Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5409" target="_blank" >RIV/00064203:_____/09:5409 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/09:5409

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories

Original language description

DNA diagnostics of genetic diseases increasingly shifts towards utilization of commercial assays. Cystic fibrosis (CF)-related DNA diagnostics were used as a model for a pilot survey of the variability in the utilization of qualitative CE-marked in vitrodiagnostic (IVD) assays and the scale of their modification by end users. A structured questionnaire, developed in the context of the EuroGentest project, was distributed within the frame of the 2005 annual CF external quality assessment (EQA) scheme. Its aim was to evaluate the variability in the use of different CE-marked IVD assays in routine CF DNA diagnostics. Survey results were analysed and sequentially discussed with respective users and/or manufacturers. In total, 125 responses from EQA schemeparticipants were received. Almost half of the respondents modified manufacturer-recommended protocols. They also reported sporadic and/or recurrent problems with assay performance and genotyping of particular alleles.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2009

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

European Journal of Human Genetics

ISSN

1018-4813

e-ISSN

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Volume of the periodical

17

Issue of the periodical within the volume

4

Country of publishing house

GB - UNITED KINGDOM

Number of pages

4

Pages from-to

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UT code for WoS article

000264354900018

EID of the result in the Scopus database

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