Genetics

Dr. Carol Greene was featured in the Washington Post's Medical Mysteries column for successfully diagnosing a rare disorder in several members of the same family.

The Division of Human Genetics provides comprehensive inpatient, outpatient and laboratory genetic services to patients of all ages, including a network of statewide outreach clinics.

Learn more about Division of Human Genetics.

Services

  • Evaluation, counseling and ongoing care for patients with genetic diseases, birth defects and multiple malformation syndromes
  • State-of-the-art cytogenetic, biochemical and DNA testing.

Patient Conditions

  • Genetic disorders
  • Birth defects
  • Multiple malformation syndromes
  • Pregnancy with genetic high-risk factors
  • Suspected fetal anomalies

Comprehensive Evaluations

Special Programs

Diagnostic Laboratories

  • Biochemical genetics: comprehensive testing for inborn errors of metabolism; quantitative amino acid and organic acid analysis, mucopolysaccharide and oligosaccharide screening, assays for 18 different lysosomal enzymes, carnitine, biotinidase, enzymes and metabolites involved in galactosemia; carrier screening for Tay-Sachs and other disorders routinely offered

  • Cytogenetics: routine banding and fluorescence in situ hybridization analysis of amniotic fluid, chorionic villi, peripheral blood, bone marrow, products of conception and solid tumors

  • Molecular genetics: DNA-based testing for fragile X syndrome, cystic fibrosis, Tay-Sachs, Gaucher disease, Canavan disease, Factor V Leiden; other testing arranged on request

  • Prenatal Screening: Maternal serum multiple marker screening (AFP, estriol, and hCG) for fetal neural tube defects and fetal Down's syndrome

Services to Physicians

  • Comprehensive genetic evaluation
  • Consultation on complicated cases
  • Second opinions
  • Special treatment procedures
  • Short-term and long-term management
  • State-of-the-art genetic laboratory service
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