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.

Learn more about Division of Human Genetics.

Services | Patient Conditions | Comprehensive Evaluations | Special Programs | Diagnostic Laboratories | Services to Physicians


Services

Through their Genetics Services, The University of Maryland Children’s Hospital offers a number of resources for patients seeking genetic evaluation, genetic counseling and testing. 

The Children’s Hospital has biochemical genetics and cytogenetics laboratory testing on-site, as well as close relationships with DNA and other diagnostic labs around the country.

Patient Conditions

  • Genetic disorders

  • Birth defects

  • Multiple malformation syndromes

  • Pregnancy with genetic high-risk factors

  • Suspected fetal anomalies

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

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