Asuragen Announces Launch of AmplideX® PCR/CE SMN1/2 Plus Kit

Thursday, November 07, 2019

Asuragen, Inc., a molecular diagnostics company delivering easy-to-use products for complex testing in genetics and oncology, today announced the launch of the AmplideX® PCR/CE SMN1/2 Plus Kit*, which quantifies SMN1 and SMN2 copy number and detects variants associated with SMN1 gene duplication events, which can identify “silent carriers,” and SMN2 disease modification, which may correlate to a less severe phenotype. The assay features a PCR/CE workflow common to others within the company’s rapidly expanding AmplideX portfolio of products, providing results from just a single PCR reaction. 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.

Spinal muscular atrophy (SMA) is a debilitating illness resulting from the deficient production of motor neurons in the central nervous system and can be fatal without timely therapeutic intervention. The disease is caused by a loss of functional copies of the SMN1 gene and its severity is, largely, inversely correlated to the number of copies of SMN2. Carrier 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).

“The identification of SMA carriers and patients, as well as the variants which affect these diagnoses, requires the use of rapid, accurate, and comprehensive molecular diagnostic tools to ensure these individuals have timely access to appropriate interventions,” said Vivianna M. Van Deerlin, MD, PhD, Director of the Molecular Pathology Laboratory and Professor of Pathology and Laboratory Medicine at the University of Pennsylvania Perelman School of Medicine. “The AmplideX PCR/CE SMN1/2 Plus Kit marries the speed, simplicity, and high performance my lab has come to expect from AmplideX technology with the breadth of information now being asked of us to keep pace with this dynamic clinical space.”

The AmplideX PCR/CE SMN1/2 Plus Kit* is a clinical research tool providing the most comprehensive analysis of SMN1 and SMN2 currently available from a commercial kit. From as little as 20 ng DNA, the assay streamlines the reporting of the aforementioned SMN1 and SMN2 exon 7 information in much less time and effort compared to current methodologies, requiring less than one hour of hands-on-time and four hours of total testing time. The kit comes complete with all necessary controls, calibrators, and PCR mixes required to run the assay and features push-button, automated reporting of results via its AmplideX Reporter software.

“AmplideX technology continues to transform how challenging genomic targets can be analyzed, providing simple, same-day solutions in the place of cumbersome, multi-day processes,” said Matthew McManus, MD, PhD, president and CEO of Asuragen. “With the AmplideX PCR/CE SMN1/2 Plus Kit, laboratories everywhere can now quantify copy number and detect variants of significant clinical research interest with an ease and simplicity not possible via alternative methods.”

*For Research Use Only. Not for use in diagnostic procedures.