To ensure that a patient’s test is billed to their 2024 health benefits, testing must be started before the end of the year. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received before the end of the year, please contact us at support@genedx.com to determine how to proceed.

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Exome sequencing for epilepsy

Take a guideline-driven approach. Start with exome.

For patients with epilepsy, a genetic diagnosis can guide clinical decisions.1

  • Up to 80% of cases have implications for treatment and management.
  • Patients can experience up to 90% seizure reduction in some cases.

Recommended by clinical guidelines

Exome 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

Exome testing is more likely to find a genetic diagnosis

For patients with epilepsy, the diagnostic rate is significantly higher with exome than it is with multigene panels.3

57% of seizure-related genes are not included on many commercially available epilepsy panels.3

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.

Meet Claire*

Claire, a 6-month-old female, initially began experiencing frequent seizures at the age of 5 months. Her parents also noticed a delay in her development over time. She was referred to a pediatric neurologist.
See Claire’s journey Right arrow

With stepwise testing, Claire’s journey to a genetic diagnosis took almost 2 years.

6 months old
Initial testing with an EEG showed multifocal epilepsy, while the brain MRI showed no abnormalities. Claire’s parents requested genetic testing and her pediatric neurologist ordered a narrow, sponsored NGS seizure panel with ~300 genes. There were no significant findings.
19 months old
After being followed for more than a year, Claire’s family was desperate to have a reason for her symptoms and were planning to have more children. They requested a referral to a geneticist.
23 months old
After waiting 4 months for an appointment with a geneticist, Claire was offered whole exome sequencing.
2 years old
The exome test delivered results in 6 weeks that ended the diagnostic odyssey for Claire and her family. Results showed pathogenic variants in NAPB, causing autosomal recessive early-onset epileptic encephalopathy.

Claire’s journey could have been 2 months.

6 Months Old
Following society guidelines, Claire’s doctor ordered exome right away
8 Months Old
The exome delivered results in 6 weeks, enabling a specific diagnosis and effective treatment.

Take a guideline-driven approach.
Start with exome.

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*Fictionalized case study for illustrative purposes only

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.