Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.
Clin Chem Lab Med
; 56(7): 1046-1053, 2018 06 27.
Article
en En
| MEDLINE
| ID: mdl-29427548
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 ANDCONCLUSIONS:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Análisis de Secuencia de ADN
/
Regulador de Conductancia de Transmembrana de Fibrosis Quística
Tipo de estudio:
Clinical_trials
/
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
País/Región como asunto:
Europa
Idioma:
En
Revista:
Clin Chem Lab Med
Asunto de la revista:
QUIMICA CLINICA
/
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Año:
2018
Tipo del documento:
Article
País de afiliación:
Francia