipofuscinosis1 test
  • Juvenile polyposis syndrome4 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
  • Juvenile retinoschisis1 test
  • Juvenile-onset dystonia2 tests
  • Kabuki syndrome 13 tests
  • Kabuki syndrome 24 tests
  • Kallmann syndrome 11 test
  • Kallmann syndrome 26 tests
  • Kallmann syndrome 31 test
  • Kallmann syndrome 41 test
  • Kallmann syndrome 52 tests
  • Kartagener syndrome3 tests
  • KBG syndrome2 tests
  • Kell blood group system1 test
  • Kenny-Caffey syndrome type 21 test
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant3 tests
  • Keratoconus 11 test
  • Keratoderma palmoplantar deafness4 tests
  • Keratosis palmoplantaris papulosa1 test
  • Keratosis palmoplantaris striata II3 tests
  • Keratosis pilaris decalvans1 test
  • Keutel syndrome1 test
  • Kindler's syndrome3 tests
  • Klein-Waardenberg's syndrome2 tests
  • Klippel-Feil syndrome 1, autosomal dominant2 tests
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-Feil syndrome 3, autosomal dominant2 tests
  • Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism2 tests
  • Knobloch syndrome 11 test
  • Knuckle pads, deafness AND leukonychia syndrome3 tests
  • Kohlschutter's syndrome2 tests
  • Koolen-de Vries syndrome2 tests
  • Krabbe disease atypical due to Saposin A deficiency2 tests
  • Kugelberg-Welander disease2 tests
  • L-2-hydroxyglutaric aciduria1 test
  • Lactate dehydrogenase B deficiency1 test
  • Lafora disease3 tests
  • Langer-Giedion syndrome2 tests
  • Larsen syndrome1 test
  • Laryngoonychocutaneous syndrome3 tests
  • Late-onset retinal degeneration1 test
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 102 tests
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 122 tests
  • Leber congenital amaurosis 131 test
  • Leber congenital amaurosis 141 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 172 tests
  • 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 91 test
  • Leber optic atrophy, susceptibility to16 tests
  • Left ventricular noncompaction 61 test
  • Left ventricular noncompaction 81 test
  • Left-right axis malformations1 test
  • Legius syndrome3 tests
  • Leigh syndrome24 tests
  • Leigh syndrome, French Canadian type4 tests
  • Leiner disease1 test
  • Lenz microphthalmia syndrome3 tests
  • LEOPARD syndrome 12 tests
  • LEOPARD syndrome 22 tests
  • LEOPARD syndrome 35 tests
  • Leprechaunism syndrome2 tests
  • Lesch-Nyhan syndrome4 tests
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital contracture syndrome 41 test
  • Lethal Kniest-like syndrome2 tests
  • Lethal multiple pterygium syndrome2 tests
  • Lethal tight skin contracture syndrome1 test
  • Leucine-induced hypoglycemia2 tests
  • Leukemia3 tests
  • Leukemia, acute lymphoblastic, susceptibility to1 test
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukemia, acute, ?X-linked1 test
  • Leukemia, chronic myeloid, atypical1 test
  • Leukocyte adhesion deficiency type 12 tests
  • Leukocyte adhesion deficiency, type III1 test
  • Leukodystrophy1 test
  • Leukodystrophy, adult-onset, autosomal dominant2 tests
  • Leukodystrophy, hypomyelinating 32 tests
  • Leukodystrophy, hypomyelinating, 22 tests
  • Leukodystrophy, hypomyelinating, 41 test
  • Leukodystrophy, hypomyelinating, 61 test
  • Leukodystrophy, hypomyelinating, 91 test
  • Leukoencephalopathy1 test
  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation2 tests
  • Leukoencephalopathy with dystonia and motor neuropathy2 tests
  • Leukoencephalopathy with vanishing white matter6 tests
  • Leukoencephalopathy, cystic, without megalencephaly2 tests
  • Leukoencephalopathy, progressive, with ovarian failure4 tests
  • Levy-Hollister syndrome4 tests
  • Lewy body dementia2 tests
  • Leydig cell adenoma, somatic, with male-limited precocious puberty1 test
  • Leydig cell hypoplasia, partial1 test
  • Li-Fraumeni syndrome 12 tests
  • Li-Fraumeni syndrome 24 tests
  • Lig4 syndrome4 tests
  • Limb-girdle muscular dystrophy8 tests
  • Limb-girdle muscular dystrophy, type 1A2 tests
  • Limb-girdle muscular dystrophy, type 1B2 tests
  • Limb-girdle muscular dystrophy, type 1C2 tests
  • Limb-girdle muscular dystrophy, type 1E2 tests
  • Limb-girdle muscular dystrophy, type 1F1 test
  • Limb-girdle muscular dystrophy, type 1G1 test
  • Limb-girdle muscular dystrophy, type 2A3 tests
  • Limb-girdle muscular dystrophy, type 2B1 test
  • Limb-girdle muscular dystrophy, type 2D2 tests
  • Limb-girdle muscular dystrophy, type 2E1 test
  • Limb-girdle muscular dystrophy, type 2F1 test
  • Limb-girdle muscular dystrophy, type 2G2 tests
  • Limb-girdle muscular dystrophy, type 2J2 tests
  • Limb-girdle muscular dystrophy, type 2L2 tests
  • Limb-girdle muscular dystrophy, type 2Q2 tests
  • Limb-girdle muscular dystrophy, type 2S2 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C13 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C22 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C43 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C92 tests
  • Limb-mammary syndrome2 tests
  • Linear skin defects with multiple congenital anomalies 11 test
  • Lipodystrophy, congenital generalized, type 41 test
  • Lipoprotein glomerulopathy1 test
  • Lissencephaly1 test
  • Lissencephaly 11 test
  • Lissencephaly 21 test
  • Lissencephaly 2, X-linked3 tests
  • Lissencephaly 31 test
  • Lissencephaly 41 test
  • Lissencephaly, X-linked3 tests
  • Liver failure acute infantile3 tests
  • Loeys-Dietz syndrome1 test
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 23 tests
  • Loeys-Dietz syndrome 31 test
  • Loeys-Dietz syndrome 42 tests
  • Loeys-Dietz syndrome 51 test
  • Long QT syndrome1 test
  • Long QT syndrome 13 tests
  • Long QT syndrome 101 test
  • Long QT syndrome 113 tests
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 142 tests
  • Long QT syndrome 23 tests
  • Long QT syndrome 31 test
  • Long QT syndrome 41 test
  • Long QT syndrome 53 tests
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Lowe syndrome1 test
  • Lucey-Driscoll syndrome2 tests
  • Lung cancer9 tests
  • Lung cancer, protection against1 test
  • Luscan-lumish syndrome1 test
  • Lymphangiomyomatosis6 tests
  • Lymphedema, primary, with myelodysplasia1 test
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
  • Lymphoproliferative syndrome 11 test
  • Lymphoproliferative syndrome 1, X-linked1 test
  • Lymphoproliferative syndrome 21 test
  • Lymphoproliferative syndrome 2, X-linked1 test
  • Lynch syndrome I4 tests
  • Lynch syndrome II3 tests
  • Lysinuric protein intolerance3 tests
  • Lysosomal acid lipase deficiency3 tests
  • Macrocephaly, alopecia, cutis laxa, and scoliosis2 tests
  • Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
  • Macular dystrophy, atypical vitelliform2 tests
  • Macular dystrophy, vitelliform, adult-onset1 test
  • Majeed syndrome1 test
  • Major affective disorder 12 tests
  • Major affective disorder 71 test
  • Malignant hyperthermia susceptibility1 test
  • Malignant hyperthermia susceptibility type 51 test
  • Malignant hyperthermia, susceptibility to, 12 tests
  • Malignant melanoma1 test
  • Malignant melanoma of skin3 tests
  • Malignant neoplasm of other specified sites of female breast1 test
  • Malignant tumor of esophagus2 tests
  • Malignant tumor of prostate9 tests
  • Malignant tumor of testis8 tests
  • Malignant tumor of urinary bladder6 tests
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome1 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Mannose-binding protein deficiency1 test
  • Maple syrup urine disease3 tests
  • 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 variant2 tests
  • Maple syrup urine disease, type 33 tests
  • Marden-Walker syndrome1 test
  • Marfan lipodystrophy syndrome1 test
  • Marfan syndrome4 tests
  • Marfan Syndrome type 21 test
  • Marinesco-Sjögren syndrome2 tests
