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Understanding exome and genome testing for your child

When standard tests and treatments don’t provide answers, genetic testing may help uncover them.

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Exome and genome testing offer the most comprehensive view of your genetic information

With the ability to look at ~20,000 genes, these tests give your healthcare provider a broader look at potential causes of health conditions. This could help you and your doctor to:

  • Diagnose a condition.
  • Determine how to best manage or treat it.
  • Know what to expect for the future.
  • Connect with resources and others facing similar challenges.

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Are you a healthcare provider? Learn more about clinical whole exome sequencing and whole genome sequencing for providers.

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Exome vs. genome testing: What's the difference?

What is exome testing?

Looks for genetic changes in the portion of your DNA that tells your body how to make proteins. The majority of genetic conditions are caused by changes that can be identified with exome testing.

What is genome testing?

Looks for genetic changes across all of your DNA to find changes that may explain a health condition. By examining your entire genetic code, genome testing gives the most detailed picture of your genetic information.

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Recommended by experts as the first step towards answers

  • The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome as a first-tier test for individuals with developmental delay, intellectual disability, and congenital anomalies.
  • The National Society of Genetic Counselors (NSGC) recommends exome or genome testing for all individuals with unexplained epilepsy. This guideline is endorsed by the American Epilepsy Society (AES).
  • The American Academy of Pediatrics (AAP) recommends ordering exome or genome testing as a first-line test for children with global developmental delays and intellectual disabilities.
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Is genetic testing right for your child

Is your child experiencing any symptoms on this checklist? If so, consider talking with their healthcare provider about exome or genome testing.

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Real families. Real answers.

Families across the country have found clarity with GeneDx, ending years of uncertainty and opening doors to better care.

Meet Carlotta

“My advice to parents would be to try to get that information and push for exome sequencing as early as possible because the more information you have earlier, the more you’re potentially able to do and help your child’s long-term outcome.”—Andrea, Carlotta's mother

Meet Estella

“My youngest child, Estella, was diagnosed at eight months old with an ultra-rare neurological disease called alternating hemiplegia of childhood. The power of a genetic diagnosis brought more than answers to my family; it brought a sliver of hope and potential for the future.”—Lacey

Common questions

Get answers to questions about genetic testing, its benefits, and more.

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Science that serves people

We’re scientists, but we’re also parents, siblings, and caregivers who understand how powerful an answer can be.