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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/09:5409

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2009

Kód důvěrnosti údajů

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

Název periodika

European Journal of Human Genetics

ISSN

1018-4813

e-ISSN

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Svazek periodika

17

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

4

Strana od-do

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Kód UT WoS článku

000264354900018

EID výsledku v databázi Scopus

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