Why the study?
Does an NGS panel of muscular dystrophy-associated genes identify molecular diagnoses in patients with suspected muscle disease?
Does an NGS panel of muscular dystrophy-associated genes identify molecular diagnoses in patients with suspected muscle disease?
An NGS panel of muscular dystrophy-associated genes provides a molecular diagnosis in approximately one-third of patients presenting with muscle weakness, rhabdomyolysis, or idiopathic hyperCKemia.
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NGS panels yield diagnoses in ~36% of neuromuscular referrals; supports expanded diagnostic use but leaves optimal implementation open pending controlled studies.
Wu et al. (2018) studied this question.
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