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The diagnosis of neuromuscular disorders traditionally involved clinical and neurophysiological assessment, pathological evaluation of muscle and/or nerve biopsy and sequential testing of individual genes. Next generation sequencing (NGS) has revolutionised the diagnostic paradigm in genetic disorders, with the capability to capture and sequence genes, the entire exome (1% of the protein coding genome) or the entire genome.1 ,2 While this may overcome the diagnostic odyssey of sequential single gene testing and reduce the need for biopsies, it is important for clinicians to be aware of the challenges and limitations of NGS.3 It is difficult to detect structural DNA differences with whole exome sequencing (WES), including copy number variants such as intragenic deletions or duplications due to variation in depth of coverage, or the number of times a nucleotide is sequenced. While balanced translocations and …
TR and MF contributed equally.
Contributors HLT clinically examined and photographed the patient, and drafted and wrote the manuscript. HS clinically examined and photographed the patient, and critically revised and approved the final manuscript. TR critically revised and approved the final manuscript. MF clinically examined and photographed the patient, provided clinical and scientific direction for the manuscript, and drafted, reviewed and approved the final manuscript.
Funding Motor Neurone Disease Research Institute of Australia.
Competing interests None declared.
Patient consent Obtained.
Ethics approval Human Ethics Committees of South Eastern Sydney Local Health District (HREC/13/POWH/203) Australia.
Provenance and peer review Not commissioned; externally peer reviewed.
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