Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

ABSTRACT:

Objective

To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy.

Methods

Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and December 2015. Initial analysis was restricted to a virtual panel of 55 genes associated with peripheral neuropathies. Patients with uninformative results underwent expanded analysis of the WES data. Data on the cost of prior investigations and assessments performed for diagnostic purposes in each patient was collected.

Results

Fifty patients with a peripheral neuropathy were recruited (median age 18 years; range 2-68 years). The median time from initial presentation to study enrol

SUBMITTER: Walsh M 

PROVIDER: S-EPMC5420808 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature