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At our Rare Disease Institute, Children's National experts offer advice on a variety of topics relating to the genetics and metabolism of our patients and families. Additional resources below may also be helpful for families to review:

Genetics Home Reference

Presented by the U.S. National Library of Medicine, part of the National Institutes of Health

On this easy-to-navigate site, readers will learn about the effects of genetic variation on human health. Topics cover the signs and symptoms, causes and inheritance of more than 1,200 health conditions with a genetic basis. You'll also find information on gene activity, chromosomes and DNA as well as basic information about genetics.

View the Genetics Home Reference website
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Educational Videos


Our video series explains what to expect at your genetics visit and covers newborn screening, genetic testing and a variety of other topics related to genetics.

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Genetic Counseling and Family Services

Our genetic counseling team is committed to providing compassionate support for patients and their families. We provide genetic counseling services for families with a known genetic disorder and recurrence risk counseling for parents of a child with an inherited condition.

Our genetic counselors provide information on family planning options, explain the testing options available to you and help coordinate referrals for related specialists at Children’s National. We see patients through self-referral or with referral from a primary care physician or another subspecialty clinic within Children’s National.

We also provide in-depth counseling for carrier screening results.

Children’s National also provides educational outreach to community physicians, schools and families through lectures, seminars and parent support groups.

Genetic testing is not currently covered by all healthcare plans. As our team works with your family, we will discuss testing options and attempt to optimize your testing plan in line with your insurance guidelines. Contacting your insurance before your visit to determine their testing guidelines has been helpful for some families to direct our conversations.

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 bring your referral to your appointment. If you are unsure if you need a referral, please contact your primary care physician or health insurance provider.