Hospital for Children
Divisions/Specialties
Division of Human Genetics
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: May 16, 2008.
For more information about UMHC or to make an appointment,
please call
1-800-492-5538 (patients) or 1-800-373-4111 (physicians).
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