Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Mei Wang BakerAnne E AtkinsSuzanne K CordovadoMiyono HendrixMarie C EarleyPhilip M FarrellPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
The NGS assay was 100% concordant with traditional methods. Retrospective analysis results indicate an IRT/NGS screening algorithm would enable high sensitivity, better specificity and positive predictive value (PPV). This study lays the foundation for prospective studies and for introducing NGS in NBS laboratories.