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.
- 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.
- 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
This page was last updated: August 13, 2013