  • Marshall syndrome2 tests
  • Marshall-Smith syndrome1 test
  • Martsolf syndrome4 tests
  • MASS syndrome4 tests
  • Mast syndrome2 tests
  • Mastocytosis1 test
  • Maturity onset diabetes mellitus in young2 tests
  • Maturity-onset diabetes of the young, type 16 tests
  • Maturity-onset diabetes of the young, type 23 tests
  • Maturity-onset diabetes of the young, type 103 tests
  • Maturity-onset diabetes of the young, type 111 test
  • Maturity-onset diabetes of the young, type 132 tests
  • Maturity-onset diabetes of the young, type 43 tests
  • Maturity-onset diabetes of the young, type 61 test
  • Maturity-onset diabetes of the young, type 71 test
  • Maturity-onset diabetes of the young, type 81 test
  • Maturity-onset diabetes of the young, type 91 test
  • McCune-Albright syndrome2 tests
  • McKusick Kaufman syndrome5 tests
  • McLeod neuroacanthocytosis syndrome2 tests
  • Meacham syndrome2 tests
  • Meckel syndrome type 11 test
  • Meckel syndrome type 31 test
  • Meckel syndrome type 43 tests
  • Meckel syndrome type 81 test
  • Meckel syndrome, type 101 test
  • Meckel syndrome, type 91 test
  • Meconium ileus1 test
  • MECP2 duplication syndrome3 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency3 tests
  • Medullary cystic kidney disease 21 test
  • Medulloblastoma2 tests
  • Meester-loeys syndrome1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a2 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
  • Megaloblastic anemia due to dihydrofolate reductase deficiency1 test
  • Megaloblastic anemia due to inborn errors of metabolism4 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
  • Megalocornea1 test
  • Meier-Gorlin syndrome 11 test
  • Meier-Gorlin syndrome 41 test
  • Melanoma astrocytoma syndrome2 tests
  • Melanoma, cutaneous malignant, susceptibility to, 101 test
  • Melanoma-pancreatic cancer syndrome3 tests
  • Melnick-Fraser syndrome4 tests
  • Melnick-Needles syndrome1 test
  • Meningioma, familial4 tests
  • Menkes kinky-hair syndrome2 tests
  • Mental retardation 17, X-linked2 tests
  • Mental retardation 21, X-linked3 tests
  • Mental retardation 30, X-linked2 tests
  • Mental retardation 46, X-linked2 tests
  • Mental retardation 58, X-linked2 tests
  • Mental retardation 63, X-linked2 tests
  • Mental retardation 9, X-linked2 tests
  • Mental retardation 91, X-linked2 tests
  • Mental retardation 92, X-linked1 test
  • Mental retardation 95, X-linked2 tests
  • Mental retardation and distinctive facial features with or without cardiac defects1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia3 tests
  • Mental retardation non-syndromic1 test
  • Mental retardation with language impairment and with or without autistic features2 tests
  • Mental retardation with panhypopituitarism, X-linked1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance2 tests
  • Mental retardation, anterior maxillary protrusion, and strabismus1 test
  • Mental retardation, autosomal dominant 12 tests
  • Mental retardation, autosomal dominant 101 test
  • Mental retardation, autosomal dominant 111 test
  • Mental retardation, autosomal dominant 122 tests
  • 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 22 tests
  • Mental retardation, autosomal dominant 221 test
  • Mental retardation, autosomal dominant 231 test
  • Mental retardation, autosomal dominant 241 test
  • Mental retardation, autosomal dominant 271 test
  • Mental retardation, autosomal dominant 31 test
  • Mental retardation, autosomal dominant 321 test
  • Mental retardation, autosomal dominant 381 test
  • Mental retardation, autosomal dominant 41 test
  • Mental retardation, autosomal dominant 52 tests
  • Mental retardation, autosomal dominant 62 tests
  • Mental retardation, autosomal dominant 72 tests
  • Mental retardation, autosomal dominant 82 tests
  • Mental retardation, autosomal dominant 91 test
  • Mental retardation, autosomal recessive 11 test
  • Mental retardation, autosomal recessive 122 tests
  • Mental retardation, autosomal recessive 131 test
  • Mental retardation, autosomal recessive 142 tests
  • Mental retardation, autosomal recessive 151 test
  • Mental retardation, autosomal recessive 182 tests
  • Mental retardation, autosomal recessive 22 tests
  • Mental retardation, autosomal recessive 272 tests
  • Mental retardation, autosomal recessive 32 tests
  • Mental retardation, autosomal recessive 341 test
  • Mental retardation, autosomal recessive 361 test
  • Mental retardation, autosomal recessive 372 tests
  • Mental retardation, autosomal recessive 382 tests
  • Mental retardation, autosomal recessive 392 tests
  • Mental retardation, autosomal recessive 401 test
  • Mental retardation, autosomal recessive 411 test
  • Mental retardation, autosomal recessive 422 tests
  • Mental retardation, autosomal recessive 462 tests
  • Mental retardation, autosomal recessive 491 test
  • Mental retardation, autosomal recessive 52 tests
  • Mental retardation, autosomal recessive 61 test
  • Mental retardation, autosomal recessive 71 test
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma2 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations4 tests
  • Mental retardation, syndromic 14, X-linked1 test
  • Mental retardation, syndromic, Claes-Jensen type, X-linked2 tests
  • Mental retardation, with or without seizures, ARX-related, X-linked2 tests
  • Mental retardation, X-linked 12 tests
  • Mental retardation, X-linked 1011 test
  • Mental retardation, X-linked 1021 test
  • Mental retardation, X-linked 141 test
  • Mental retardation, X-linked 193 tests
  • Mental retardation, X-linked 452 tests
  • Mental retardation, X-linked 722 tests
  • Mental retardation, X-linked 932 tests
  • Mental retardation, X-linked 962 tests
  • Mental retardation, X-linked 981 test
  • Mental retardation, X-linked 992 tests
  • Mental retardation, X-linked, syndromic 102 tests
  • Mental retardation, X-linked, syndromic 133 tests
  • Mental retardation, X-linked, syndromic 322 tests
  • Mental retardation, X-linked, syndromic, Hedera type2 tests
  • Mental retardation, X-linked, syndromic, martin-probst type2 tests
  • Mental retardation, X-linked, syndromic, Raymond type2 tests
  • Mental retardation, X-linked, syndromic, turner type2 tests
  • Mental retardation, X-linked, syndromic, wu type2 tests
  • Mental retardation, X-linked, with isolated growth hormone deficiency1 test
  • Mental retardation-hypotonic facies syndrome X-linked, 14 tests
  • Meretoja syndrome1 test
  • Merosin deficient congenital muscular dystrophy4 tests
  • MERRF/MELAS overlap syndrome3 tests
  • Mesothelioma, malignant2 tests
  • Metabolic myopathy1 test
  • Metachondromatosis2 tests
  • Metachromatic leukodystrophy3 tests
  • Metaphyseal anadysplasia 22 tests
  • Metaphyseal chondrodysplasia, McKusick type4 tests
  • Metaphyseal dysplasia without hypotrichosis5 tests
  • METHYLCOBALAMIN DEFICIENCY, cblG TYPE3 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency3 tests
  • Methylmalonic acidemia with homocystinuria2 tests
  • Methylmalonic acidemia with homocystinuria cblD2 tests
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE3 tests
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE4 tests
  • Methylmalonic aciduria cblA type3 tests
  • Methylmalonic aciduria cblB type3 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect4 tests
  • Mevalonic aciduria4 tests
  • Michels syndrome1 test
  • Microcephalic osteodysplastic primordial dwarfism type 23 tests
  • Microcephaly with chorioretinopathy, autosomal recessive1 test
  • Microcephaly with mental retardation and digital anomalies3 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1 test
  • Microcephaly, epilepsy, and diabetes syndrome4 tests
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcephaly, postnatal progressive, with seizures and brain atrophy1 test
  • Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy2 tests
  • Microcephaly, short stature, and polymicrogyria with or without seizures2 tests
  • Microcephaly-capillary malformation syndrome1 test
  • Microcytic anemia1 test
  • Microphthalmia syndromic 33 tests
  • Microphthalmia syndromic 41 test
  • Microphthalmia syndromic 63 tests
  • Microphthalmia syndromic 81 test
  • Microphthalmia syndromic 92 tests
  • Microphthalmia, isolated 21 test
  • Microphthalmia, isolated 31 test
  • Microphthalmia, isolated 42 tests
  • Microphthalmia, isolated 51 test
  • Microphthalmia, isolated 62 tests
  • Microphthalmia, isolated 72 tests
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 62 tests
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 111 test
  • Microspherophakia1 test
  • Microvascular complications of diabetes 11 test
  • Migraine1 test
  • Migraine, with or without aura 131 test
  • Miller Dieker syndrome1 test
  • Miller syndrome1 test
  • Minicore myopathy with external ophthalmoplegia2 tests
  • Mirror movements 12 tests
  • Mirror movements 31 test
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency3 tests
  • Mitochondrial complex I deficiency31 tests
  • Mitochondrial complex II deficiency5 tests
  • Mitochondrial complex III deficiency7 tests
  • Mitochondrial complex III deficiency, nuclear type 21 test
  • Mitochondrial complex III deficiency, nuclear type 34 tests
  • Mitochondrial complex III deficiency, nuclear type 52 tests
  • Mitochondrial complex III deficiency, nuclear type 74 tests
  • Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 12 tests
  • Mitochondrial complex v (atp synthase) deficiency, nuclear type 41 test
  • Mitochondrial diseases8 tests
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)4 tests
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 22 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type2 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)5 tests
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)5 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy4 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral2 tests
  • Mitochondrial encephalomyopathy6 tests
  • Mitochondrial myopathy2 tests
  • Mitochondrial myopathy, infantile, transient1 test
  • Mitochondrial pyruvate carrier deficiency3 tests
  • Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1 test
  • Mitochondrial trifunctional protein deficiency4 tests
  • Miyoshi muscular dystrophy 12 tests
  • Miyoshi muscular dystrophy 31 test
  • Mohr-Tranebjaerg syndrome2 tests
  • Molybdenum cofactor deficiency, complementation group A3 tests
  • Molybdenum cofactor deficiency, complementation group B3 tests
  • Molybdenum cofactor deficiency, complementation group C2 tests
  • Monoamine oxidase A deficiency2 tests
  • Monocarboxylate transporter 1 deficiency3 tests
  • MORM syndrome1 test
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mowat-Wilson syndrome3 tests
  • Moyamoya disease 21 test
  • Moyamoya disease 6 with achalasia1 test
  • Mucolipidosis II1 test
  • Mucolipidosis III alpha/beta, atypical1 test
  • Mucolipidosis III Gamma1 test
  • Mucopolysaccharidosis1 test
  • Mucopolysaccharidosis type VI3 tests
  • Mucopolysaccharidosis type VII3 tests
  • Mucopolysaccharidosis, MPS-I-H/S2 tests
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-II1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-III-D1 test
  • Mucopolysaccharidosis, MPS-IV-A3 tests
  • Mucopolysaccharidosis, MPS-IV-B3 tests
  • Muenke syndrome1 test
  • Muir-Torré syndrome1 test
  • Mulibrey nanism syndrome1 test
  • Multicentric osteolysis nephropathy1 test
  • Multicentric osteolysis, nodulosis and arthropathy2 tests
  • 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 exostosis1 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 2a4 tests
  • Multiple endocrine neoplasia, type 2b4 tests
  • Multiple endocrine neoplasia, type 41 test
  • Multiple epiphyseal dysplasia 12 tests
  • Multiple epiphyseal dysplasia 42 tests
  • Multiple exostoses type 21 test
  • Multiple fibrofolliculomas2 tests
  • Multiple gastrointestinal atresias1 test
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
  • Multiple mitochondrial dysfunctions syndrome 14 tests
  • Multiple mitochondrial dysfunctions syndrome 22 tests
  • Multiple mitochondrial dysfunctions syndrome 31 test
  • Multiple mitochondrial dysfunctions syndrome 41 test
  • Multiple myeloma1 test
  • Multiple pterygium syndrome Escobar type1 test
  • Multiple sulfatase deficiency3 tests
  • Muscle AMP deaminase deficiency2 tests
  • Muscle eye brain disease2 tests
  • Muscle hypertrophy1 test
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1 test
  • Muscular dystrophy, congenital, megaconial type1 test
  • Muscular dystrophy, limb-girdle, type 2W1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 18 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 122 tests
  • 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, 82 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 91 test
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 141 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 122 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 141 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71 test
  • Mutilating keratoderma3 tests
  • Myasthenia, limb-girdle, familial2 tests
  • Myasthenic syndrome, congenital, 141 test
  • Myasthenic syndrome, congenital, 81 test
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency5 tests
  • Myasthenic syndrome, slow-channel congenital2 tests
  • Myd88 deficiency1 test
  • Myelodysplastic syndrome4 tests
  • Myelofibrosis6 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • MYH-associated polyposis3 tests
  • Myocardial infarction 12 tests
  • Myoclonic dystonia4 tests
  • Myoclonic epilepsy, familial infantile2 tests
  • Myoclonic-atonic epilepsy1 test
  • Myoclonus with epilepsy with ragged red fibers3 tests
  • Myoclonus, familial cortical2 tests
  • Myofibrillar myopathy1 test
  • Myofibrillar myopathy 12 tests
  • Myofibrillar myopathy, BAG3-related2 tests
  • Myofibrillar myopathy, filamin C-related2 tests
  • Myofibrillar myopathy, ZASP-related2 tests
  • Myoglobinuria, acute recurrent, autosomal recessive2 tests
  • Myopathy with lactic acidosis, hereditary1 test
  • Myopathy with postural muscle atrophy, X-linked1 test
  • Myopathy with tubular aggregates2 tests
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1 test
  • Myopathy, centronuclear, 14 tests
  • Myopathy, centronuclear, 32 tests
  • Myopathy, centronuclear, 42 tests
  • Myopathy, congenital, compton-north2 tests
  • Myopathy, distal, 12 tests
  • Myopathy, distal, 22 tests
  • Myopathy, distal, 42 tests
  • Myopathy, distal, with anterior tibial onset2 tests
  • Myopathy, early-onset, with fatal cardiomyopathy2 tests
  • Myopathy, isolated mitochondrial, autosomal dominant1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 13 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 22 tests
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay2 tests
  • Myopathy, tubular aggregate, 21 test
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosclerosis, autosomal recessive1 test
  • Myosin storage myopathy1 test
  • Myotilinopathy1 test
  • Myotonic dystrophy type 22 tests
  • N-acetylaspartate deficiency1 test
  • N-terminal acetyltransferase deficiency3 tests
  • Nadh-cytochrome b5 reductase deficiency, type I1 test
  • Nager syndrome1 test
  • Nail disorder, nonsyndromic congenital, 82 tests
  • Nail-patella syndrome1 test
  • Nakajo syndrome1 test
  • Nanophthalmos 21 test
  • Narcolepsy 11 test
  • Nasopharyngeal carcinoma2 tests
  • Native American myopathy1 test
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect3 tests
  • Navajo neurohepatopathy2 tests
  • Naxos disease1 test
  • Nemaline myopathy 12 tests
