Improving post-natal detection of mitochondrial DNA mutations.

We report on the recent contributions of NGS testing to the diagnosis and understanding of MD. EXPERT OPINION: The progress of NGS technologies allows the simultaneous detection of mutations and quantification of the heteroplasmy level, ensuring sensitivity and specificity requested for the detection of mitochondrial DNA point mutations. NGS protocols enabling the simultaneous analysis of mitochondrial and nuclear DNA are now efficient and cost-saving approaches, and have become the gold-standard technique in diagnostic laboratories. PMID: 32902337 [PubMed - as supplied by publisher]
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research