Transgenomic, Inc. Launches Best-in-Class Next-Generation Sequencing Test for Nuclear Mitochondrial Disorders

19 Jun 2011
bridget bridget
Laboratory Director

Product news

Transgenomic, Inc. today announced the launch of the Nuclear Mitome Test, a genetic test to aid physicians in the diagnosis of mitochondrial disorders. The Nuclear Mitome Test, employs next-generation sequencing technology to identify mutations in more than 400 genes, and represents the most comprehensive genetic test available for mitochondrial disorders. The announcement was
made at the 2011 United Mitochondrial Disease Foundation annual meeting in Schaumburg, Illinois.

“Determining the specific cause of disease can be quite challenging in patients with mitochondrial disorders,” explained Sihoun Hahn, MD, PhD, Director of Biochemical Genetics at Seattle Children’s Hospital, Professor of Pediatrics at the University of Washington and inventor of the new test.

“Hundreds of genes have been identified as causative or potentially related to mitochondrial diseases that can have symptoms affecting many parts of the body, such as muscle, liver and the nervous system. Using the Nuclear Mitome Test to find the defective genes, clinicians will be able to make a more precise diagnosis and plan the most effective treatments.”

“We are pleased to continue leading the translation of molecular genetics into clinical practice through our new partnership with Seattle Children’s Research Institute,” said Craig Tuttle, CEO of Transgenomic. “The Nuclear Mitome Test presents a tremendous growth opportunity for our Clinical Laboratories division, potentially doubling our current sales over the next three years in the area of mitochondrial disorder genetic testing, which today includes a menu of over 20 distinct tests, and positions the company for greater success in the future.”

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