New AAP Guidance: Exome and genome sequencing recommended as first-line tests. Learn more
For those with epilepsy, exome testing offers a powerful way to uncover answers and inform treatment.
A genetic diagnosis can help resolve unexplained epilepsy to get pediatric patients on the right path sooner.
From treatment decisions to emotional support, genomic insights can shape every step of the care journey.
Clinicians turn to exome sequencing because it can resolve genetic questions that other tests may not. This is why exome sequencing is recommended as a first-line test for individuals with unexplained epilepsy by the National Society of Genetic Counselors2, and endorsed by the American Epilepsy Society.
— World Health Organization
In a study of 22,616 individuals with seizures, 75% of patients who received an exome test had prior genetic testing, suggesting that earlier approaches like chromosomal microarray (CMA) or panel tests didn’t provide the full picture4.
Higher diagnostic rate
Exome provides a >2.5x higher diagnostic rate than CMA in patients with unexplained conditions1.
Less gaps
57% of seizure-related gene variants are not included on 6 commercially available epilepsy panels4.
Exome sequencing helped Carlotta’s family reclaim power and normalcy in their lives.
Many insurance companies recognize the importance of exome sequencing for patients with unexplained epilepsy, and their coverage policies reflect that understanding. Our Epilepsy Partnership Program provides even greater access to exome testing for eligible patients.
Neurogenetics and rare disease experts recommend ordering exome for patients with unexplained epilepsy. Join Dr. Isabella Herman from Boys Town National Research Hospital as she explains the importance of exome sequencing in this webinar.
Claire 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 within weeks instead of almost two years for Claire’s family.† Download the case study to learn more.
We can help you take a guideline-driven approach. Let’s start with exome.
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. World Health Organization overview on epilepsy: Home/Health Topics/Epilepsy. Accessed on October 23, 2024. 4. 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 https://www.who.int/health-topics/epilepsy 6.
†Case study is based on GeneDx patient testing, with all identifying information removed.
Yesterday’s diagnosis didn’t have today’s tools. Genetic testing can bring clarity, and transform care.
For 55% of adults with epilepsy, a genetic diagnosis shifted their course of care2, 3.
Clinicians turn to exome sequencing for their adult patients with unexplained epilepsy because it’s built to uncover answers other tests miss. This is why exome sequencing is recommended as a first-line test for individuals with unexplained epilepsy by the National Society of Genetic Counselors4, and endorsed by the American Epilepsy Society.
— World Health Organization
In a study of 22,616 individuals with seizures, 75% of patients who received an exome test had prior genetic testing, suggesting that earlier approaches like chromosomal microarray (CMA) or panel tests didn’t provide the full picture6.
Higher diagnostic rate
Exome provides a >2.5x higher diagnostic rate than CMA in patients with unexplained conditions1.
Less gaps
57% of seizure-related gene variants are not included on 6 commercially available epilepsy panels6.
Ethan experienced his first grand mal seizure and was admitted to the hospital at 15 months old. It was the start of a diagnostic odyssey that continued into adulthood, until he finally received an exome test at 19 years old that provided clarity to guide his care.†
Hannah’s seizures began in infancy and persisted into adulthood, despite getting an epilepsy diagnosis. Exome sequencing at 25 years old revealed a de novo pathogenic loss-of-function variant that made her medications contraindicated. Earlier testing could have changed her treatment path—and potentially prevented years of ineffective care.†
We can help you take a guideline-driven approach. Let’s start with exome.
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. Vakrinou A, Pagni S, Mills J, et al. Brain Communications, Volume 7, Issue 1, 2025 3. McKnight D, Bristow SL, Truty RM, et al. Neurol Genet. 2021 Dec 16;8(1):e650 4. 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. 5. World Health Organization overview on epilepsy: Home/Health Topics/Epilepsy. Accessed on October 23, 2024. 6. 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 https://www.who.int/health-topics/epilepsy 6.
†Case study is based on GeneDx patient testing, with all identifying information removed.
