A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

ABSTRACT:

Purpose

Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation.

Methods

We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin. In a parallel study, all patients received both the standard diagnostic workup (e.g., cerebral imaging, muscle biopsies or lumbar punctures, and sequential gene-by-gene-based testing) and WES simultaneou

SUBMITTER: Vissers LELM 

PROVIDER: S-EPMC5589982 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature