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GTR Home > Laboratories > Genetics Service Unit

Genetics Service Unit

GTR Lab ID: 506786, Last updated:2023-10-30


Conditions and tests

  • 11p partial monosomy syndrome1 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • 7q11.23 microduplication syndrome1 test
  • Achondroplasia1 test
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Angelman syndrome2 tests
  • Autosomal recessive nonsyndromic hearing loss 1A1 test
  • Azorean disease2 tests
  • beta Thalassemia4 tests
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 22q11.2 microduplication syndrome1 test
  • Complete trisomy 21 syndrome1 test
  • Congenital prothrombin deficiency1 test
  • Cystic fibrosis2 tests
  • DiGeorge syndrome1 test
  • Duchenne / Becker Muscular Dystrophy1 test
  • Duchenne muscular dystrophy1 test
  • Fragile X syndrome1 test
  • Friedreich ataxia 11 test
  • Huntington disease2 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Langer-Giedion syndrome1 test
  • Lissencephaly due to LIS1 mutation1 test
  • Miller Dieker syndrome1 test
  • Nondisjunction4 tests
  • Phelan-McDermid syndrome1 test
  • Potocki-Lupski syndrome1 test
  • Prader-Willi syndrome2 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations1 test
  • Saethre-Chotzen syndrome1 test
  • Sickle cell disease and related diseases1 test
  • Smith-Magenis syndrome1 test
  • Sotos syndrome1 test
  • Spinocerebellar ataxia 72 tests
  • Spinocerebellar ataxia type 14 tests
  • Spinocerebellar ataxia type 22 tests
  • Steinert myotonic dystrophy syndrome1 test
  • Thiopurine S-methyltransferase deficiency1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Werdnig-Hoffmann disease2 tests
  • Williams syndrome1 test
  • Wilson disease1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously, comments

List of certifications/licenses


  • EMQN, Number: Certificate of Participation for DNA Sequencing - Sanger (Full), Expiration date: 2023-12-31

Participation in external programs

Standardization programs

  • Other

Data exchange Programs

  • Other

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.