Genomic sequencing can resolve patients’ questions and inform their care
For those with epilepsy, exome testing offers a powerful way to uncover answers and inform treatment.
Start with exome.
Start with clarity.
A genetic diagnosis can finally explain epilepsy with unexplained etiology, getting pediatric patients on the right path sooner.
Featured tests
We can help you take a guideline-driven approach.
Better care starts with better answers
From treatment decisions to emotional support, genomic insights can shape every step of the care journey.
A genetic diagnosis can also unlock more personalized care and support for pediatric patients, such as connecting families to support groups and helping them search for relevant clinical trials.²
Up to 80% of patients with epilepsy got better treatment options after receiving a genetic diagnosis.1
In some cases, patients had up to 90% fewer seizures after receiving a genetic diagnosis.1
Why start with exome as a first-line test
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 picture.6
- Higher diagnostic rate
Exome provides a >2.5x higher diagnostic rate than CMA in patients with unexplained epilepsy.1 - Fewer gaps
57% of seizure-related gene variants are not included on 6 commercially available epilepsy panels.6
Connect the dots with exome testing for childhood epilepsy
Clinicians turn to exome sequencing because it can resolve genetic questions that other tests may not. This is why exome and genome 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.
It is estimated that up to 70% of people living with epilepsy could live seizure-free if properly diagnosed and treated.5 — World Health Organization
Meet Carlotta & Andrea
"Carlotta was undiagnosed for 18 months until we were finally able to access whole exome sequencing to identify the underlying cause of her issues: PIGN-CDG. While it doesn’t necessarily change her immediate prognosis, it does change what the long-term prognosis could be. We wouldn’t have options if we didn’t understand what exactly it was that we were dealing with.”—Andrea
Helpful resources
Removing cost barriers through genetic testing programs
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.
Webinar
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.
Case study
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.
The cause of their epilepsy may have always been genetic
Yesterday’s diagnosis didn’t have today’s tools. Genetic testing can bring clarity, and transform care.
Featured tests
We can help you take a guideline-driven approach.
The next step toward better care starts with the right insights
For 55% of adults with epilepsy, a genetic diagnosis shifted their course of care.²˒³
In up to 80% of epilepsy cases, a genetic diagnosis can lead to targeted treatment and management changes¹ —even into later decades of life.
Patients can experience up to 90% seizure reduction in some cases.¹
Why start with exome for adult patients
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 picture.6
- Higher diagnostic rate
Exome provides a >2.5x higher diagnostic rate than CMA in patients with unexplained conditions.1 - Fewer gaps
57% of seizure-related gene variants are not included on 6 commercially available epilepsy panels.6
Connect the dots with exome sequencing for epilepsy
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.
It is estimated that up to 70% of people living with epilepsy could live seizure-free if properly diagnosed and treated.5 — World Health Organization
Meet Hannah
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.†
Helpful resources
GeneDx Infinity™
Infinity is powered by data from over 2.5 million tests – informed by nearly 1 million exomes and genomes and more than 7 million phenotypic datapoints – to help you uncover answers faster and fuel the discovery of life-changing treatments.
How to order
Ordering with GeneDx is easy, and our team supports you at every step. Visit our ordering portal to choose the right test and get started.
Support
Our team of clinical and genetic experts are here throughout the process—from education and guidance to results interpretation and next steps.