Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

ABSTRACT:

Objective

To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).

Methods

We performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted and broad diagnostic gene lists were identified. Prior diagnostic tests were extracted from the patient's medical record to evaluate the use of exome sequencing in the context of their prior diagnostic workup.

Results

The overall diagnostic yield of exome sequencing in our cohort was 12.9%, with one or more pathogenic or likely pathogenic variants identified in a causative gene associated with the patient's disorder. Targeted gene lists had the same diagnostic yield as a broad

SUBMITTER: Haskell GT 

PROVIDER: S-EPMC5798313 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature