Genetics and Metabolism
With more than 4,000 visits annually and 12 physicians, Children’s National is now the largest clinical genetics program in the United States.
Our division coordinates the multidisciplinary care of children with genetic and metabolic disorders or complex birth defects, within the division and in collaboration with primary care physicians and specialists from other divisions at Children’s National.
The division’s team of world-renowned medical experts, nutritionists, and genetic counselors care for your child’s physical needs, while our social workers, child-life specialists, and pastoral-care staff offer care for your child’s and your family’s emotional, spiritual, and mental health.
Conditions we care for include:
Genetic Counseling and Family Services
The division’s team of world-renowned medical experts offers many related support services in addition to clinical care – including genetic counselors, nutritionists, social workers, child life specialists, and pastoral care staff – to ensure the medical and emotional needs of each family are met.
Genetic counselors are available for parents as they plan subsequent pregnancies and for guidance, especially for rare inborn errors of metabolism.
**NOTICE** Billing description of our services
You will be seen by both a geneticist and a genetic counselor, both of whom will submit a bill to your insurance provider. If you have health insurance that requires a referral and/or authorization for Geneticist or Genetic Counseling services, please have the referral faxed to our clinic at (202)476-2390. If you are unsure if you need a referral, please contact your primary care physician or health insurance.
• Diagnosis and management of children and adults with birth defects and genetic disorders
• NEW, telemedicine consult program to regional nurseries and physicians
• Continuity of care through multidisciplinary clinics, including neurofibromatosis, skeletal dysplasias, Down syndrome, and inborn errors of metabolism
• Prenatal services for at-risk pregnancies with transition to coordinated management of the newborn, in conjunction with the Division of Fetal and Transitional Medicine
• Genetic counseling for individuals and families with a history or suspected history of a genetic disorder
• Carrier screening and genetic counseling for high-risk groups
• Diagnosis and management of children and adults with inborn errors of metabolism including those requiring special metabolic diet
• Comprehensive care for individuals with lysosomal storage disorders including enzyme replacement, pharmacologic chaperone, and substrate reduction therapies
• 24-hour emergency consultations and telemedicine services at area hospitals for newborns with birth defects or suspected genetic or metabolic disorder
• Emergency consultation and definitive testing for newborns with abnormal state newborn screens (PKU test)
Children’s National also provides educational outreach to community physicians, schools, and families through lectures, seminars, and parent support groups.
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- Departments & Programs - Children's National Medical Center