Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

ABSTRACT:

Background

Multigene panel sequencing (MGPS) is the first-line option in diagnostic testing for genetically heterogeneous but clinically similar conditions, such as neuromuscular disorders (NMDs). In this study, we aimed to assess the utility of comprehensive NMD MGPS and the need for updated panels.

Methods

All patients were analyzed by either of two versions of the NMD MGPS and by chromosomal microarray and karyotype testing. Four patients with negative NMD MGPS results underwent whole exome sequencing.

Results

In total, 91 patients were enrolled, and a genetic diagnosis was made in 36 (39.6%); of these, 33 were diagnosed by the comprehensive NMD MGPS, two were confirmed by chromosomal microarray, and one was diagnosed by whole exome sequencing. For MGPS, the diagno

SUBMITTER: Park J 

PROVIDER: S-EPMC6785438 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature