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Article

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.

Clinical chemistry and laboratory medicine - 27 Jun 2018

Bergougnoux Anne, D'Argenio Valeria, Sollfrank Stefanie, Verneau Fanny, Telese Antonella, Postiglione Irene, Lackner Karl J, Claustres Mireille, Castaldo Giuseppe, Rossman Heidi, Salvatore Francesco, Raynal Caroline

Abstract excerpt

BACKGROUND: Many European laboratories offer molecular genetic analysis of the CFTR gene using a wide range of methods to identify mutations causative of cystic fibrosis (CF) and CFTR-related disorders (CFTR-RDs). Next-generation sequencing (NGS) strategies are widely used in diagnostic practice, and CE marking is now required for most in vitro diagnostic (IVD) tests in Europe. The aim of this multicenter study,...

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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

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Share to Multiplex Polymerase Chain Reaction

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Source

Identifiers

PMID: 29427548
DOI: 10.1515/cclm-2017-0553

Genes

CFTR
IVD

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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