Asuragen, Inc., a molecular diagnostics company delivering easy-to-use products for complex testing in genetics and oncology, today announced the CE marking and launch of the AmplideX DM1 Dx Kit, which simplifies the analysis of repeat expansions within the DMPK gene and is intended to aid in the diagnosis of Myotonic Dystrophy Type I, also known as Steinert's Disease. DM1 is an inherited form of muscular dystrophy that affects approximately 1 in 8,000 people worldwide. The condition is associated with a repeat expansion of 50 CTG trinucleotides or greater in the DMPK gene, with disease severity positively correlated to the number of repeats. These expansions can extend beyond a thousand repeats, requiring the use of cumbersome Southern blot technology to estimate their size and assess disease prognosis.
"We have verified the in our diagnostic laboratory and were delighted with the results," said Nicola Williams, consultant clinical scientist of Queen Elizabeth University Hospital in Glasgow. "This assay is easy to use from test setup to analysis and reporting of results. It was able to detect and resolve every expansion we investigated and provided accurate sizing of large pathogenic repeats."