Hospital for Children

Divisions/Specialties

Division of Human 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.

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

Patients with suspected chromosome abnormalities or malformations
Patients with a family history of suspected genetic disorder
Patients with suspected inborn errors of metabolism

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

This page was last updated on: September 24, 2009.

For more information about UMHC or to make an appointment, please call
1-800-492-5538 (patients) or 1-800-373-4111 (physicians).