The complexity of mitochondrial disease and the amount of clinical and laboratory data required for each patient necessitates a streamlined testing approach and expertise to synthesize and integrate test results. We recommend sequencing the entire mitochondrial genome and/or performing a comprehensive nuclear gene panel and offer four molecular test options, which can complement radiological and histological evaluations, to confirm a diagnosis and identify a specific mitochondrial syndrome.
Mitochondrial disease Test menu
Our testing employs highly sensitive droplet digital polymerase chain reaction (ddPCR) technology to detect mitochondrial DNA deletions and duplications. This is the only method available to enable absolute, rather than relative/indirect, quantification of heteroplasmy and significantly reduces the risk of false-negative and false-positive results. To successfully capture copy number variants that fall outside of normal breakpoints typically detected by other laboratory tests, our assay uses six different primer sets. This approach has enabled successful diagnoses in patients with previous false-positive or false-negative results from other labs.
Key testing
Highlights
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.
The diagnostic process for mitochondrial disease may begin with a set of biochemical tests that, when abnormal, can be indicative of a metabolic disorder. Correlating biochemical laboratory results with the clinical presentation and other test results can further confirm suspicion of mitochondrial disease.
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