MEDomics Announces MitoDx(TM), the First NextGen Mitochondrial Genome Diagnostic Test
Published: Jun 09, 2009
PRNewswire -- MEDomics, LLC announces an innovative 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. The MEDomics mitochondrial genome test, MitoDx(TM), uses the revolutionary NextGen sequencing technology to detect all mutations in any of the 37 mitochondrial DNA genes. The MEDomics 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.
Disease from mutations in mitochondrial DNA is now thought to be common in both adults and children. In childhood, mitochondrial disease is more common than muscular dystrophy or cancer. Most mitochondrial disease may go undiagnosed because a primary care physician does not suspect the disease or because the causative mutation is missed by current methods.
"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.
Mitochondria are the "power plants" of the cell, providing energy for cellular processes, including growth, and metabolism. Mutations in mitochondrial genes may decrease energy production and affect multiple organs. Since cells contain hundreds of mitochondrial DNA molecules, any particular tissue may contain mitochondrial DNA molecules that are all identical, or there may be a fraction that differs. When both normal and mutant molecules exist, the mitochondria are said to be "heteroplasmic." The heteroplasmic fraction of mutations can differ substantially among tissues.
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, Kelly Gonzalez, and Bill Scaringe are currently Senior Scientist, Director of Genetic Counseling & Education, and Director of Bioinformatics at MEDomics, respectively.
Richard Boles, MD, Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital, Los Angeles, is the distinguished clinical consultant for MEDomics in mitochondrial diseases.