Performance evaluation of a PCR/Nanopore assay for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome

Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome are among the most common inherited genetic disorders making carrier screening essential for identifying at-risk couples. Traditional screening often involves multiple workflows and may miss rare variants. Comprehensive sequencing offers broader variant detection across diverse populations. We validated a PCR/Nanopore-based assay for comprehensive assessment of CFTR, SMN1/2, and FMR1. Samples included anonymized DNA from: whole blood (archival clinical samples, n = 53), cell lines (n = 19), and residual CAP proficiency testing material (n = 3).