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(TM) 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.
MEDomics is a molecular diagnostic laboratory founded in 2008 by Steve S. Sommer, MD, PhD, with the mission of providing Mutation Expert-based Diagnosis ("MED") to support the physician in delivering personalized medicine based on analysis of the patient's genome ("omics"). The mutation experts at MEDomics provide unparalleled quality interpretation to aid the practicing physician.
Dr. Sommer is a Founding Fellow of the American College of Medical Genetics with 25 years experience in Clinical Molecular Diagnosis and over 300 scientific publications and patents. During the past few years, his personalized cancer genetics research and clinical team, including Kelly Gonzalez, MS, and Bill Scaringe, MS, discovered mutation showers. Mutation showers may occasionally cause cancer in an instant. His neuropsychiatric genetics team, including Carolyn Buzin, PhD, also helped to define the first genes for which mutations strongly predispose to schizophrenia or autism. Carolyn Buzin, Kel
|SOURCE MEDomics, LLC|
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