According to their press release, the current diagnostic measures required to achieve a positive identification are nothing short of Odysseus’s own journeys throughout the Mediterranean. Patients are often required to take numerous genetic and non-genetic tests, meet with multiple medical specialists, and slaughter at least one of the Cyclopes known to inhabit the halls of medical facilities.
Transgenomics’s alternative was built from the ground-up to focus on mitochondrial disorders therefor alleviating the need to rely on multiple non-specific genetic tests. As stated in the press release, “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.”
Although the press release does not specifically state the availability of the test, the CEO of Transgenomics alludes to its positive adoption with such remarks as, “Since its launch in June 2011, clinicians have embraced this test…” & “
More information about Transgenomic Inc. can be located at www.transgenomic.com. As far as the actual presentation (other than a simple press release) I have yet to see anything published. If something does make its way out into the public, I will make sure to post it here.