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Just how much of a difference does it make to order exome sequencing first?

For patients with seizures, there’s a real difference between ordering exome sequencing first and starting with a multi-gene panel or chromosomal microarray (CMA).

November 1, 2024 • 2 min read

You’ve seen it in practice many times: A child with multiple seizures receives a narrow, sponsored gene panel or chromosomal microarray (CMA) — with no findings. A year goes by, and there’s still no identified cause of the child’s continued seizures.

Why exome over CMA and panels?

Real impact on treatment decisions: More than 50% of unexplained epilepsy cases likely have a genetic cause.¹ The answers provided by exome sequencing can guide more effective treatments, which can result in up to 90% seizure reduction in some cases.²

Exome finds more answers: Exome sequencing is twice as likely to lead to a diagnosis when compared to CMA. And 75% of patients had other genetic testing done prior to exome, suggesting prior tests did not resolve all clinical questions.³

Not all exomes are equal: Expert pediatric neurologists and developmental pediatricians use GeneDx’s exome test time and again. That’s because we leverage our industry-leading dataset—including nearly 700,000 clinical exomes and genomes—to find more answers for more patients.

Real impact on treatment decisions: More than 50% of unexplained epilepsy cases likely have a genetic cause.¹  The answers provided by exome sequencing can guide more effective treatments, which can result in up to 90% seizure reduction in some cases.⁴

If you’re ready to learn more, check out our Epilepsy Awareness Month webpage or request a call from one of our knowledgeable representatives.

References: 1. Sheidley BR, Malinowski J, Bergner AL, et al. Epilepsia. 2022 Feb ;63 (2):375-387. doi: 10.1111/ep i.17141. 2. Savatt JM, et al. Front Pediatr. 2021 Feb 19;9:526779. 3. Butler, 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. 4. Smith L, Malinowski J, Ceuleman S, et al. J Genet Couns. 2023 Apr;32(2):266-280. doi: 10.1002/jgc4.1646.