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GTR Home > Laboratories > Molecular Genetics and Cytogenetics, Clinical Laboratory Service

Molecular Genetics and Cytogenetics, Clinical Laboratory Service

GTR Lab ID: 320149, Last updated:2023-07-28


Conditions and tests

  • 17q11.2 microduplication syndrome1 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • 7q11.23 microduplication syndrome1 test
  • Abacavir hypersensitivity1 test
  • Abnormality of mitochondrial metabolism1 test
  • Achondroplasia1 test
  • Acute lymphoid leukemia2 tests
  • Alpha-1-antitrypsin deficiency1 test
  • Ambiguous genitalia1 test
  • Angelman syndrome2 tests
  • Ankylosing spondylitis1 test
  • Autism spectrum disorder1 test
  • Batten-Turner congenital myopathy1 test
  • Becker muscular dystrophy1 test
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
  • Celiac disease1 test
  • Charcot-Marie-Tooth disease1 test
  • Chromosome 17q21.31 duplication syndrome1 test
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 22q11.2 deletion syndrome, distal2 tests
  • Chromosome 22q11.2 microduplication syndrome1 test
  • Chromosome 2p16.1-p15 deletion syndrome1 test
  • Chromosome 2q23.1 deletion syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chromosome 3q29 microdeletion syndrome1 test
  • Chromosome 3q29 microduplication syndrome1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Congenital adrenal hyperplasia1 test
  • Congenital chromosomal disease4 tests
  • Costello syndrome1 test
  • Cystic fibrosis1 test
  • Developmental delay1 test
  • Distal monosomy 10p1 test
  • Duchenne muscular dystrophy1 test
  • Fabry disease1 test
  • Factor XII deficiency disease1 test
  • Familial idiopathic steroid-resistant nephrotic syndrome1 test
  • Fatty liver disease, nonalcoholic, susceptibility to, 21 test
  • Fragile X syndrome1 test
  • Gaucher disease1 test
  • Gilbert syndrome1 test
  • Glucocorticoid deficiency 11 test
  • Glucocorticoid-remediable aldosteronism1 test
  • Hemophilia1 test
  • Hereditary diffuse gastric adenocarcinoma1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary hemochromatosis1 test
  • Hereditary nonpolyposis colon cancer2 tests
  • Hypochondroplasia1 test
  • Intellectual disability1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Langer-Giedion syndrome1 test
  • Leber optic atrophy1 test
  • LEOPARD syndrome 11 test
  • Leri-Weill dyschondrosteosis2 tests
  • Lissencephaly due to LIS1 mutation1 test
  • Male infertility1 test
  • Maturity-onset diabetes of the young type 21 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • MERFF syndrome1 test
  • Miller Dieker syndrome1 test
  • Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
  • Mitochondrial non-syndromic sensorineural hearing loss1 test
  • Monosomy 9q22.31 test
  • Muenke syndrome1 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 21 test
  • Nonpersistence of intestinal lactase1 test
  • Noonan syndrome 12 tests
  • Obesity1 test
  • Phelan-McDermid syndrome1 test
  • Platelet-type bleeding disorder 111 test
  • Potocki-Lupski syndrome1 test
  • Prader-Willi syndrome2 tests
  • Rett syndrome2 tests
  • Rubinstein-Taybi syndrome1 test
  • Sensorineural hearing loss disorder1 test
  • SIN3A-related intellectual disability syndrome due to a point mutation1 test
  • Smith-Magenis syndrome1 test
  • Sotos syndrome1 test
  • Spinal muscular atrophy1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Syndromic X-linked intellectual disability Lubs type1 test
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Identity Testing

List of certifications/licenses


  • Estándar de acreditación para Prestadores Institucionales de Ate, Number: 280, Expiration date: 2020-03-01
  • Nch-ISO 15189-2012, Number: 0102, Expiration date: 2013-12-31

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.