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Molecular Genetics Laboratory

GTR Lab ID: 21463, Last updated:2022-09-20

Personnel

Conditions and tests

  • 3-Methylglutaconic aciduria type 31 test
  • Acquired polycythemia vera1 test
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
  • Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency1 test
  • Alpha mannosidosis type II1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha-N-acetylgalactosaminidase deficiency type 11 test
  • Alpha-N-acetylgalactosaminidase deficiency type 21 test
  • Alpha-thalassemia/intellectual disability syndrome1 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED1 test
  • Angelman syndrome1 test
  • Arginase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Aspartylglucosaminuria1 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
  • Ataxia-telangiectasia syndrome2 tests
  • Atransferrinemia1 test
  • Attenuated familial adenomatous polyposis2 tests
  • Atypical Gaucher disease due to saposin C deficiency1 test
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal recessive nonsyndromic hearing loss 1A2 tests
  • Beckwith-Wiedemann syndrome1 test
  • Beta-D-mannosidosis1 test
  • Breast cancer, early-onset4 tests
  • Breast cancer, familial male4 tests
  • Breast cancer, susceptibility to2 tests
  • Breast neoplasm3 tests
  • Breast-ovarian cancer, familial, susceptibility to, 13 tests
  • Breast-ovarian cancer, familial, susceptibility to, 23 tests
  • Carcinoma of colon1 test
  • Carcinoma of pancreas1 test
  • Cardiomyopathy and deafness due to tRNA lysine gene mutation1 test
  • Cardiomyopathy, infantile hypertrophic1 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
  • Ceroid lipofuscinosis, neuronal, 6A1 test
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2H1 test
  • Charcot-Marie-Tooth disease axonal type 2K1 test
  • Charcot-Marie-Tooth disease axonal type 2L1 test
  • Charcot-Marie-Tooth disease axonal type 2O1 test
  • Charcot-Marie-Tooth disease axonal type 2P1 test
  • Charcot-Marie-Tooth disease axonal type 2S1 test
  • Charcot-Marie-Tooth disease axonal type 2T1 test
  • Charcot-Marie-Tooth disease axonal type 2U1 test
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 1D1 test
  • Charcot-Marie-Tooth disease type 1E4 tests
  • Charcot-Marie-Tooth disease type 21 test
  • Charcot-Marie-Tooth disease type 2A11 test
  • Charcot-Marie-Tooth disease type 2A23 tests
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2D1 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 41 test
  • Charcot-Marie-Tooth disease type 4A1 test
  • Charcot-Marie-Tooth disease type 4B11 test
  • Charcot-Marie-Tooth disease type 4B21 test
  • Charcot-Marie-Tooth disease type 4C1 test
  • Charcot-Marie-Tooth disease type 4D1 test
  • Charcot-Marie-Tooth disease type 4H1 test
  • Charcot-Marie-Tooth disease type 4J1 test
  • Charcot-Marie-Tooth disease X-linked dominant 12 tests
  • Charcot-Marie-Tooth disease X-linked dominant 61 test
  • Charcot-Marie-Tooth disease X-linked recessive 41 test
  • Charcot-Marie-Tooth disease X-linked recessive 51 test
  • Charcot-Marie-Tooth disease, type 2A1 test
  • Charcot-Marie-Tooth disease, type I1 test
  • Charcot-Marie-Tooth disease, type IA3 tests
  • Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
  • Charcot-Marie-Tooth Neuropathy X1 test
  • CHARGE association1 test
  • Citrin deficiency1 test
  • Citrullinemia type I1 test
  • Citrullinemia type II1 test
  • Coffin Siris/Intellectual Disability1 test
  • Colorectal cancer, hereditary nonpolyposis, type 21 test
  • Colorectal cancer, hereditary nonpolyposis, type 41 test
  • Colorectal cancer, hereditary nonpolyposis, type 51 test
  • Colorectal cancer, hereditary nonpolyposis, type 81 test
  • Colorectal cancer, susceptibility to, 101 test
  • Combined deficiency of sialidase AND beta galactosidase1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital hyperammonemia, type I2 tests
  • Congenital hypomyelinating neuropathy1 test
  • Cowden syndrome1 test
  • Cystic fibrosis1 test
  • Cytochrome-c oxidase deficiency disease1 test
  • Danon disease1 test
  • De Lange syndrome1 test
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of hyaluronoglucosaminidase1 test
  • Dejerine-Sottas disease1 test
  • Disorder of the urea cycle metabolism1 test
  • Encephalopathy due to prosaposin deficiency1 test
  • Endometrial carcinoma2 tests
  • Epilepsy1 test
  • Exercise intolerance1 test
  • Fabry disease1 test
  • Fabry disease, cardiac variant1 test
  • Familial adenomatous polyposis 12 tests
  • Familial cancer of breast2 tests
  • Familial colorectal cancer2 tests
  • Familial medullary thyroid carcinoma1 test
  • Familial melanoma1 test
  • Familial pancreatic carcinoma1 test
  • Familial prostate carcinoma2 tests
  • Familial restrictive cardiomyopathy1 test
  • Familial visceral amyloidosis, Ostertag type1 test
  • Farber lipogranulomatosis1 test
  • Floating-Harbor syndrome1 test
  • Fragile X syndrome1 test
  • Fucosidosis1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gardner syndrome2 tests
  • GARS-Associated Axonal Neuropathy1 test
  • Gaucher disease type I1 test
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
  • Generalized juvenile polyposis/juvenile polyposis coli2 tests
  • Genitopatellar syndrome1 test
  • Glycogen storage disease II, adult form1 test
  • Gm2-gangliosidosis, adult1 test
  • Gm2-gangliosidosis, juvenile1 test
