Heteroplasmy is the presence of more than one type of a genome (in this context, mitochondrial DNA) within a cell or organism. Put another way, a heteroplasmy is where more than one result exists for the same position in a person’s sequence.

  • If each result exists frequently enough in a person’s mtDNA, then the sequencing process will detect both results.
  • Identifying a heteroplasmy can be subjective.