mitochondrial

Linda Hasadsri, M.D., Ph.D., explains how Mayo Clinic Laboratories’ inclusive approach to mitochondrial disease testing expedites diagnosis. Using innovative methodologies like custom reagents and droplet digital PCR enables precision insights on prognosis and treatment options.

The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.