Author:
Bergougnoux Anne,D’Argenio Valeria,Sollfrank Stefanie,Verneau Fanny,Telese Antonella,Postiglione Irene,Lackner Karl J.,Claustres Mireille,Castaldo Giuseppe,Rossmann Heidi,Salvatore Francesco,Raynal Caroline
Abstract
Abstract
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, which involved three European laboratories specialized in CF molecular analysis, was to evaluate the performance of Multiplicom’s CFTR MASTR Dx kit to obtain CE-IVD certification.
Methods:
A total of 164 samples, previously analyzed with well-established “reference” methods for the molecular diagnosis of the CFTR gene, were selected and re-sequenced using the Illumina MiSeq benchtop NGS platform. Sequencing data were analyzed using two different bioinformatic pipelines. Annotated variants were then compared to the previously obtained reference data.
Results and conclusions:
The analytical sensitivity, specificity and accuracy rates of the Multiplicom CFTR MASTR assay exceeded 99%. Because different types of CFTR mutations can be detected in a single workflow, the CFTR MASTR assay simplifies the overall process and is consequently well suited for routine diagnostics.
Subject
Biochemistry, medical,Clinical Biochemistry,General Medicine
Cited by
25 articles.
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