  • Nemaline myopathy 21 test
  • Nemaline myopathy 32 tests
  • Nemaline myopathy 42 tests
  • Nemaline myopathy 52 tests
  • Nemaline myopathy 62 tests
  • Nemaline myopathy 72 tests
  • Neonatal adrenoleucodystrophy1 test
  • Neonatal intrahepatic cholestasis caused by citrin deficiency2 tests
  • Neonatal severe hyperparathyroidism2 tests
  • Neoplasm of ovary4 tests
  • Neoplasm of stomach7 tests
  • Neoplasm of the breast1 test
  • Nephrogenic diabetes insipidus, autosomal1 test
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 11 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
  • Nephronophthisis1 test
  • Nephronophthisis 11 test
  • Nephronophthisis 121 test
  • Nephronophthisis 143 tests
  • Nephronophthisis 151 test
  • Nephronophthisis 161 test
  • Nephronophthisis 191 test
  • Nephronophthisis 41 test
  • Nephronophthisis 71 test
  • Nephronophthisis 91 test
  • Nephronophthisis-like nephropathy 11 test
  • Nephropathic cystinosis3 tests
  • Nephrotic syndrome1 test
  • Nephrotic syndrome, idiopathic, steroid-resistant1 test
  • Nephrotic syndrome, type 5, with or without ocular abnormalities1 test
  • Nephrotic syndrome, type 71 test
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 91 test
  • Netherton syndrome1 test
  • Neu-Laxova syndrome 12 tests
  • Neu-laxova syndrome 22 tests
  • Neural tube defect1 test
  • Neural tube defects, folate-sensitive3 tests
  • Neuroblastoma1 test
  • Neuroblastoma 22 tests
  • Neuroblastoma 33 tests
  • Neurocutaneous melanosis1 test
  • Neurodegeneration with brain iron accumulation1 test
  • Neurodegeneration with brain iron accumulation 42 tests
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurodegeneration with brain iron accumulation 63 tests
  • Neurodevelopmental disorder, MTOR related1 test
  • Neuroferritinopathy1 test
  • Neurofibromatosis, type 14 tests
  • Neurofibromatosis, type 22 tests
  • Neurohypophyseal diabetes insipidus1 test
  • Neuromyotonia and axonal neuropathy, autosomal recessive3 tests
  • Neuronopathy, distal hereditary motor, type viia1 test
  • Neuropathy hereditary sensory and autonomic type 12 tests
  • Neuropathy, hereditary motor and sensory, Okinawa type2 tests
  • Neuropathy, hereditary motor and sensory, russe type1 test
  • Neuropathy, hereditary sensory and autonomic, type VI1 test
  • Neuropathy, hereditary sensory and autonomic, type VIII1 test
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive2 tests
  • Neutral 1 amino acid transport defect1 test
  • Neutral lipid storage disease with myopathy2 tests
  • Neutropenia, nonimmune chronic idiopathic, of adults1 test
  • Neutrophil immunodeficiency syndrome5 tests
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease type C13 tests
  • Niemann-Pick disease type C23 tests
  • Niemann-Pick disease, type A3 tests
  • Niemann-Pick disease, type B2 tests
  • Non-ketotic hyperglycinemia6 tests
  • Non-small cell lung cancer3 tests
  • Non-syndromic X-linked intellectual disability1 test
  • Nonaka myopathy4 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to3 tests
  • Nonpersistence of intestinal lactase1 test
  • Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
  • Nonsyndromic microcephaly1 test
  • Noonan syndrome 13 tests
  • Noonan syndrome 101 test
  • Noonan syndrome 33 tests
  • Noonan syndrome 43 tests
  • Noonan syndrome 53 tests
  • Noonan syndrome 63 tests
  • Noonan syndrome 74 tests
  • Noonan syndrome-like disorder with loose anagen hair 13 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
  • Norum disease1 test
  • not provided3 tests
  • NSDHL-Related Disorders1 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 13 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 22 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 32 tests
  • Nystagmus 6, congenital, X-linked1 test
  • Obesity5 tests
  • Obesity, hyperphagia, and developmental delay1 test
  • Occult macular dystrophy1 test
  • Ocular albinism, type I1 test
  • Ocular albinism, type II1 test
  • Oculocutaneous albinism type 1B1 test
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 41 test
  • Oculodentodigital dysplasia1 test
  • Oculofaciocardiodental syndrome1 test
  • Oculopharyngeal muscular dystrophy1 test
  • Odontoonychodermal dysplasia1 test
  • Oguchi disease 21 test
  • Oguchi's disease1 test
  • Omodysplasia 11 test
  • Oocyte maturation defect 11 test
  • Opitz-Frias syndrome2 tests
  • Opsismodysplasia1 test
  • Optic atrophy 71 test
  • Optic atrophy 91 test
  • Optic atrophy and cataract, autosomal dominant4 tests
  • Oral-facial-digital syndrome1 test
  • Ornithine aminotransferase deficiency2 tests
  • Ornithine carbamoyltransferase deficiency3 tests
  • Orofacial cleft 102 tests
  • Orofacial cleft 112 tests
  • Orofacial cleft 52 tests
  • Orofacial cleft 6, susceptibility to2 tests
  • Orofaciodigital syndrome xiv1 test
  • Orotic aciduria3 tests
  • Orthostatic intolerance1 test
  • Osler hemorrhagic telangiectasia syndrome3 tests
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteogenesis imperfecta1 test
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 73 tests
  • Osteogenesis imperfecta type 83 tests
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I3 tests
  • Osteogenesis imperfecta type III2 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form2 tests
  • Osteogenesis imperfecta, recessive perinatal lethal3 tests
  • Osteogenesis imperfecta, type VI1 test
  • Osteogenesis imperfecta, type xiii1 test
  • Osteogenesis imperfecta, type xiv1 test
  • Osteoglophonic dysplasia2 tests
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis1 test
  • Osteopathia striata with cranial sclerosis1 test
  • Osteopetrosis autosomal dominant type 21 test
  • Osteopetrosis autosomal recessive 12 tests
  • Osteopetrosis autosomal recessive 21 test
  • Osteopetrosis autosomal recessive 41 test
  • Osteopetrosis autosomal recessive 61 test
  • Osteopetrosis autosomal recessive 71 test
  • Osteopetrosis with renal tubular acidosis1 test
  • Osteopetrosis, autosomal recessive 51 test
  • Osteoporosis with pseudoglioma1 test
  • Osteosarcoma3 tests
  • Oto-palato-digital syndrome, type I1 test
  • Oto-palato-digital syndrome, type II1 test
  • Otofaciocervical syndrome 14 tests
  • Otospondylomegaepiphyseal dysplasia1 test
  • Ovalocytosis, southeast asian3 tests
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 21 test
  • Pachydermoperiostosis syndrome1 test
  • Pachyonychia congenita 41 test
  • Pachyonychia congenita type 21 test
  • Pachyonychia congenita, type 12 tests
  • Paget disease of bone 2, early-onset1 test
  • Pallister-Hall syndrome1 test
  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques2 tests
  • Palmoplantar keratoderma, nonepidermolytic, focal1 test
  • Pancreatic agenesis 23 tests
  • Pancreatic agenesis and congenital heart disease2 tests
  • Pancreatic agenesis, congenital2 tests
  • Pancreatic cancer 21 test
  • Pancreatic cancer 32 tests
  • Pancreatic cancer 42 tests
  • Pancreatitis, chronic, susceptibility to1 test
  • Panhypopituitarism X-linked1 test
  • Panic disorder 12 tests
  • Papillon-Lefèvre syndrome1 test
  • Paragangliomas 41 test
  • Paramyotonia congenita of von Eulenburg1 test
  • Parietal foramina 11 test
  • Parietal foramina 22 tests
  • Parkes Weber syndrome1 test
  • Parkinson disease 13 tests
  • Parkinson disease 112 tests
  • Parkinson disease 133 tests
  • Parkinson disease 143 tests
  • Parkinson disease 153 tests
  • Parkinson disease 173 tests
  • Parkinson disease 181 test
  • Parkinson disease 19a, juvenile-onset3 tests
  • Parkinson disease 23 tests
  • Parkinson disease 20, early-onset3 tests
  • Parkinson disease 212 tests
  • Parkinson disease 41 test
  • Parkinson disease 53 tests
  • Parkinson disease 61 test
  • Parkinson disease 6, autosomal recessive early-onset4 tests
