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.

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.

Take a guideline-driven approach.
Start with exome.

*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.