All of us, both men and women, have mitochondrial DNA (mtDNA). However, only women can pass on mitochondria and thus mitochondrial DNA to their children. Mitochondrial DNA has certain unique features that make it an alternative testing strategy in certain cases. The high copy number of mitochondrial DNA in the cells permits analysis of bad quality samples (degraded, etc.) and therefore mtDNA analysis may provide genetic information regarding maternal inheritance.
In cases where the parents or other members are not available, instead of analyzing multiple family members through the classic nuclear DNA analysis of STR markers, we can apply the analysis of mtDNA to confirm or exclude maternal relationships. While mtDNA analysis is useful for identifying maternal inheritance, it cannot be applied for paternity testing.
This test compares the mtDNA sequence of an individual with the reference mtDNA sequence (Cambridge sequence) and identifies changes in two specific, highly variable regions. It should be noted that mtDNA analysis is a very demanding and time-consuming DNA profiling test.