Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

ABSTRACT:

Purpose

Many regions have implemented newborn screening (NBS) for cystic fibrosis (CF) using a limited panel of cystic fibrosis transmembrane regulator (CFTR) mutations after immunoreactive trypsinogen (IRT) analysis. We sought to assess the feasibility of further improving the screening using next-generation sequencing (NGS) technology.

Methods

An NGS assay was used to detect 162 CFTR mutations/variants characterized by the CFTR2 project. We used 67 dried blood spots (DBSs) containing 48 distinct CFTR mutations to validate the assay. NGS assay was retrospectively performed on 165 CF screen-positive samples with one CFTR mutation.

Results

The NGS assay was successfully performed using DNA isolated from DBSs, and it correctly detected all CFTR mutations in the validati

SUBMITTER: Baker MW 

PROVIDER: S-EPMC4802962 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature