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This Epilepsy Awareness Month, put patients first by putting exome first.

50% of unexplained epilepsy cases have a genetic cause.1 Find a genetic diagnosis with GeneDx exome sequencing.

A genetic condition may be hiding behind epilepsy

Identifying the root cause of a child’s unexplained seizures 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 National Society of Genetic Counselors and endorsed by the American Epilepsy Society.2

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.  Today, more doctors are turning to GeneDx exome sequencing for answers.

According to the World Health Organization, “It is estimated that up to 70% of people living with epilepsy could live seizure-free if properly diagnosed and treated.”4

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

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 a few months. Yet ordering stepwise testing meant it instead took almost two years.†

Download case study

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

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

Watch webinar

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.

Take a guideline-driven approach. Start with exome.

Every day, GeneDx helps patients with seizures find the root cause. With over 700,000 clinical exomes and genomes sequenced, there’s a reason GeneDx is the go-to lab when providers need diagnoses for children with epilepsy.

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