AmplideX to the Rescue: One Easy-to-Implement Test Workflow Enabling Repeat Expansion Resolution, Copy Number Assessment, and Highly Multiplexed Variant Detection

AmplideX PCR/CE FMR1 kit has become the gold standard for FMR1 analysis. In the last few years, Asuragen has expanded the applications of AmplideX chemistry to other repeat disorder genes (e.g. C9orf72), copy number assays (SMN1/2), and highly multiplexed variant detection (CFTR). This workshop will highlight the experience of one clinical lab moving from assay validation through to routine testing using the AmplideX SMN1/2 Plus Kit. This kit provides the SMN1 and SMN2 copy numbers and detects variants associated with gene duplication and milder disease phenotype, all in one reaction with a simple, scalable, and streamlined workflow with analysis software.