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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.