Asuragen Launches Assay to Aid in the Diagnosis of Myotonic Dystrophy Type I (DM1)
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 (DM1), 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 [AmplideX DM1 Dx Kit] 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.”
The AmplideX DM1 Dx Kit provides multiple benefits to laboratories analyzing this challenging target. The assay features a streamlined, PCR-only workflow with the ability to detect and size repeat expansions up to 200 repeats within an eight-hour laboratory shift. For larger expansions up to 1000 repeats, the assay also features an optional agarose gel electrophoresis (AGE) workflow to further estimate their size without the requirement for Southern blot. The kit provides all necessary reagents to accurately size these expansions from as little as 20ng DNA. Powered by Asuragen’s proprietary AmplideX technology, the assay’s unique, three-primer design also helps to resolve zygosity and detect low-level mosaicism in patient samples. As with the broader AmplideX portfolio of products, the assay is indicated for use on the established suite of Applied Biosystems™ Genetic Analyzers, including the 3130, 3500, and 3730 platforms.
“Despite recent technical advances within our industry, the detection and sizing of repeats in DMPK has remained a significant challenge for diagnostic laboratories worldwide,” said Matthew McManus, M.D., Ph.D., president and CEO of Asuragen. “With this launch, we continue to demonstrate that AmplideX technology is a powerful clinical tool with benefits not just for laboratorians, but also the clinicians and patients who depend on their results.”
Asuragen is a molecular diagnostic product company changing the way patients are treated in genetics and oncology. Asuragen’s diagnostic systems, composed of proprietary chemistry and software, deliver powerful answers using broadly installed instrument platforms. They are simple to adopt and expand the ability to serve patients. Asuragen is a product foundry rapidly and efficiently addressing current and emerging clinical needs, including cancer diagnosis and monitoring, reproductive health and aging, serving laboratories across a patient’s lifespan with its best in class diagnostic tests. For more information, visit www.asuragen.com.
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