  • Parkinson disease 73 tests
  • Parkinson disease 8, autosomal dominant3 tests
  • Parkinson disease 93 tests
  • Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ11 test
  • Parkinson disease, late-onset2 tests
  • Parkinson disease, mitochondrial1 test
  • Parkinsonism with spasticity, X-linked1 test
  • Paroxysmal choreoathetosis3 tests
  • Paroxysmal familial ventricular fibrillation 11 test
  • Partial albinism1 test
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
  • Partington X-linked mental retardation syndrome2 tests
  • Patterned dystrophy of retinal pigment epithelium2 tests
  • Peeling skin syndrome3 tests
  • Peeling skin syndrome 31 test
  • Peeling skin syndrome, acral type2 tests
  • Pelizaeus-Merzbacher disease2 tests
  • Pelvic organ prolapse, susceptibility to1 test
  • Pena-Shokeir syndrome type I2 tests
  • Pendred's syndrome2 tests
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
  • Periventricular nodular heterotopia 12 tests
  • Periventricular nodular heterotopia 71 test
  • Permanent neonatal diabetes mellitus5 tests
  • Peroxisome biogenesis disorder 10A1 test
  • Peroxisome biogenesis disorder 11A1 test
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A1 test
  • Peroxisome biogenesis disorder 13A1 test
  • Peroxisome biogenesis disorder 14B2 tests
  • Peroxisome biogenesis disorder 2a (zellweger)1 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
  • Perry syndrome1 test
  • Persistent hyperinsulinemic hypoglycemia of infancy3 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive1 test
  • Persistent Mullerian duct syndrome2 tests
  • Peters plus syndrome2 tests
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome4 tests
  • Pfeiffer syndrome6 tests
  • Phenylketonuria3 tests
  • Pheochromocytoma12 tests
  • Phosphate transport defect2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
  • Phosphoglycerate dehydrogenase deficiency3 tests
  • Phosphoglycerate kinase 1 deficiency2 tests
  • Phosphoribosylpyrophosphate synthetase superactivity3 tests
  • Phosphoserine aminotransferase deficiency3 tests
  • Phytanic acid storage disease3 tests
  • Pick's disease2 tests
  • Pierpont syndrome1 test
  • Pigmentary pallidal degeneration2 tests
  • Pigmentary retinal dystrophy3 tests
  • Pili torti-deafness syndrome3 tests
  • Pilomatrixoma4 tests
  • Pineal hyperplasia AND diabetes mellitus syndrome2 tests
  • Pitt-Hopkins syndrome4 tests
  • Pituitary hormone deficiency, combined 13 tests
  • Pituitary hormone deficiency, combined 23 tests
  • Pituitary hormone deficiency, combined 33 tests
  • Pituitary hormone deficiency, combined 43 tests
  • Pityriasis rubra pilaris1 test
  • Plasminogen activator inhibitor type 1 deficiency1 test
  • Plasminogen deficiency, type I1 test
  • Platelet aggregation, spontaneous1 test
  • Platelet glycoprotein IV deficiency1 test
  • Platelet-type bleeding disorder 153 tests
  • Platelet-type bleeding disorder 162 tests
  • Platelet-type bleeding disorder 173 tests
  • Platelet-type bleeding disorder 83 tests
  • Platelet-type bleeding disorder 91 test
  • Pleuropulmonary blastoma1 test
  • Pneumothorax, primary spontaneous2 tests
  • Poikiloderma with neutropenia1 test
  • Polyarteritis nodosa1 test
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease, adult type2 tests
  • Polycystic kidney disease, autosomal dominant1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy3 tests
  • Polycystic ovaries2 tests
  • Polycythemia vera2 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polyglucosan body disease, adult2 tests
  • Polyglucosan body myopathy 1 with or without immunodeficiency1 test
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
  • Polymicrogyria with optic nerve hypoplasia1 test
  • Polymicrogyria, asymmetric1 test
  • Polymicrogyria, bilateral frontoparietal2 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
  • Polymicrogyria, bilateral temporooccipital1 test
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1 test
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
  • Pontocerebellar hypoplasia type 1A2 tests
  • Pontocerebellar hypoplasia type 2A2 tests
  • Pontocerebellar hypoplasia type 2B2 tests
  • Pontocerebellar hypoplasia type 2C2 tests
  • Pontocerebellar hypoplasia type 2D2 tests
  • Pontocerebellar hypoplasia type 41 test
  • Pontocerebellar hypoplasia type 62 tests
  • Pontocerebellar hypoplasia type 82 tests
  • Pontocerebellar hypoplasia, type 101 test
  • Pontocerebellar hypoplasia, type 1b2 tests
  • Pontocerebellar hypoplasia, type 2e1 test
  • Pontocerebellar hypoplasia, type 92 tests
  • Pontoneocerebellar hypoplasia1 test
  • Popliteal pterygium syndrome2 tests
  • Popliteal pterygium syndrome lethal type1 test
  • Porencephaly 11 test
  • Porencephaly 22 tests
  • Poretti-boltshauser syndrome1 test
  • Porokeratosis, disseminated superficial actinic 13 tests
  • Porphobilinogen synthase deficiency1 test
  • Porphyria cutanea tarda1 test
  • Porphyria, acute intermittent, nonerythroid variant1 test
  • Posterior column ataxia with retinitis pigmentosa3 tests
  • Posterior polymorphous corneal dystrophy 11 test
  • Potassium aggravated myotonia2 tests
  • Prader-Willi syndrome2 tests
  • Preaxial deficiency, postaxial polydactyly and hypospadias1 test
  • Preeclampsia/eclampsia 51 test
  • Premature ovarian failure 11 test
  • Pretibial epidermolysis bullosa3 tests
  • Primary aldosteronism, seizures, and neurologic abnormalities4 tests
  • Primary autosomal recessive microcephaly2 tests
  • Primary autosomal recessive microcephaly 13 tests
  • Primary autosomal recessive microcephaly 101 test
  • Primary autosomal recessive microcephaly 111 test
  • Primary autosomal recessive microcephaly 131 test
  • Primary autosomal recessive microcephaly 24 tests
  • Primary autosomal recessive microcephaly 33 tests
  • Primary autosomal recessive microcephaly 43 tests
  • Primary autosomal recessive microcephaly 53 tests
  • Primary autosomal recessive microcephaly 64 tests
  • Primary autosomal recessive microcephaly 73 tests
  • Primary autosomal recessive microcephaly 81 test
  • Primary autosomal recessive microcephaly 93 tests
  • Primary ciliary dyskinesia 231 test
  • Primary ciliary dyskinesia 242 tests
  • Primary ciliary dyskinesia 251 test
  • Primary erythromelalgia1 test
  • Primary hyperoxaluria, type I3 tests
  • Primary hyperoxaluria, type II1 test
  • Primary hypertrophic osteoarthropathy, autosomal recessive 21 test
  • Primary hypomagnesemia1 test
  • Primary localized cutaneous amyloidosis 11 test
  • Primary open angle glaucoma juvenile onset 11 test
  • Primary pulmonary hypertension1 test
  • Primary pulmonary hypertension 21 test
  • Progressive external ophthalmoplegia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 63 tests
  • Progressive familial heart block type 1A1 test
  • Progressive familial heart block type 1B1 test
  • Progressive familial intrahepatic cholestasis 21 test
  • Progressive familial intrahepatic cholestasis 31 test
  • Progressive familial intrahepatic cholestasis 42 tests
  • Progressive intrahepatic cholestasis3 tests
  • Progressive myositis ossificans1 test
  • Progressive osseous heteroplasia3 tests
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive sclerosing poliodystrophy4 tests
  • Prolidase deficiency3 tests
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome1 test
  • Proline dehydrogenase deficiency3 tests
  • Prolonged electroretinal response suppression2 tests
  • Proopiomelanocortin deficiency3 tests
  • Propionic acidemia4 tests
  • Proprotein convertase 1/3 deficiency1 test
  • Prostate cancer, hereditary, 11 test
  • Prostate cancer, hereditary, 21 test
  • Protein S deficiency3 tests
  • Prothrombin deficiency, congenital2 tests
  • Protoporphyria, erythropoietic, X-linked3 tests
  • Proud Levine Carpenter syndrome1 test
