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Genetics and Metabolism


Read a parent's letter
With more than 6,000 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:
Birth defects
Down Syndrome
Genetic disorders of all types
• Inborn metabolism errors
• Abnormal newborn screening results
• Lysosomal storage disorders
• Metabolic disorders
Neurofibromatosis
• Skeletal dysplasias
• Family counseling
• Genetic risk counseling
• Cardiac genetics
• Genetic syndromes
• Genetic testing interpretation
• Adult genetic conditions

Clinics We Offer
Cancer Genetics Clinic - The Division of Genetics and Metabolism and the Division of Oncology established the Cancer Genetics Clinic to help family members understand their personal risk of developing cancer and to learn more about the risk for their loved ones. Our mission is to identify individuals with a greater likelihood for certain types of cancer and provide early detection and treatment. Ultimately, our goal is to prevent the development of cancer or additional cancers altogether.
Down Syndrome Clinic - Children’s National Medical Center has the only dedicated Down Syndrome Clinic in the Washington, DC area. The clinic is a specialized program coordinated through the Division of Genetics and Metabolism.
Skeletal Dysplasia Clinic - For more than 25 years, the Skeletal Dysplasia Clinic has provided multidisciplinary care for infants, children, and young adults with various forms of skeletal disorders.
Noonan Spectrum Disorders Clinic - The Noonan Spectrum Disorders (NSD) Clinic was established to provide comprehensive, expert clinical care for children and adults with disorders of the Noonan Spectrum (Noonan syndrome, Cardiofaciocutaneous syndrome, Costello syndrome, and Noonan syndrome with multiple lentigines, formerly LEOPARD syndrome). As a part of the Rasopathies Program at Children’s National, the clinic focuses on the diagnosis and management of those individuals with special attention to the unique difficulties encountered in this group of conditions.

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.

You will need the following codes to help you determine your coverage:
Genetic Counselor: CPT 96040
Geneticist: Office consultation CPT 99201-99205; CPT 99241-99245

Our other services offered:
• 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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