To ensure that a patient’s test is billed to their 2024 health benefits, testing must be started before the end of the year. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received before the end of the year, please contact us at support@genedx.com to determine how to proceed.

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.