  • Proximal renal tubular acidosis1 test
  • Prune belly syndrome1 test
  • Pseudo von Willebrand disease3 tests
  • Pseudo-Hurler polydystrophy2 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome3 tests
  • Pseudoexfoliation glaucoma1 test
  • Pseudohyperkalemia Cardiff2 tests
  • Pseudohypoaldosteronism type 1 autosomal dominant1 test
  • Pseudohypoaldosteronism type 1 autosomal recessive5 tests
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C2 tests
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoparathyroidism type 1A3 tests
  • Pseudohypoparathyroidism type 1B3 tests
  • Pseudohypoparathyroidism type 1C3 tests
  • Pseudoneonatal adrenoleukodystrophy4 tests
  • Pseudoprimary hyperaldosteronism2 tests
  • Pseudopseudohypoparathyroidism3 tests
  • Pseudoxanthoma elasticum1 test
  • Pseudoxanthoma elasticum, forme fruste1 test
  • Psoriasiform dermatitis1 test
  • Psoriasis 11, susceptibility to1 test
  • Psoriasis susceptibility 21 test
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism1 test
  • PTEN hamartoma tumor syndrome5 tests
  • Ptosis, hereditary congenital 11 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 41 test
  • Pulmonary hypertension, neonatal, susceptibility to2 tests
  • Pulmonary Surfactant Metabolism Dysfunction2 tests
  • Pulmonary veno-occlusive disease2 tests
  • Purine-nucleoside phosphorylase deficiency5 tests
  • Pustular psoriasis, generalized1 test
  • Pyknodysostosis1 test
  • Pyogenic arthritis, pyoderma gangrenosum and acne1 test
  • Pyridoxal 5'-phosphate-dependent epilepsy3 tests
  • Pyridoxine-dependent epilepsy4 tests
  • Pyruvate carboxylase deficiency6 tests
  • Pyruvate dehydrogenase E1-alpha deficiency5 tests
  • Pyruvate dehydrogenase E1-beta deficiency3 tests
  • Pyruvate dehydrogenase E2 deficiency3 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency3 tests
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency3 tests
  • Pyruvate dehydrogenase phosphatase deficiency3 tests
  • Pyruvate kinase deficiency of red cells3 tests
  • Radial aplasia-thrombocytopenia syndrome3 tests
  • Raine syndrome1 test
  • Rapadilino syndrome1 test
  • Rapp-Hodgkin ectodermal dysplasia syndrome2 tests
  • RAS-associated autoimmune leukoproliferative disorder3 tests
  • Recessive dystrophic epidermolysis bullosa3 tests
  • Recurrent abortion1 test
  • Reis-Bucklers' corneal dystrophy1 test
  • Renal adysplasia3 tests
  • Renal carnitine transport defect3 tests
  • Renal cell carcinoma, nonpapillary5 tests
  • Renal cell carcinoma, papillary, 14 tests
  • Renal coloboma syndrome3 tests
  • Renal dysplasia3 tests
  • Renal dysplasia diffuse cystic2 tests
  • Renal hamartomas nephroblastomatosis and fetal gigantism1 test
  • Renal hypoplasia, isolated1 test
  • Renal hypouricemia 22 tests
  • Renal tubular acidosis with progressive nerve deafness3 tests
  • Renal tubular acidosis, distal, autosomal dominant2 tests
  • Renal tubular acidosis, distal, autosomal recessive1 test
  • Renal tubular acidosis, distal, with hemolytic anemia2 tests
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
  • Renpenning syndrome 12 tests
  • Reticular dysgenesis3 tests
  • Retinal cone dystrophy 3B1 test
  • Retinal cone dystrophy 41 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities1 test
  • Retinal dystrophy, early-onset severe1 test
  • Retinitis pigmentosa 12 tests
  • 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 193 tests
  • Retinitis pigmentosa 21 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 641 test
  • Retinitis pigmentosa 661 test
  • Retinitis pigmentosa 73 tests
  • Retinitis pigmentosa 91 test
  • Retinoblastoma5 tests
  • Rett syndrome3 tests
  • Rett syndrome, congenital variant3 tests
  • Revesz syndrome1 test
  • Rhabdoid tumor predisposition syndrome 13 tests
  • Rhabdomyosarcoma alveolar2 tests
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Riboflavin deficiency3 tests
  • Rigidity and multifocal seizure syndrome, lethal neonatal1 test
  • Rippling muscle disease1 test
  • Rippling muscle disease 21 test
  • Roberts-SC phocomelia syndrome2 tests
  • Robinow syndrome1 test
  • Robinow syndrome, autosomal dominant 21 test
  • Robinow syndrome, autosomal recessive1 test
  • Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2 tests
  • Rothmund-Thomson syndrome2 tests
  • Rotor syndrome4 tests
  • Roussy-Lévy syndrome3 tests
  • Rubinstein-Taybi syndrome3 tests
  • Rubinstein-Taybi syndrome 21 test
  • Saccharopinuria3 tests
  • Sacral defect with anterior meningocele1 test
  • Saethre-Chotzen syndrome4 tests
  • Salla disease2 tests
  • Sandhoff disease4 tests
  • Sarcoidosis, early-onset1 test
  • Sarcosine dehydrogenase deficiency1 test
  • Sarcotubular myopathy1 test
  • Scaphocephaly, maxillary retrusion, and mental retardation3 tests
  • Scapuloperoneal myopathy, MYH7-related1 test
  • Scapuloperoneal syndrome, neurogenic, Kaeser type1 test
  • Schaaf-yang syndrome2 tests
  • Schimke immunoosseous dysplasia1 test
  • Schindler disease, type 11 test
  • Schinzel-Giedion syndrome1 test
  • SCHIZENCEPHALY1 test
  • Schizophrenia2 tests
  • Schizophrenia 151 test
  • Schuurs-hoeijmakers syndrome1 test
  • Schwartz Jampel syndrome type 12 tests
  • SCID due to absent class II HLA antigens1 test
  • Seckel syndrome 14 tests
  • Seckel syndrome 23 tests
  • Seckel syndrome 44 tests
  • Seckel syndrome 54 tests
  • Seckel syndrome 63 tests
  • Seckel syndrome 71 test
  • Seckel syndrome 82 tests
  • Secondary hypothyroidism3 tests
  • Segawa syndrome, autosomal recessive2 tests
  • Selective tooth agenesis 12 tests
  • Senior-Loken syndrome 51 test
  • Senior-Loken syndrome 62 tests
  • Senior-Loken syndrome 71 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4 tests
  • Sepiapterin reductase deficiency4 tests
  • Septo-optic dysplasia sequence3 tests
  • Serkal syndrome2 tests
  • SeSAME syndrome4 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
  • Severe combined immunodeficiency disease3 tests
  • Severe combined immunodeficiency due to ADA deficiency5 tests
  • Severe combined immunodeficiency due to IL2 deficiency1 test
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation5 tests
  • Severe combined immunodeficiency with sensitivity to ionizing radiation4 tests
  • Severe combined immunodeficiency, atypical5 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative4 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive6 tests
  • Severe congenital neutropenia 2, autosomal dominant1 test
  • Severe congenital neutropenia 3, autosomal recessive1 test
  • Severe congenital neutropenia 4, autosomal recessive1 test
  • Severe congenital neutropenia 5, autosomal recessive1 test
  • Severe congenital neutropenia 6, autosomal recessive3 tests
  • Severe congenital neutropenia autosomal dominant3 tests
  • Severe congenital neutropenia X-linked2 tests
  • Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive4 tests
  • Severe myoclonic epilepsy in infancy7 tests
  • Severe neonatal-onset encephalopathy with microcephaly3 tests
  • Severe X-linked myotubular myopathy2 tests
  • Short QT syndrome 13 tests
  • Short QT syndrome 23 tests
  • Short QT syndrome 31 test
  • Short rib-polydactyly syndrome, Majewski type1 test
  • Short stature, idiopathic, X-linked1 test
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly1 test
  • SHORT syndrome1 test
  • Shprintzen syndrome1 test
  • Shprintzen-Goldberg syndrome2 tests
  • Shwachman syndrome3 tests
  • Shy-Drager syndrome2 tests
  • Sialidosis type I2 tests
  • Sialidosis, type II2 tests
  • Sialuria2 tests
  • Sick sinus syndrome 1, autosomal recessive1 test
  • Sick sinus syndrome 3, susceptibility to1 test
  • Siderius X-linked mental retardation syndrome2 tests
  • Sideroblastic anemia 3, pyridoxine-refractory1 test
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay2 tests
