The MitoDx test is much more accurate than any test currently available and will aid in the detection of mitochondrial diseases.

Los Angeles, CA — MEDomics Senior Scientist Carolyn H. Buzin and MEDomics Senior Scientist Fan Chen, Ph.D., Medomics Chief Technical Officer and mutation expert, traveled to Taipei, Taiwan to provide a featured 45-minute presentation on Medomic’s newly released MitoDx test at the annual meeting of the Asian Society of Mitochondrial Research and Medicine.

MEDomics, LLC (www.medomics.com) is the first CLIA Certified Laboratory focused on the clinical diagnostic application of NextGen sequencing.

Mitochondria are the powerhouses of the body’s cells. MEDomics is applying NextGen sequencing to improve the diagnosis of mitochondrial diseases. Thanks to the power of NextGen sequencing, mitochondrial diseases can be diagnosed more simply and more sensitively from blood or saliva. MitoDX sequences the 16,500 DNA bases of the whole mitochondrial DNA not once or twice but thousands of times to find “heteroplasmic mutations” with high sensitivity. These mutations are most often of greatest clinical significance and these are often missed in blood by conventional testing.

MitoDx is about 30-fold more sensitive than conventional sequencing. The test approach, the clinical experience / utility will be presented at the annual meeting. The meeting is the annual focal point for the Asian researchers in mitochondrial disease as well as physicians who diagnose and treat mitochondrial diseases.

Early diagnosis is important since these conditions are especially common in children, and treatment can often prevent serious complications or death. Steve S. Sommer, M.D., Ph.D, developer of the “MitoDx” test says that the company plans to offer the test through physicians and children’s hospitals throughout the world.

The MEDomics MitoDx(TM) test detects and interprets essentially all mutations within the mitochondrial DNA (mtDNA) genome. MEDomics is the first laboratory to offer a true clinical genomic diagnostic test utilizing NextGen sequencing. The power of this new technology makes the mitochondrial test much more accurate than any test currently available and will aid in the detection of mitochondrial diseases.

Each cell contains hundreds to thousands of mitochondria, providing energy for all cellular processes, including growth, division, and metabolism. Each mitochondrion contains several to a few dozen mtDNA genomes. Although the nuclear DNA makes up the chromosomes and provides most of the body’s “design plan” for each individual, the about 16,500 DNA bases composing the mitochondrial genome encodes 37 genes that are vitally important for energy production.

Individuals receive their mtDNA from their mothers. Thus, diseases caused by mutations in the mtDNA are generally either inherited from the mother or are caused by a new mutation in the individual. Mutations in the mtDNA may decrease energy production, with damaging effects on many different organs in the body.

Mitochondrial diseases can affect multiple organs and generate a variety of symptoms. According to Dr. Sommer, “This new test enhances the utilization of blood to test for suspected mtDNA disease. As a result, fewer patients with mitochondrial DNA disease should escape detection.” The NextGen mitochondrial genome test for mtDNA mutations can offer physicians confirmation of a possible mitochondrial disease diagnosis, enable rational therapy decisions, provide guidance on the prognosis of disease and allow for accurate risk counseling to the family.

About MEDomics

MEDomics was founded in July, 2008 by Steve S. Sommer, MD, PhD, with the mission of providing Mutation Expert-based Diagnosis to support the physician in delivering personalized medicine based on the patient’s DNA. The mutation experts at MEDomics utilize bioinformatics, clinical genetics, and mutation analysis to provide the ultimate in interpretation by experts who devote their careers to research, clinical genetics and molecular diagnosis.

Dr. Sommer is a Founding Fellow of the American College of Medical Genetics with 20 years’ experience in Molecular Diagnosis.

With Richard Boles, MD, the Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital Los Angeles, as a distinguished clinical consultant for MEDomics on mitochondrial diseases.