Variants included in this panel account for >80% of MELAS, ~90% of MERRF, ~95% of LHON, ~ 50% of NARP, and ~ 20% of Leigh Syndrome cases.
Note: This test may not detect variants with a heteroplasmy of less than 10% using NGS. It is not possible to confirm all reported variants by Sanger sequencing because levels of mutant heteroplasmy 20% or lower may not be detected by Sanger. Additionally, levels of mutant heteroplasmy above 80% will appear homoplasmic by Sanger sequencing. Although this test is capable of collecting data on variants at other loci in the mitochondrial genome, it does not evaluate for variants other than those listed above. Additional variants which may be present in the patient are not reported with this test. Large deletions or duplications in the mitochondrial genome are not identified with the current sequencing protocol. As heteroplasmy levels vary from tissue to tissue, a negative blood test cannot completely rule out the chance that an individual carries a mtDNA variant that is either at very low heteroplasmy levels in blood or present in a different tissue type.