Molecular diagnostic company Asuragen Inc on Tuesday reported the receipt of the CE Mark for the AmplideX SMA Plus Kit vitro diagnostic assay to aid in the diagnosis of spinal muscular atrophy (SMA), as well as identify the carrier screening of SMA, 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.

SMA is associated with a loss of functional copies of the SMN1 gene and its severity is inversely correlated to the number of copies of SMN2. By quantifying SMN1 and SMN2 copy number, as well as detecting additional variants associated with "silent carrier" status and overall disease prognosis, the company's kit provides a single laboratory solution to address both diagnostic and screening applications.

The company said the AmplideX SMA Plus 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.

In a single PCR reaction, the assay streamlines the reporting of SMN1 and SMN2 exon 7 information in less time compared to current methodologies, requiring less than one hour of hands-on-time and four hours of total testing time. The assay is optimized for use on the Applied Biosystems family of Genetic Analyzers and is compatible with a range of thermal cycling equipment, concluded the company.