MEDomics, LLC has announced a novel test for early diagnosis of mitochondrial diseases, a group of disorders that can result in neurological dysfunction, muscle weakness, gastrointestinal symptoms, migraine headaches, blindness, deafness, and diabetes. MitoDx, the company’s mitochondrial genome test, uses the novel NextGen sequencing technology to detect all mutations in any of the 37 mitochondrial DNA genes. The company team of experts provides interpretation of the functional significance of detected mutations. This comprehensive test offers exceptionally high diagnostic utility for suspected mitochondrial disease, enabling potentially lifesaving therapy and accurate risk counseling.
To my knowledge, MEDomics is the first laboratory to offer a whole genome clinical diagnostic test utilizing the powerful NextGen sequencing technique, says Steve S Sommer, MD, PhD, Founder and President of MEDomics.
It is critical to detect heteroplasmy sensitively, since even low levels in blood, which is routinely tested, may reveal disease affecting other organs. Such low levels of heteroplasmy in blood are generally not detected by standard methods, but are detected by the MEDomics test utilizing NextGen sequencing technology. The error rate determines how small a mutant fraction is reliably detected. MEDomics uses the Applied Biosystems SOLiD 3 NextGen sequencing platform which has an exceptionally low error rate, allowing detection of heteroplasmy down to about 1%.
The MEDomics NextGen mitochondrial genome test can help diagnose mitochondrial disease, enabling life-saving therapy decisions and allowing for accurate family risk counseling.