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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.

The Scan

Self-Reported Hearing Loss in Older Adults Begins Very Early in Life, Study Says

A JAMA Otolaryngology — Head & Neck Surgery study says polygenic risk scores associated with hearing loss in older adults is also associated with hearing decline in younger groups.

Genome-Wide Analysis Sheds Light on Genetics of ADHD

A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder.

MicroRNA Cotargeting Linked to Lupus

A mouse-based study appearing in BMC Biology implicates two microRNAs with overlapping target sites in lupus.

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.