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
  • Hemochromatosis type 12 tests
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemochromatosis type 51 test
  • Hereditary breast ovarian cancer syndrome4 tests
  • Hereditary diffuse gastric adenocarcinoma1 test
  • Hereditary hemochromatosis1 test
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary liability to pressure palsies3 tests
  • Hereditary sensory and autonomic neuropathy type 12 tests
  • Hereditary spastic paraplegia 71 test
  • Hirschsprung disease, susceptibility to, 11 test
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperkalemic periodic paralysis1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hypokalemic periodic paralysis1 test
  • Inborn mitochondrial myopathy1 test
  • Infantile onset spinocerebellar ataxia1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile nephropathic cystinosis1 test
  • Kabuki syndrome1 test
  • Kearns-Sayre syndrome1 test
  • Krabbe disease, atypical, due to saposin A deficiency1 test
  • Leber optic atrophy2 tests
  • Leigh syndrome1 test
  • Li-Fraumeni syndrome3 tests
  • Lynch syndrome4 tests
  • Lynch syndrome 12 tests
  • Lysinuric protein intolerance1 test
  • Lysosomal acid lipase deficiency1 test
  • Malignant tumor of prostate1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • Melanoma, cutaneous malignant, susceptibility to, 31 test
  • Melanoma-pancreatic cancer syndrome2 tests
  • MERFF syndrome1 test
  • MERRF/MELAS overlap syndrome1 test
  • Metachromatic leukodystrophy1 test
  • Mitochondrial disease1 test
  • Mitochondrial DNA deletion syndrome with progressive myopathy1 test
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial DNA depletion syndrome 11 test
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
  • Mitochondrial DNA depletion syndrome 131 test
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 31 test
  • Mitochondrial DNA depletion syndrome 4b1 test
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
  • Mitochondrial DNA depletion syndrome, myopathic form1 test
  • Mitochondrial non-syndromic sensorineural hearing loss1 test
  • Morquio syndrome1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type 11 test
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis type 71 test
  • Mucopolysaccharidosis Type I/II1 test
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-II1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-III-D1 test
  • Mucopolysaccharidosis, MPS-IV-A1 test
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Mucopolysaccharidosis, type vi, intermediate1 test
  • Mucopolysaccharidosis, type vi, mild1 test
  • Mucopolysaccharidosis, type vi, severe1 test
  • Muir-TorrĂ© syndrome2 tests
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 21 test
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b1 test
  • Multiple sulfatase deficiency1 test
  • MUTYH-related attenuated familial adenomatous polyposis2 tests
  • Myoglobinuria, recurrent1 test
  • NARP syndrome1 test
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Neoplasm of stomach2 tests
  • Nephropathic cystinosis1 test
  • Neuronal ceroid lipofuscinosis1 test
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 111 test
  • Neuronal ceroid lipofuscinosis 21 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type C1 test
  • Niemann-Pick disease, type C11 test
  • Ocular cystinosis1 test
  • Optic atrophy 31 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Pancreatic cancer, susceptibility to, 21 test
  • Pancreatic cancer, susceptibility to, 42 tests
  • Paramyotonia congenita of Von Eulenburg1 test
  • Parkinson disease, mitochondrial1 test
  • Perrault syndrome 51 test
  • Peutz-Jeghers syndrome2 tests
  • Polyposis syndrome, hereditary mixed, 11 test
  • Prader-Willi syndrome1 test
  • Primary progressive aphasia1 test
  • Progressive external ophthalmoplegia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
  • PTEN hamartoma tumor syndrome2 tests
  • Pyknodysostosis1 test
  • Retinitis pigmentosa 731 test
  • Rett syndrome2 tests
  • Salla disease1 test
  • Sandhoff disease1 test
  • Sandhoff disease, adult form1 test
  • Sandhoff disease, infantile form1 test
  • Sandhoff disease, juvenile form1 test
  • Sanfilippo syndrome1 test
  • Schindler disease, type 31 test
  • Severe congenital hypochromic anemia with ringed sideroblasts1 test
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis type 11 test
  • Sialidosis type 21 test
  • Sideroblastic anemia 21 test
  • Silver-Russell syndrome 11 test
  • Sotos syndrome1 test
  • Spinocerebellar ataxia 71 test
  • Syndromic X-linked intellectual disability Claes-Jensen type1 test
  • Tay-Sachs disease1 test
  • Tay-Sachs disease, variant AB1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Tubulointerstitial nephritis and uveitis syndrome1 test
  • Turcot syndrome4 tests
  • Williams syndrome1 test
  • X-linked sideroblastic anemia 11 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • DNA Banking
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • RNA Banking
  • Genome Wide DNA Methylation: Order Code: EpiSign

List of certifications/licenses

Certifications

  • ISO15189, Number: 731, Expiration date: 2023-10-07
  • Ontario Ministry of Health, Number: 4245, Expiration date: 2023-03-29

Participation in external programs

Standardization programs

  • Other

Data exchange Programs

  • Locus-specific Databases

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