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A genetic condition may be hiding behind epilepsy.

Exome sequencing can offer comprehensive answers.

A genetic diagnosis for epilepsy can lead to better patient outcomes.

Did you know that ~50% of unexplained epilepsy cases have a genetic cause1—and that identifying that root cause can be as simple as a cheek swab?

A genetic diagnosis is important because it can guide clinical decisions for patients with epilepsy:1

  • In up to 80% of cases, a genetic diagnosis has implications for treatment and management.
  • Patients can experience up to 90% seizure reduction in some cases.

Exome: Recommended by guidelines as a first-line test

Exome sequencing is recommended as a first-line test for individuals with unexplained epilepsy by the:2

  • National Society of Genetic Counselors
  • Endorsed by the American Epilepsy Society

Exome sequencing: More likely to shorten the diagnostic odyssey and find answers.

Starting with exome sequencing is more likely to deliver a genetic diagnosis than multi-gene panels. That’s because 57% of seizure-related genes are not included on many commercially available epilepsy panels3—but are covered by GeneDx exome sequencing. What’s more, exome sequencing is twice as likely to lead to a diagnosis when compared to chromosomal microarray (CMA).1

In other words, the traditional tests only look at a narrow slice of the possible genetic causes for epilepsy.  It’s why more doctors are turning to GeneDx exome sequencing for answers.

It is estimated that up to 70% of people living with epilepsy could live seizure-free if properly diagnosed and treated.4

— World Health Organization

Implications for clinical practice

In a study of 22,616 individuals with seizures:3

75% of patients had genetic testing prior to exome, suggesting that previous tests did not resolve all clinical questions.

36% of patients with diagnostic findings via exome had variants in genes not included on epilepsy panels.

Take a guideline-driven approach.
Start with exome.

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Yet all the statistics in the world can’t bring home the importance of an exome test like a parent can.

For Carlotta’s family, early
intervention meant everything.

Carlotta's story

Ben’s Labrune syndrome diagnosis improved his treatment.

“Even though the prognosis was difficult, it came with an overwhelming sense of relief. Before our results, we had no idea what the future would hold. Now we know.“
Ben's story

Learn why an expert on neurogenetics and rare disease recommends ordering exome for patients.

Join Dr. Isabella Herman (Boys Town National Research Hospital) as she explains the importance of exome sequencing at this webinar.

Watch webinar

CASE STUDY:

Putting exome testing first puts patients first.

Claire initially began experiencing seizures at the age of 5 months; her parents also noticed a delay in her development. Ordering GeneDx exome as a first-line test could have meant answers in just 2 months. Yet ordering stepwise testing meant it instead took almost two years.†

Download case study

Helping to remove cost as a barrier to exome testing

Many insurance companies recognize the importance of exome sequencing for patients with epilepsy, and their coverage policies reflect that understanding.

In addition, GeneDx’s Epilepsy Partnership Program provides even greater access to exome testing for eligible patients by creating an option if their health insurance company denies their claim or if they are uninsured.

Find answers with GeneDx

Every day, GeneDx helps patients with seizures find the root cause. With over 750,000 clinical exomes and genomes sequenced, there’s a reason GeneDx is the go-to lab when providers need genetic diagnoses. Our database is unmatched.

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†Case study is based on GeneDx patient testing, with all identifying information removed.

References: 1. Sheidley BR, Malinowski J, Bergner AL, et al. Genetic testing for the epilepsies: A systematic review. Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. 2. Smith L, Malinowski J, Ceuleman S, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023 Apr;32(2):266-280. doi: 10.1002/jgc4.1646. 3. Butler L, et al. Exome-based testing for patients with seizures: Advantages over panel-based testing. Poster presented at American Epilepsy Society Annual Meeting; December 2, 2023; Orlando, FL. 4. World Health Organization overview on epilepsy: Home/Health Topics/Epilepsy. Accessed on October 23, 2024. https://www.who.int/health-topics/epilepsy