Diagnostic Outcome of Genetic Testing for Neuromuscular Disorders in a Tertiary Center.

Abstract: Genetic testing is an effective and reliable modality in clinical neuromuscular diagnosis. The recent developments in testing methods and increasing reliance on genetic testing in clinical practice require more studies to examine the benefits and advantages of such tests. We examined the results of single-gene sequencing/repeat analysis, panels, and whole-genome sequencing (WES) of 514 tests of 393 patients. All patients were suspected of a neuromuscular disorder and the samples were either WBC or muscle tissue. 28.60% (n.147) of the tests were positive while 23.74% (n.122) were VUS. In single-gene sequencing/repeat analysis, 43.08% were positive, in panels, 23.17% were positive, while 30.00% were positive in WES. Our results showed consistency with current studies and improvement of the utility of genetic testing. Although some obstacles are identified, providing statistical data can support more usage and popularity of genetic testing among physicians and patients.