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 aboutDivision of Human Genetics.
Services | Patient Conditions | Comprehensive Evaluations | Special Programs | Diagnostic Laboratories | Services to Physicians
Through their Genetics Services, The University of Maryland Childrens Hospital offers a number of resources for patients seeking genetic evaluation, genetic counseling and testing.
The Childrens Hospital has biochemical genetics and cytogenetics laboratory testing on-site, as well as close relationships with DNA and other diagnostic labs around the country.
Genetic disorders
Birth defects
Multiple malformation syndromes
Pregnancy with genetic high-risk factors
Suspected fetal anomalies
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-Sachsand 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
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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Division of Human Genetics | University of Maryland Medical ...
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