Enabling Single-Platform Testing and Carrier Screening of the FMR1, SMN1/2, and CFTR Gene Trio
Summary:
Carrier screening for fragile X syndrome, cystic fibrosis and spinal muscular atrophy often requires distinct molecular diagnostic methods and analysis platforms for each gene. We demonstrate 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 2 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.