Skip to main content

Blueprint Genetics Mitochondrial Genome Analysis

Blueprint Genetics, a Quest Diagnostics company, has introduced full mitochondrial genome DNA (mtDNA) analysis to its diagnostic panels to increase diagnostic potential across medical specialties such as cardiology, metabolic disease, neurology, ophthalmology, and hearing loss. The analysis uses hybridization-based capture of mtDNA and next-generation sequencing to detect low heteroplasmy levels of mtDNA SNVs, indels, and deletions. It includes sequencing and copy number variant analysis of the entire mitochondrial genome (37 genes) which can be ordered alone or added to any panel. It has also been added to 30 existing panels where mitochondrial DNA testing is expected to have an impact on the diagnostic potential.