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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2016

Baker Mei W, Atkins Anne E, Cordovado Suzanne K, Hendrix Miyono, Earley Marie C, Farrell Philip M

Abstract excerpt

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...

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Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dried Blood Spot Testing

Share to Feasibility Studies

Share to High-Throughput Nucleotide Sequencing

Share to Infant, Newborn

Share to Neonatal Screening

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 25674778
DOI: 10.1038/gim.2014.209
PMCID: PMC4802962

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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