- Upon strong suspicion of mitochondrial disease, when sequencing of nuclear genes has yielded negative results.
- Upon strong suspicion of a disease that, based on its symptoms, can be highly specific of mutations in mitochondrial DNA.
- Upon suspicion of a disease with matrilineal inheritance (typical of this type of mutations, which only women transmit to both male and female offspring) whose manifestations are consistent with the spectrum of mitochondrial diseases.
- When NGS panels aimed at a specific cardiovascular phenotype have tested negative and the possibility of mutations in mitochondrial DNA causing the clinical picture needs to be ruled out.
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