Genetic Test Evaluation

understanding how genetic tests impact patient management

Whole Exome Sequencing for Neurological Conditions in Pediatric Populations

July 28, 2016

With the recent advances in whole exome sequencing (WES) technologies, there has been considerable interest in its clinical application. This report assesses the evidence for the use of WES for neurological conditions in pediatric populations after standard diagnostic and genetic tests failed to provide a definitive diagnosis. The goal of the report is to assess the clinical utility of WES, including the presumed diagnostic rate and how a diagnosis changes patient management.