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.

Ology Medical Education is a global provider of independent medical education. Its mission is to provide healthcare professionals with high-quality, trusted medical information with the aim of helping optimize patient care.

No responsibility is assumed by Ology Medical Education for any injury and/or damage to persons or property through negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, Ology Medical Education recommends that independent verification of diagnoses and drug dosages should be made. The opinions expressed do not reflect those of Ology Medical Education or the sponsor. Ology Medical Education assumes no liability for any material contained herein.