Mitochondrial - quantitative
Overview
Quantitative testing is a functional study performed if required after first line testing.
Deletion quantitation
This test can quantitate the heteroplasmy levels of previously identified mtDNA deletions in samples where there is a concern regarding whether the amount of deleted mtDNA is likely to be sufficiently high to cause symptoms.
Depletion quantitation
Mitochondrial DNA depletion testing uses quantitative PCR to determine the amount of mtDNA in a tissue sample relative to the amount of nuclear DNA. mtDNA depletion causes a range of conditions, most often affecting liver (in hepatic presentations) or muscle (in myopathic presentations), and the testing typically needs to be performed on the affected tissue.
Test type
Polymerase chain reaction (PCR)