TX-ASURAGEN
7.7.2020 09:02:10 CEST | Business Wire | Press release
Asuragen, Inc., a molecular diagnostics company delivering easy-to-use products for complex testing in genetics and oncology, today announced CE Mark of the AmplideX® SMA Plus Kit* , an in vitro diagnostic assay to aid in the diagnosis of spinal muscular atrophy (SMA) and to identify asymptomatic carriers at risk of passing along the disease to their children. By quantifying SMN1 and SMN2 copy number, as well as detecting additional variants associated with “silent carrier” status and overall disease prognosis, the kit provides a single laboratory solution to address the unique needs of both diagnostic and screening applications.
SMA is a debilitating illness resulting from the deficient production of motor neurons in the central nervous system and is a leading genetic cause of infant death. The disease is associated with a loss of functional copies of the SMN1 gene and its severity is, largely, inversely correlated to the number of copies of SMN2 . Recent studies have shown that detection of gene duplication variants in the SMN1 gene may identify “silent carriers” for the disease who may otherwise be undetected by raw copy number analysis. Furthermore, the detection of a unique SMN2 disease modifier variant suggests a milder disease phenotype and may influence patient management. Overall screening and diagnostic efforts have spiked following the recent recommendations by the American College of Obstetrics and Gynecology and the availability of novel treatments including nusinersen (Spinraza® , Biogen Idec) and onasemnogene abeparvovec-xioi (ZOLGENSMA® , Novartis).
“Our laboratory has many years of experience testing various methodologies for the quantification of SMN1 and SMN2 , but the [AmplideX SMA Plus Kit] has now set the bar for speed and simplicity,” said Henny Lemmink, PhD, Clinical Laboratory Geneticist, Department of Genetics, UMC Groningen. “By incorporating reporting of silent carrier risk as well as SMN2 disease modifier presence all from the same reaction, there is no comparison on the market for getting so much information so quickly and promises to become the first choice in diagnosis and carrier screening of SMA.”
The AmplideX SMA Plus Kit* is the most comprehensive commercial offering available to support the diagnosis and carrier screening of SMA. The kit comes complete with all necessary controls, calibrators, and PCR mixes required to run the assay and features push-button, automated reporting of patient results via its AmplideX Reporter software. From just a single PCR reaction, the assay streamlines the reporting of SMN1 and SMN2 exon 7 information in less time and effort compared to current methodologies, requiring less than one hour of hands-on-time and four hours of total testing time. Similar to other products within the AmplideX product portfolio, the assay is optimized for use on the Applied Biosystems™ family of Genetic Analyzers and is compatible with a broad range of thermal cycling equipment.
“Given the emergence of novel treatments and interventions for SMA, the demand for fast and accurate test results is greater than ever,” said Matthew McManus, MD, PhD, president and CEO of Asuragen. “With the AmplideX SMA Plus Kit, laboratories how have a simple and scalable solution to deliver meaningful results in a fraction of the time compared to alternative methods.”
*CE-IVD for US export only.
About Asuragen
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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