A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.

Abstract

The detection of two frequent CFTR disease-causing variations in the context of a newborn screening program (NBS) usually leads to the diagnosis of cystic fibrosis (CF) and a relevant genetic counseling in the family. In the present study, CF-causing variants p.Phe508del (F508del) and c.3140-26A>G (3272-26A>G) were identified on a neonate with positive… (More)
DOI: 10.1016/j.jcf.2016.04.003

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Cite this paper

@article{Bergougnoux2016AFP, title={A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.}, author={Anne Bergougnoux and Amandine Boureau-Wirth and C{\'e}cile Rouzier and J A Altieri and Fanny Verneau and Lise Larrieu and Michel Koenig and Mireille Claustres and Caroline Raynal}, journal={Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society}, year={2016}, volume={15 3}, pages={309-12} }