Genetics and Metabolism
Learn more about the Sheikh Zayed Institute.
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With more than 3,500 visits annually, the Division of Genetics and Metabolism at Children's National Medical Center is one of the largest genetics programs on the eastern seaboard. The division is a hub for coordinated management of patients with genetic or metabolic disorders or complex birth defects. The division offers comprehensive genetic services in a variety of settings to meet the needs of families and healthcare professionals in the region and beyond, interfacing with a variety of subspecialty providers and the patients’ primary care physician.
Services include:
- Diagnosis and management of children and adults with birth defects and genetic disorders
- Continuity of care through multi-specialty clinics coordinated by the division including neurofibromatosis, skeletal dysplasias, Down syndrome, and inborn errors of metabolism.
- Through the Center for Prenatal Evaluation the division provides prenatal services for at-risk pregnancies with transition to coordinated management of the newborn
- Genetic counseling for individuals and families with a history or suspected history of a genetic disorder
- Carrier screening and genetic counseling for high-risk ethnic groups
- Diagnosis and management of children and adults with inborn errors of metabolism including those requiring special metabolic diets.
- Comprehensive care for individuals with lysosomal storage disorders including enzyme replacement, pharmacologic chaperone, and substrate reduction therapies
- 24 hour emergency consultations at area hospitals for newborns with birth defects or suspected genetic or metabolic disorders
- Emergency consultation and definitive testing for newborns with abnormal state newborn screens (PKU test).
- Educational outreach to community physicians, schools, and families through lectures, seminars and parent support groups
- Genetic outreach clinics at health departments in Calvert, Charles, and St. Mary’s counties
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