Test in Focus
Mitochondrial disease is a progressive, multi-system neurodegenerative illness with a highly variable clinical presentation. In this "Test in Focus" episode of the "Answers From the Lab" podcast, Linda Hasadsri, M.D., Ph.D., discusses how advanced testing through Mayo Clinic Laboratories can expedite diagnosis for the challenging condition.
“Mitochondrial patients, at least in the Mayo experience, have to wait an average of approximately 12 years before they finally receive a diagnosis,” Dr. Hasadsri says. “A number of mitochondriopathies are actually treatable, and a timely diagnosis can really change the entire clinical course for a patient and their family.”
Mayo Clinic Laboratories offers a full suite of biochemical and molecular testing for mitochondrial diseases under one roof. Our molecular tests utilize custom-designed sequencing reagents and employ a pioneering methodology known as droplet digital PCR to determine heteroplasmy.
“We are the first and only lab that I know of in the world that utilizes this technology for this purpose, and it’s the only methodology that is truly quantitative,” Dr. Hasadsri says. “Accurate and sensitive determination of heteroplasmy is incredibly important, not just diagnostically, but also for the clinical management and prognostication in these patients.”
Listen to learn more about how mitochondrial disease testing can accelerate diagnosis and provide patients and providers insight about disease progression and treatment options.
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Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Specimen Type: Cultured fibroblasts
Specimen Type: Skin biopsy
Specimen Type: Tissue biopsy
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