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Enabling Single-Platform Testing and Carrier Screening of the FMR1, SMN1/2, and CFTR Gene Trio
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"Enabling Single-Platform Testing and Carrier Screening of the FMR1, SMN1/2, and CFTR Gene Trio"

Carrier screening for fragile X syndrome, cystic fibrosis, and spinal muscular atrophy often requires distinct molecular diagnostic methods and analysis platforms for each gene.

This poster from Asuragen demonstrates the feasibility of trio carrier screening of FMR1, SMN1/2, and CFTR using existing workflows and a single analysis platform with harmonized electrophoresis conditions across two CE instrument models. This approach reduces hands-on and instrument time and simplifies required instrumentation and consumables, providing a cost-effective option for laboratories who are interested in trio carrier screening.


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