Key Takeaways
- Many cases of unexplained epilepsy have a genetic cause that can be identified through genomic testing.
- Exome sequencing is more likely to provide a diagnosis than chromosomal microarray or narrow gene panels.
- Earlier genetic diagnosis can guide treatment decisions and improve clinical management.
- Clinical guidelines increasingly recommend exome sequencing as a first-line test for children with epilepsy.
The Diagnostic Challenge for Patients With Seizures
Clinicians see it often in practice.
A child experiencing seizures receives a narrow gene panel or chromosomal microarray (CMA). The results come back negative, and the search for answers continues.
Months—or even years—may pass before broader genomic testing is considered.
For many families, this sequence of testing can extend the diagnostic odyssey—the long journey many rare disease patients experience before receiving a clear diagnosis.
Families who want to better understand their options for genetic testing for epilepsy can learn more about how genomic testing may help identify the cause of seizures.
https://www.genedx.com/get-exome-epilepsy/
Why Exome Sequencing Can Make a Difference
Research shows that more than half of unexplained epilepsy cases likely have a genetic cause.¹
Exome sequencing evaluates thousands of genes simultaneously, making it more likely to identify the underlying cause of seizures compared with narrower testing approaches.
The insights provided by exome sequencing can influence treatment decisions and, in some cases, lead to significant reductions in seizure frequency.²
Identifying the genetic cause can help families and clinicians move toward more personalized care and treatment planning.
A genetic diagnosis can directly change treatment decisions for children with epilepsy.
Exome Sequencing Finds More Answers Than Traditional Tests
Studies have shown that exome sequencing is about twice as likely to provide a diagnosis compared with chromosomal microarray.
In one analysis, 75% of patients who eventually received an exome test had previously undergone other genetic tests, suggesting earlier testing could have shortened the path to diagnosis.³
When clinicians begin with broader genomic testing, patients may reach answers sooner and avoid multiple rounds of inconclusive testing.
Clinicians can also review genetic testing considerations for epilepsy patients when determining when genomic testing may be appropriate.
Clinical Guidelines Support Exome as a First-Line Test
Professional organizations increasingly recommend exome sequencing as an early diagnostic tool for epilepsy.
The National Society of Genetic Counselors (NSGC) recommends exome sequencing as a first-line test for children with epilepsy. This approach is also endorsed by the American Epilepsy Society.⁴
As genomic testing becomes more widely used, clinicians are recognizing that starting with exome sequencing can help identify genetic causes of seizures earlier in the diagnostic process.
