Mitochondrial Disease: Testing and Referral Pathways

The diagnostic work-up for suspected mitochondrial disease (mito) is a step-wise procedure, with GPs playing a key role. Much of the work is done by an initial comprehensive history of the individual’s symptoms, the family history, and a full systems review. Clinical investigations are commenced by the GP to complete the systems review and confirm any symptomatology. Join metabolic physician and clinical geneticist Prof David Coman as he discusses the various diagnostic tests, organ or multi-system assessments available in primary care.