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Figure 2. A proposed diagnostic approach for mitochondrial disease
the genetic diagnosis of mtDNA deletion syndromes, where less invasive sources (blood leukocytes/
uroepithelium) have been unrevealing, and for consideration where there is substantial uncertainty
regarding the underlying aetiology that warrants further evaluation before proceeding further toward
definitive diagnosis. However, it should be noted that in the latter context, WES has demonstrated utility
in patients with a lower pre-sequencing likelihood of mitochondrial disease - the “possible” rather than
“probable” group - as it can identify coding variants causing mitochondrial disease and monogenic
