Utility and yield of genetic testing leading to a definitive neuromuscular or neuropathic diagnosis at a rural outpatient neurology clinic affiliated with a university health center in West Virginia over 4 years.

Abstract

Clinicians are increasingly relying on genetic testing to pinpoint definite diagnoses. A more general diagnosis of neuropathy or neuromuscular disease like myopathy can be narrowed down substantially using genetic testing. Because carrier status is of utmost importance in reproductive matters, pathogenic results can prognosticate about future course of the illness and help plan ahead for treatment and social supports. Given the expense of genetic testing, it becomes a cost benefit ratio assessment whether it is worthwhile to collect genetic samples. The purpose of the study was to determine the likelihood of obtaining a conclusive confirmatory diagnosis through genetic testing (measured as % of positive results obtained out of all the submitted samples).