Next-generation sequencing analyses of the whole mitochondrial genome

Abstract

Molecular diagnosis of mitochondrial DNA (mtDNA)-related disorders requires the detection and quantification of point mutations and large deletions, including mapping the deletion breakpoints. Currently, comprehensive diagnosis is achieved by employing stepwise procedures. The massively parallel next-generation sequencing (NGS) when appropriately validated, with deep coverage and proper quality controls, can be used as a one-step comprehensive diagnostic approach to simultaneously detect and quantify mtDNA point mutations and deletions in a CLIA-certified clinical laboratory.