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. Our team of medical geneticists, including physicians, laboratory specialists and genetic counselors, provides a full range of genetic services to patients of all ages, their families and health care providers. 

Services are available to patients and families when a genetic cause or contribution to medical or neurodevelopmental problems is known or suspected, including inborn errors of metabolism, chromosomal disorders, genetic syndromes and genetic contribution to common/complex disease that may present at any age. We provide genetic diagnostic evaluation, clinical monitoring, treatment and management, and genetic counseling in both the inpatient and outpatient settings. Board-certified clinical geneticists and laboratory geneticists are on call at all times.

Make an Appointment | Physicians and Staff 

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

Contact Us 

Division of Human Genetics
University of Maryland School of Medicine
655 W. Baltimore Street, Room 7-037
Baltimore, MD 21201
410-706-3480 (academic office) 410-706-6105 (fax)
410-328-3335 (clinical program) 410-328-5484 (fax)

Appointments: 410-328-6749
genetics@peds.umaryland.edu

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