Mitochondrial Genome Sequencing

Whole blood, oral swab, or extracted DNA

Whole blood at room temperature; oral swab; extracted DNA (from blood, oral swab or muscle only) or frozen muscle tissue

4 mL, 1 swab, or 200 ng of DNA

Whole blood: 4 mL; oral swab: 3 swabs; muscle: 75 milligrams; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek device only; extracted DNA: sterile screw capped vial

Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; muscle: sterile screw-capped vial; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

This test is used to diagnose mitochondrial disease that is caused by point mutations or small deletions/duplications in the mtDNA. MtDNA point mutations are the most important class of variants detected by this test. While some mitochondrial disorders caused by mtDNA point mutations only affect a single organ (e.g. the eye in Leber hereditary optic neuropathy [LHON]), many involve multiple organ systems and often present with prominent neurologic and myopathic features. Mitochondrial disorders may present at any age. Many individuals with a mutation of mtDNA display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, considerable clinical variability exists, and many individuals do not fit neatly into one particular category, which is well-illustrated by the overlapping spectrum of disease phenotypes.

Diagnostic testing

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.<>

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

This assay does not detect large deletions or mitochondrial depletion. False positive or false negative results may occur for reasons that include homologous regions, blood transfusions, bone marrow transplantation, tissue-specific heteroplasmy, mislabeled samples or erroneous representation of family relationships. Low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.  

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Next-Generation Sequencing

Next-generation sequencing of long range PCR products to identify single nucleotide variants (SNVs) and small indels