In the study, the AmplideX® Kit was evaluated independently at GenePhile Bioscience Laboratory in Taiwan; the University Medical Center Groningen in the Netherlands; Turku University Hospital in Finland; and the Hospital of the University of Pennsylvania in Philadelphia, PA. In total, 468 clinical DNA samples were tested. Overall, copy number results for the Kit were 98.6% (SMN1) and 97.1% (SMN2) concordant with reference results from other methods, such as multiplex ligation-dependent probe amplification (MLPA). The additional variants were 100% concordant with Sanger sequencing.
"Breakthrough molecular medicines for SMA have raised the bar for more informative and timely SMA diagnostic assays even as labs have been overwhelmed by testing for the COVID-19 pandemic," 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. "Our validation results demonstrate that the AmplideX Kit not only produces quality results, but it does so using a fast, flexible format that can be easily implemented – at a time when efficient assays and lab operations are more important than ever."