Comprehensive SMA genetic testing requires accurate copy number quantification of SMN1 and SMN2 as well as detection of relevant variants. Learn from one lab’s experience implementing a fully kitted solution to quantify SMN1/2 copies and detect gene duplication variants to help identify “silent carriers” (2+0 genotype) in an Italian population. Also hear how you can expand your test menu with solutions for a trio of common genetic targets (CFTR, SMN1/2, and FMR1). Learn more about the AmplideX SMA Plus Kit (CE-IVD) here and the Trio workflow here. Webinar originally presented at ESHG 2022.

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