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.
Linda Hasadsri, M.D., Ph.D., gives an overview of the three molecular mitochondrial tests available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing improves upon previous testing approaches, and what clinical action can be taken due to the results of this testing.
- Mitochondrial Nuclear Gene Panel by Next-Generation Sequencing (NGS) (Mayo ID: MITON)
- Mitochondrial Full Genome Analysis by Next-Generation Sequencing (NGS) (Mayo ID: MITOP)
- Combined Mitochondrial Analysis, Mitochondrial Full Genome and Nuclear Gene Panel (Mayo ID: MITOT)
When to Order
- Diagnosis of mitochondrial disease that results from mutations in either nuclear-encoded genes or the mitochondrial genome
- A second-tier test for patients in whom previous targeted gene mutation analyses for specific mitochondrial disease-related genes were negative
- Identification of mutations known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members