Children's Hospital
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
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
This page was last updated on: May 10, 2011.
For more information about UMCH or to make an appointment,
please call 1-800-492-5538 (patients) or 1-800-373-4111 (physicians).
