First-line genomic diagnosis of mitochondrial disorders

First-line genomic diagnosis of mitochondrial disorders

First-line genomic diagnosis of mitochondrial disorders, Published online: 22 May 2018; doi:10.1038/s41576-018-0022-1

Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing. There is now a strong rationale for undertaking first-line genome-wide sequencing, accelerating the speed of diagnosis and avoiding the need for expensive and invasive investigations.

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