Genetic testing in epilepsy: which tests have the greatest diagnostic yield?

New study findings suggest that large panel testing and whole exome sequencing (WES) are much more effective than microarrays and single gene testing for establishing a genetic diagnosis in adults with epilepsy.

Epilepsy is known to be associated with genetic factors in about 70-80% of cases, yet it is unclear which form of testing has the highest diagnostic yield. To investigate, researchers from the Epilepsy Genetics Program at the Krembil Brain Institute and Toronto Western Hospital, Canada, performed a retrospective study of the diagnostic outcomes of epilepsy genetic tests routinely ordered for patients.

The 243 patients included in the study all had at least one microarray and one other clinical genetic test. Overall, 601 genetic tests were carried out in the study population.