A Comprehensive Genomic Approach for Neuromuscular Diseases Gives a High Diagnostic Yield

Published on 04/16/15

Neuromuscular disease (NMD) diagnosis is complicated by the high clinical and genetic heterogeneities of the more than 200 subtypes of the disease. Our study indicates that NMD comprehensive panel testing has a 3-fold greater diagnostic yield (46%) than single gene testing (15–19%). We therefore suggest that panel testing be the preferred first-tier approach for NMD diagnosis.

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