Advertisement

Topics

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

07:00 EST 10th February 2018 | BioPortfolio

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

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.

Affiliation

Journal Details

This article was published in the following journal.

Name: Clinical chemistry and laboratory medicine
ISSN: 1437-4331
Pages:

Links

DeepDyve research library

PubMed Articles [31808 Associated PubMed Articles listed on BioPortfolio]

The detection and significance of cystic fibrosis transmembrane conductance regulator gene promoter mutations in Chinese patients with congenital bilateral absence of the vas deferens.

Mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) gene can be involved in the development of congenital bilateral absence of the vas deferens (CBAVD). This study was aim...

CFTR potentiation by VX-770 involves stabilization of the pre-hydrolytic, O state.

Cystic fibrosis (CF) is a debilitating hereditary disease caused by mutations in the CFTR gene, which encodes an anion channel. WT-CFTR gating is a non-equilibrium process. After ATP binding, CFTR ent...

A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies.

Nonsense mutations are present in 10% of patients with CF, produce a premature termination codon in CFTR mRNA causing early termination of translation, and lead to lack of CFTR function. There are no ...

Comparison of passive and scanning irradiation methods for carbon-ion radiotherapy for breast cancer.

The dose distribution of passive and scanning irradiation for carbon-ion radiotherapy for breast cancer was compared in order to determine the preferred treatment method. Eleven Japanese patients who ...

Targeting of the cystic fibrosis transmembrane conductance regulator (CFTR) protein with a technetium-99m imaging probe.

Cystic fibrosis (CF) is caused by mutations in the gene that encodes the CF transmembrane conductance regulator (CFTR) protein. The most common mutation, F508del, leads to almost total absence of CFTR...

Clinical Trials [8444 Associated Clinical Trials listed on BioPortfolio]

Phase I Randomized Study of Adeno-Associated Virus-CFTR Vector in Patients With Cystic Fibrosis

OBJECTIVES: I. Determine the maximum tolerated dose of recombinant adeno-associated virus-CFTR vector in patients with cystic fibrosis. II. Assess the safety of this gene therap...

A Two-Part Multicenter Prospective Longitudinal Study of CFTR-dependent Disease Profiling in Cystic Fibrosis (PROSPECT)

identify and validate biomarkers that might reflect partial restoration of CFTR function and can be used to monitor disease progression, and ii) evaluate the mechanistic effects of CFTR mo...

Study of VX-809 in Cystic Fibrosis Subjects With the ∆F508-CFTR Gene Mutation

The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-809 in subjects with cystic fibrosis who have the ∆F508-CFTR gene mutation...

Personalized Theratyping Trial

The purpose of this study is to explore the use of off-label CFTR modulators that may affect CFTR function in patients with CFTR mutations that are not currently approved for these drugs.

CHaractErizing CFTR Modulated Changes in Sweat Chloride and Their Association With Clinical Outcomes

This is a multicenter, cross-sectional, cohort study which will collect contemporary SC values from approximately 1000 CF patients prescribed and currently receiving commercially approved ...

Medical and Biotech [MESH] Definitions

Controlled studies which are planned and carried out by several cooperating institutions to assess certain variables and outcomes in specific patient populations, for example, a multicenter study of congenital anomalies in children.

A strain of mice widely studied as a model for cystic fibrosis. These mice are generated from embryonic stem cells in which the CFTR (cystic fibrosis transmembrane conductance regulator) gene is inactivated by gene targeting. As a result, all mice have one copy of this altered gene in all their tissues. Mice homozygous for the disrupted gene exhibit many features common to young cystic fibrosis patients, including failure to thrive, meconium ileus, and alteration of mucous and serous glands.

Scanning microscopy in which a very sharp probe is employed in close proximity to a surface, exploiting a particular surface-related property. When this property is local topography, the method is atomic force microscopy (MICROSCOPY, ATOMIC FORCE), and when it is local conductivity, the method is scanning tunneling microscopy (MICROSCOPY, SCANNING TUNNELING).

Work consisting of a controlled study executed by several cooperating institutions.

Compliance with a set of standards defined by non-governmental organizations. Certification is applied for by individuals on a voluntary basis and represents a professional status when achieved, e.g., certification for a medical specialty.

Advertisement
Quick Search
Advertisement
Advertisement

 


DeepDyve research library

Relevant Topics

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

DNA sequencing
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...

Pulmonary
Pulmonary relating to or associated with the lungs eg Asthma, chronic bronchitis, emphysema, COPD, Cystic Fibrosis, Influenza,  Lung Cancer, Pneumonia, Pulmonary Arterial Hypertension, Sleep Disorders etc Follow and track Lung Cancer News ...


Searches Linking to this Article