The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.

ABSTRACT: With the increasing use of genetic testing in pediatric epilepsy, it is important to describe the diagnostic outcomes as they relate to clinical care. The goal of this study was to assess the diagnostic yield and impact on patient care of genetic epilepsy panel testing. We conducted a retrospective chart review of patients at the Children's Hospital of Eastern Ontario (CHEO) who had genetic testing between the years of 2013-2020. We identified 227 patients that met criteria for inclusion. The majority of patients had their testing performed as "out-of-province" tests since province-based testing during this period was limited. The diagnostic yield for multi-gene epilepsy panel testing was 17% (39/227) and consistent with the literature. Variants of unknown significance (VUS) were reported

SUBMITTER: Leduc-Pessah H 

PROVIDER: S-EPMC9141259 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature