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GTR Home > Laboratories > Medical Genetics Unit

Medical Genetics Unit

GTR Lab ID: 320036, Last updated:2021-05-14
Annual Review past due read more


Conditions and tests

  • Acrocephalosyndactyly type I1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Craniosynostosis syndrome1 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Early-onset generalized limb-onset dystonia1 test
  • Familial amyloid neuropathy1 test
  • Fragile X syndrome1 test
  • Hemochromatosis type 11 test
  • Hereditary amyloidosis1 test
  • Hereditary liability to pressure palsies1 test
  • Thrombocytopenia1 test
  • Velocardiofacial syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Balanced Chromosome Rearrangement Studies
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling
  • Identity Testing
  • Marker Chromosome Identification
  • Mutation Confirmation
  • Preimplantation Genetic Diagnosis (PGD)
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Whole Genome Sequencing

List of certifications/licenses


  • EMQN, Number: DFNB1, Expiration date: 2011-06-29
  • EMQN, Number: DNA-SEQ (Full), Expiration date: 2011-06-29
  • EMQN, Number: EGFR EQA scheme - 2011, Expiration date: 2011-06-29
  • EMQN, Number: FAP, Expiration date: 2011-06-29
  • ISO15189, Number: ES-0052/2005, Expiration date: 2014-01-13

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.