Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

ABSTRACT:

Objective

To investigate the effectiveness of targeted next-generation sequencing (NGS) panels in achieving a molecular diagnosis in Charcot-Marie-Tooth disease (CMT) and related disorders in a clinical setting.

Methods

We prospectively enrolled 220 patients from 2 tertiary referral centers, one in London, United Kingdom (n = 120), and one in Iowa (n = 100), in whom a targeted CMT NGS panel had been requested as a diagnostic test. PMP22 duplication/deletion was previously excluded in demyelinating cases. We reviewed the genetic and clinical data upon completion of the diagnostic process.

Results

After targeted NGS sequencing, a definite molecular diagnosis, defined as a pathogenic or likely pathogenic variant, was reached in 30% of cases (n = 67). The diagnosti

SUBMITTER: Cortese A 

PROVIDER: S-EPMC7011687 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature