Transgenomic, Inc. (OTCBB: 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."
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