Transgenomic, Inc. Announces Presentation of Results from 448-Gene NuclearMitome Test in 78 Patients at the 2012 Annual Meeting of the American College of Medical Genetics
OMAHA, Neb., March 30, 2012 – Transgenomic, Inc. (OTC/BB: TBIO) today announced that Jeana DaRe, Ph.D., Assistant CLIA Laboratory Director at Transgenomic, presented clinical findings from patients tested for nuclear mitochondrial disorders using Transgenomic’s NuclearMitome Test on Thursday, March 29, at the 2012 Annual Meeting of the American College of Medical Genetics (ACMG) in Charlotte, North Carolina. The discussion, titled “Clinical re-sequencing of over 410 genes to diagnose mitochondrial disorders” included details of both the technical performance of the NuclearMitome Test as well as the wide variety of clinically revealing results discovered through its use. The NuclearMitome Test employs next-generation sequencing technology to identify mutations in 448 genes, and represents the most comprehensive genetic test available for mitochondrial disorders.
In her presentation, Dr. DaRe highlighted two case studies. In both cases, patients achieved a definitive diagnosis through the identification of genetic mutations far outside the normal spectrum of genetic testing. These results concluded the patients’ diagnostic odysseys, which had encompassed wide-ranging genetic and non-genetic tests as well as consultation with various medical specialties, all of which had failed to pinpoint the underlying disease. These results are a typical occurrence in patients sent for NuclearMitome testing. “The NuclearMitome Test is a cutting-edge technology that is reshaping the process for accurately diagnosing and effectively treating patients with mitochondrial disorders,” said Craig Tuttle, CEO of Transgenomic. “Since its launch in June 2011, clinicians have embraced this test as a way to simultaneously assay the hundreds of genes relevant to mitochondrial-based developmental disorders and achieve otherwise impossible diagnoses. The NuclearMitome test is rapidly becoming an important asset for the medical and patient communities and for Transgenomic.”
About Mitochondrial Diseases Mitochondrial diseases are the most common metabolic diseases of childhood with an estimated frequency of 1 in 2000 births. They are characterized by multi-organ involvement, particularly neuromuscular symptoms, and often follow a rapidly progressive course. The variability in clinical presentation makes diagnosis tremendously challenging, as it traditionally relies on often-inconclusive enzymatic analyses that do not pinpoint the underlying molecular defect. Knowledge of the specific cause of disease can be important for developing personalized treatment strategies. About Transgenomic, Inc.
Transgenomic, Inc. (www.transgenomic.com) is a global biotechnology company advancing personalized medicine in cancer and inherited diseases through its proprietary molecular technologies and world-class clinical and research services. The company has three complementary business divisions: Transgenomic Pharmacogenomic Services is a contract research laboratory that specializes in supporting all phases of preclinical and clinical trials for oncology drugs in development. Transgenomic Clinical Laboratories specializes in molecular diagnostics for cardiology, neurology, mitochondrial disorders, and oncology. Transgenomic Diagnostic Tools produces equipment, reagents, and other consumables that empower clinical and research applications in molecular testing and cytogenetics. Transgenomic believes there is significant opportunity for continued growth across all three businesses by leveraging their synergistic capabilities, technologies, and expertise. The company actively develops and acquires new technology and other intellectual property that strengthen its leadership in personalized medicine.
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Posted: April 2012