Clinical investigational studies for validation of a next-generation sequencing<i>in vitro</i>diagnostic device for cystic fibrosis testing

Abstract

This is the first systematic evaluation of a NGS platform for broad clinical use as an in vitro diagnostic, including accuracy validation with multiple reference methods and reproducibility validation at multiple clinical sites. These NGS-based Assays had accurate and reproducible results which were comparable to or better than other methods currently in clinical use for clinical genetic testing of cystic fibrosis.