Figure 5.

Diagnostic guide to interpreting enzymology and oxygraphy results in the absence of a definitive genetic result. Next generation sequencing or targeted genetic mitochondrial panels can provide a definitive diagnosis of mitochondrial disease and should alleviate the need for further biochemical testing. In cases of non-definitive diagnostic results, biochemical testing is required. In this regard, oxygraphy and enzymology would ideally be deployed synergistically for the optimal chance of detecting dysfunction in fibroblasts, and for the identification of the type of underlying defect.