P620: A PCR/nanopore assay for accurate variant detection in hard-to-decipher carrier screening genes with automated analysis software

Carrier screening identifies couples at risk for having a child with a severe genetic disorder. Although NGS is a widely used method for carrier screening, it fails to resolve many problematic genes recommended in professional practice guidelines that have GC-rich repeats, structural variation, and pseudogenes. This necessitates the use of multiple specialized workflows that remain limited in their coverage of pathogenic variation.