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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.

Asuragen Corporate Satellite Video with Slides on the left hand side and the speaker on the right hand site
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