The Diagnostic Yield of Whole Genome Sequencing for Patients with Epilepsy

BACKGROUND

• Whole Genome Sequencing (WGS) is a comprehensive test that investigates a large number of genes and multiple variant types.
• WGS is increasingly being adopted as a first-tier diagnostic tool for various neurodevelopmental disorders per guidelines from American College of Medical Genetics and Genomics (ACMG).
• However, there is limited information on the utility of WGS for epilepsy disorders.
• In this study, we reviewed the diagnostic yield of WGS for patients presenting with epilepsy.