Which is the best NGS approach for CFTR diagnosis: Targeted NGS or whole exome sequencing?

Accurate detection of CFTR variants is critical for effective cystic fibrosis screening and diagnosis. As labs face growing variant diversity and workflow complexity, next-generation sequencing has become essential. While whole exome sequencing offers broad coverage, targeted NGS delivers more uniform sequencing of clinically relevant CFTR regions, enabling reliable detection of SNVs, indels, exon-level CNVs, key intronic variants, and the poly-T/TG haplotype.

This white paper examines analytical and regulatory factors that influence the choice between exome sequencing and targeted NGS for CFTR testing and discusses how purpose-designed assays, such as Devyser CFTR, support diagnostic accuracy, operational efficiency, and compliance with the European In Vitro Diagnostic Regulation.