  • Silver-Russell syndrome due to imprinting defect of 11p151 test
  • Simpson-Golabi-Behmel syndrome4 tests
  • Sinoatrial node dysfunction and deafness3 tests
  • Sjögren-Larsson syndrome4 tests
  • Skeletal defects, genital hypoplasia, and mental retardation1 test
  • Skin fragility woolly hair syndrome1 test
  • Skin/hair/eye pigmentation, variation in, 42 tests
  • Skin/hair/eye pigmentation, variation in, 61 test
  • Sleep-wake schedule disorder, delayed phase type1 test
  • Slowed nerve conduction velocity, autosomal dominant2 tests
  • Small cell lung cancer2 tests
  • Small fiber neuropathy1 test
  • Smith-Lemli-Opitz syndrome3 tests
  • Smith-Magenis syndrome2 tests
  • Smith-McCort dysplasia 11 test
  • Snyder Robinson syndrome2 tests
  • Somatotroph adenoma5 tests
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome 13 tests
  • Spastic ataxia 5, autosomal recessive1 test
  • Spastic ataxia Charlevoix-Saguenay type2 tests
  • Spastic paraplegia 12 tests
  • Spastic paraplegia 103 tests
  • Spastic paraplegia 11, autosomal recessive2 tests
  • Spastic paraplegia 122 tests
  • Spastic paraplegia 132 tests
  • Spastic paraplegia 152 tests
  • Spastic paraplegia 172 tests
  • Spastic paraplegia 182 tests
  • Spastic paraplegia 22 tests
  • Spastic paraplegia 262 tests
  • Spastic paraplegia 28, autosomal recessive1 test
  • Spastic paraplegia 32 tests
  • Spastic paraplegia 30, autosomal recessive2 tests
  • Spastic paraplegia 31, autosomal dominant2 tests
  • Spastic paraplegia 33, autosomal dominant2 tests
  • Spastic paraplegia 353 tests
  • Spastic paraplegia 392 tests
  • Spastic paraplegia 4, autosomal dominant2 tests
  • Spastic paraplegia 42, autosomal dominant2 tests
  • Spastic paraplegia 44, autosomal recessive2 tests
  • Spastic paraplegia 45, autosomal recessive2 tests
  • Spastic paraplegia 46, autosomal recessive2 tests
  • Spastic paraplegia 47, autosomal recessive2 tests
  • Spastic paraplegia 48, autosomal recessive2 tests
  • Spastic paraplegia 49, autosomal recessive2 tests
  • Spastic paraplegia 50, autosomal recessive3 tests
  • Spastic paraplegia 51, autosomal recessive2 tests
  • Spastic paraplegia 52, autosomal recessive2 tests
  • Spastic paraplegia 53, autosomal recessive1 test
  • Spastic paraplegia 54, autosomal recessive2 tests
  • Spastic paraplegia 55, autosomal recessive2 tests
  • Spastic paraplegia 56, autosomal recessive2 tests
  • Spastic paraplegia 57, autosomal recessive2 tests
  • Spastic paraplegia 591 test
  • Spastic paraplegia 5A2 tests
  • Spastic paraplegia 62 tests
  • Spastic paraplegia 601 test
  • Spastic paraplegia 61, autosomal recessive1 test
  • Spastic paraplegia 62, autosomal recessive1 test
  • Spastic paraplegia 63, autosomal recessive2 tests
  • Spastic paraplegia 64, autosomal recessive1 test
  • spastic paraplegia 661 test
  • Spastic paraplegia 681 test
  • Spastic paraplegia 72 tests
  • Spastic paraplegia 711 test
  • Spastic paraplegia 72, autosomal recessive2 tests
  • Spastic paraplegia 73, autosomal dominant1 test
  • Spastic paraplegia 75, autosomal recessive1 test
  • Spastic paraplegia 82 tests
  • Speech-language disorder 11 test
  • Spermatogenesis arrest1 test
  • Spermatogenic failure 81 test
  • Spermatogenic failure 91 test
  • Spherocytosis1 test
  • Spherocytosis type 13 tests
  • Spherocytosis type 24 tests
  • Spherocytosis type 33 tests
  • Spherocytosis type 53 tests
  • Spheroid body myopathy1 test
  • Sphingolipid activator protein 1 deficiency4 tests
  • Spiegler-Brooke syndrome1 test
  • Spinal muscular atrophy, distal, autosomal recessive, 12 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 52 tests
  • Spinal muscular atrophy, jokela type1 test
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1 test
  • Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant2 tests
  • Spinocerebellar ataxia 11 test
  • Spinocerebellar ataxia 101 test
  • Spinocerebellar ataxia 111 test
  • Spinocerebellar ataxia 132 tests
  • Spinocerebellar ataxia 142 tests
  • Spinocerebellar ataxia 152 tests
  • Spinocerebellar ataxia 182 tests
  • Spinocerebellar ataxia 192 tests
  • Spinocerebellar ataxia 21 test
  • Spinocerebellar ataxia 211 test
  • Spinocerebellar ataxia 232 tests
  • Spinocerebellar ataxia 262 tests
  • Spinocerebellar ataxia 272 tests
  • Spinocerebellar ataxia 282 tests
  • Spinocerebellar ataxia 291 test
  • Spinocerebellar ataxia 311 test
  • Spinocerebellar ataxia 352 tests
  • Spinocerebellar ataxia 361 test
  • Spinocerebellar ataxia 381 test
  • Spinocerebellar ataxia 43 tests
  • Spinocerebellar ataxia 52 tests
  • Spinocerebellar ataxia 61 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia 81 test
  • Spinocerebellar ataxia 91 test
  • Spinocerebellar ataxia autosomal recessive 12 tests
  • Spinocerebellar ataxia autosomal recessive with axonal neuropathy3 tests
  • Spinocerebellar ataxia, autosomal recessive 102 tests
  • Spinocerebellar ataxia, autosomal recessive 111 test
  • Spinocerebellar ataxia, autosomal recessive 122 tests
  • Spinocerebellar ataxia, autosomal recessive 132 tests
  • Spinocerebellar ataxia, autosomal recessive 151 test
  • Spinocerebellar ataxia, autosomal recessive 161 test
  • Spinocerebellar ataxia, autosomal recessive 172 tests
  • Spinocerebellar ataxia, autosomal recessive 181 test
  • Spinocerebellar ataxia, autosomal recessive 82 tests
  • Spinocerebellar ataxia, X-linked 12 tests
  • Split-hand/foot malformation 1 with sensorineural hearing loss1 test
  • Split-hand/foot malformation 41 test
  • Split-hand/foot malformation 61 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocostal dysostosis 1, autosomal recessive1 test
  • Spondylocostal dysostosis 21 test
  • Spondylocostal dysostosis 31 test
  • Spondylocostal dysostosis 51 test
  • Spondyloenchondrodysplasia with immune dysregulation1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity2 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondylometaepiphyseal dysplasia short limb-hand type1 test
  • Spongy degeneration of central nervous system4 tests
  • Squamous cell carcinoma of the head and neck3 tests
  • STAR syndrome1 test
  • Stargardt disease1 test
  • Stargardt disease 14 tests
  • Stargardt Disease 31 test
  • Stargardt disease 41 test
  • Steatocystoma multiplex1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome1 test
  • Stickler syndrome type 11 test
  • Stickler syndrome, type 23 tests
  • Stickler syndrome, type 31 test
  • Stickler syndrome, type 51 test
  • Stiff skin syndrome2 tests
  • Sting-associated vasculopathy, infantile-onset1 test
  • Stocco dos Santos syndrome2 tests
  • Stomatin-deficient cryohydrocytosis with neurologic defects2 tests
  • Stormorken syndrome2 tests
  • Striatal degeneration, autosomal dominant 12 tests
  • Striatal necrosis, bilateral, and progressive polyneuropathy4 tests
  • Stuve-Wiedemann syndrome1 test
  • Succinate-semialdehyde dehydrogenase deficiency4 tests
  • Succinyl-CoA acetoacetate transferase deficiency3 tests
  • Sucrase-isomaltase deficiency1 test
  • SUDDEN INFANT DEATH SYNDROME1 test
  • Sudden infant death with dysgenesis of the testes syndrome3 tests
  • Sulfite oxidase deficiency3 tests
  • Supravalvar aortic stenosis1 test
  • Surfactant metabolism dysfunction, pulmonary, 14 tests
  • Surfactant metabolism dysfunction, pulmonary, 24 tests
  • Surfactant metabolism dysfunction, pulmonary, 34 tests
  • Surfactant metabolism dysfunction, pulmonary, 45 tests
  • Surfactant metabolism dysfunction, pulmonary, 52 tests
  • Susceptibility to malaria1 test
  • Sveinsson chorioretinal atrophy1 test
  • Symmetrical dyschromatosis of extremities1 test
  • Syndactyly type 11 test
  • Syndactyly type 91 test
  • Syndactyly, type V1 test
  • Syndromic mental retardation, Nascimento type, X-linked2 tests
  • Syndromic X-linked mental retardation, Cabezas type2 tests
