Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy


Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and December 2015. Fifty patients with a peripheral neuropathy were recruited. This study provides evidence that WES has a high diagnostic utility and is cost effective in patients with a peripheral neuropathy. Expanded analysis of WES data significantly improves the diagnostic yield in patients in whom a diagnosis is not found on the initial targeted analysis. This is primarily due to diagnosis of conditions caused by newly discovered genes and the resolution of complex and atypical phenotypes.

Annals of Clinical and Translational Neurology