Mayo Clinic Laboratories > Neurology > Neurogenetics > Mitochondrial disease

Mitochondrial disease

Simplified testing for a challenging diagnosis

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. We offer several molecular test options, which can complement radiological and histological evaluations, to confirm a diagnosis and identify a specific mitochondrial syndrome.

Mitochondrial disease Test menu

Molecular testing Molecular testing
Biochemical testing Biochemical testing

Molecular testing

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

  • CMITO | Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
    • Establishes genetic diagnosis of mitochondrial disease resulting from variants in either nuclear-encoded genes or the mitochondrial genome.
    • Identifies variants known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members.
    • Uses next-generation sequencing to detect single nucleotide and copy number variants in 221 nuclear genes and amplification of the entire mitochondrial genome by long-range polymerase chain reaction.
  • MITOP | Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies
    • Establishes genetic diagnosis of a subset of mitochondrial diseases that results from variants in the mitochondrial genome.
    • Identifies variants within genes of the mitochondrial genome that are known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members.
    • Includes amplification of the entire mitochondrial genome by long-range polymerase chain reaction (LR-PCR) followed by next-generation sequencing to evaluate for variants within the mitochondrial genome.
  • NMITO | Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies
    • Establishes genetic diagnosis in the subset of mitochondrial disease the results from variants in the nuclear-encoded genes.
    • Identifies variants within genes of the nuclear genome known to be associate with mitochondrial disease, allowing for predictive testing of at-risk family members.
    • Uses next-generation sequencing to detect single nucleotide and copy number variants in 221 genes associated with nuclear mitochondrial disease.
  • CLADP | Congenital Lactic Acidosis Panel, Varies
    • Establishes molecular diagnosis of congenital lactic acidosis.
    • Uses NGS to detect single nucleotide and copy number variants in 28 genes associated with congenital lactic acidosis.

Highlights

Mitochondrial Disease [Test in Focus]

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.

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Molecular Mitochondrial Testing [Test in Focus]

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.

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Biochemical 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.

Key testing

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