  • Systemic lupus erythematosus2 tests
  • Systemic lupus erythematosus 11 test
  • Systemic lupus erythematosus 161 test
  • Systemic lupus erythematosus 61 test
  • Systemic lupus erythematosus 92 tests
  • T-cell immunodeficiency, congenital alopecia and nail dystrophy3 tests
  • Talipes equinovarus1 test
  • Tangier disease1 test
  • Tay-Sachs disease4 tests
  • Tay-Sachs disease, variant AB1 test
  • Telangiectasia, hereditary hemorrhagic, type 52 tests
  • Temple-Baraitser syndrome1 test
  • Temtamy preaxial brachydactyly syndrome1 test
  • Temtamy syndrome1 test
  • Terminal osseous dysplasia1 test
  • Testicular anomalies with or without congenital heart disease1 test
  • Testosterone 17-beta-dehydrogenase deficiency2 tests
  • Tetraamelia, autosomal recessive1 test
  • Tetralogy of Fallot5 tests
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)1 test
  • Thiopurine methyltransferase deficiency1 test
  • Thoracic aortic aneurysm and aortic dissection2 tests
  • Three M syndrome 12 tests
  • Three M syndrome 21 test
  • Three M syndrome 31 test
  • Thrombocythemia 31 test
  • Thrombocytopenia1 test
  • Thrombocytopenia 24 tests
  • Thrombocytopenia 41 test
  • Thrombocytopenia 51 test
  • Thrombocytopenia, neonatal alloimmune1 test
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis3 tests
  • Thrombocytopenia, X-linked3 tests
  • Thrombocytopenia, X-linked, intermittent1 test
  • Thrombophilia3 tests
  • Thrombophilia due to activated protein C resistance2 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia, X-linked, due to factor IX defect3 tests
  • Thyroglobulin synthesis defect3 tests
  • Thyroid agenesis3 tests
  • Thyroid cancer, follicular6 tests
  • Thyroid dyshormonogenesis 12 tests
  • Thyroid dyshormonogenesis 62 tests
  • Thyroid hormone metabolism, abnormal1 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyrotoxic periodic paralysis1 test
  • Thyrotoxic periodic paralysis 21 test
  • Thyrotropin-releasing hormone resistance, generalized2 tests
  • Tietz syndrome3 tests
  • Timothy syndrome2 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Tooth agenesis, selective, 31 test
  • Tourette Syndrome1 test
  • Townes-Brocks syndrome 14 tests
  • Transcobalamin II deficiency3 tests
  • Transient myeloproliferative disorder of Down syndrome1 test
  • Transient neonatal diabetes mellitus 33 tests
  • Transposition of the great arteries, dextro-looped 12 tests
  • Transposition of the great arteries, dextro-looped 32 tests
  • Tremor, hereditary essential, 43 tests
  • Tricho-dento-osseous syndrome1 test
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichothiodystrophy, nonphotosensitive 11 test
  • Trichothiodystrophy, type 13 tests
  • Triglyceride storage disease with ichthyosis1 test
  • Trigonocephaly 12 tests
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency2 tests
  • Tropical calcific pancreatitis2 tests
  • Troyer syndrome2 tests
  • Tuberous sclerosis 13 tests
  • Tuberous sclerosis 23 tests
  • Tuberous sclerosis syndrome3 tests
  • Tubulin, beta2 tests
  • Tuftelin deficiency1 test
  • Tumor susceptibility linked to germline BAP1 mutations2 tests
  • Turcot syndrome2 tests
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Tyrosinase-positive oculocutaneous albinism1 test
  • Tyrosine kinase 2 deficiency1 test
  • Tyrosinemia type 23 tests
  • Tyrosinemia type I4 tests
  • UDPglucose-4-epimerase deficiency3 tests
  • Ullrich congenital muscular dystrophy 14 tests
  • Ullrich congenital muscular dystrophy 21 test
  • Ulna and fibula absence of with severe limb deficiency1 test
  • Ulnar-mammary syndrome1 test
  • Unspecified encephalopathy1 test
  • Unverricht-Lundborg syndrome3 tests
  • Upshaw-Schulman syndrome3 tests
  • Urocanate hydratase deficiency1 test
  • Urofacial syndrome 21 test
  • Usher syndrome type 21 test
  • Usher syndrome, type 1D2 tests
  • Usher syndrome, type 1J1 test
  • Usher syndrome, type 2C3 tests
  • Usher syndrome, type 3A1 test
  • UV-sensitive syndrome 31 test
  • Van der Woude syndrome3 tests
  • Van Maldergem syndrome 21 test
  • Variegate porphyria1 test
  • VATER association1 test
  • Ventricular septal defect 11 test
  • Ventricular septal defect 22 tests
  • Ventricular septal defect 31 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 21 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 31 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 43 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1 test
  • Ventriculomegaly with cystic kidney disease2 tests
  • Vertical talus, congenital1 test
  • Very long chain acyl-CoA dehydrogenase deficiency4 tests
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Visceral heterotaxy 5, autosomal1 test
  • Visceral myopathy1 test
  • Vitamin d hydroxylation-deficient rickets, type 1b1 test
  • Vitamin D-dependent rickets, type 11 test
  • Vitamin D-dependent rickets, type 21 test
  • Vitreoretinochoroidopathy1 test
  • Von Hippel-Lindau syndrome1 test
  • von Willebrand disease type 11 test
  • Waardenburg syndrome type 13 tests
  • Waardenburg syndrome type 2A4 tests
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 4A2 tests
  • Waardenburg syndrome type 4B2 tests
  • Waardenburg syndrome type 4C1 test
  • Wagner syndrome2 tests
  • Waldenstrom macroglobulinemia1 test
  • Warburg micro syndrome 16 tests
  • Warburg micro syndrome 23 tests
  • Warburg micro syndrome 35 tests
  • Warburg micro syndrome 41 test
  • Warfarin response2 tests
  • Warsaw breakage syndrome1 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
  • Weaver syndrome2 tests
  • Webb-Dattani syndrome1 test
  • Weill-Marchesani syndrome 11 test
  • Weill-Marchesani syndrome 21 test
  • Weill-Marchesani syndrome 31 test
  • Werdnig-Hoffmann disease2 tests
  • Werner syndrome1 test
  • WFS1-Related Disorders2 tests
  • White-sutton syndrome2 tests
  • Wieacker syndrome1 test
  • Wiedemann-Steiner syndrome1 test
  • Williams syndrome3 tests
  • Williams-Beuren region duplication syndrome1 test
  • Wilms tumor 13 tests
  • Wilson disease4 tests
  • Wiskott-Aldrich syndrome2 tests
  • Wolcott-Rallison dysplasia4 tests
  • Wolff-Parkinson-White pattern2 tests
  • Wolfram syndrome1 test
  • Wolfram syndrome 22 tests
  • Wolfram-like syndrome, autosomal dominant2 tests
  • Woolly hair, autosomal dominant3 tests
  • X-linked agammaglobulinemia3 tests
  • X-linked agammaglobulinemia with growth hormone deficiency2 tests
  • X-linked hereditary motor and sensory neuropathy1 test
  • X-linked hydrocephalus syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency3 tests
  • X-Linked Mental Retardation 412 tests
  • X-Linked Mental Retardation 881 test
  • X-Linked Mental Retardation 891 test
  • X-Linked mental retardation 906 tests
  • X-linked mental retardation with marfanoid habitus syndrome1 test
  • X-linked recessive nephrolithiasis with renal failure1 test
  • X-linked severe combined immunodeficiency4 tests
  • Xerocytosis1 test
  • Xeroderma pigmentosum, group C1 test
  • Xeroderma pigmentosum, group D1 test
  • Xeroderma pigmentosum, group E1 test
  • Xeroderma pigmentosum, group F1 test
  • Xeroderma pigmentosum, type 11 test
  • Xeroderma pigmentosum, variant type1 test
  • XFE progeroid syndrome1 test
  • Xia-Gibbs syndrome1 test
  • Zellweger syndrome14 tests
  • ZNF711-Related X-linked Mental Retardation2 tests
  • Zonular pulverulent cataract 31 test
  • Zunich neuroectodermal syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Whole Genome Sequencing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 99D2049715, Expiration date: 2019-04-02
  • CAP, Number: 8005167, Expiration date: 2019-01-21
  • ISO15189:2012 (CAP # 8005167), Number: ISO15189:2012 (CAP # 8005167), Expiration date: 2018-08-06

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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