Evidence-based Guideline: Diagnosis and Treatment of Limb ...

2014-10-12 · In patients with suspected muscular dystrophy in whom initial genetic testing, muscle biopsy, and dried blood spot test for Pompe disease do not provide a diagnosis, clinicians may obtain genetic consultation or perform parallel sequencing of targeted exomes, whole-exome sequencing, whole-genome screening, or next-generation sequencing to identify the genetic abnormality (Level C). ................
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