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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F09%3A5409%21RIV10-MZ0-11130___
rdf:type
n12:Vysledek skos:Concept
dcterms: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 vitro diagnostic (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 scheme participants 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. 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 vitro diagnostic (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 scheme participants 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.
dcterms:title
Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories
skos:prefLabel
Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories
skos:notation
RIV/00216208:11130/09:5409!RIV10-MZ0-11130___
n3:aktivita
n15:Z
n3:aktivity
Z(MZ0FNM2005)
n3:cisloPeriodika
4
n3:dodaniDat
n7:2010
n3:domaciTvurceVysledku
n8:9104992 n8:8260516
n3:druhVysledku
n18:J
n3:duvernostUdaju
n14:S
n3:entitaPredkladatele
n10:predkladatel
n3:idSjednocenehoVysledku
348450
n3:idVysledku
RIV/00216208:11130/09:5409
n3:jazykVysledku
n17:eng
n3:klicovaSlova
cystic fibrosis; CE-marked IVD assays; validation; verification; mutation detection; variability; quality-control
n3:klicoveSlovo
n9:verification n9:variability n9:CE-marked%20IVD%20assays n9:quality-control n9:validation n9:mutation%20detection n9:cystic%20fibrosis
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[CA41D08ECBCB]
n3:nazevZdroje
European Journal of Human Genetics
n3:obor
n16:EB
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
5
n3:rokUplatneniVysledku
n7:2009
n3:svazekPeriodika
17
n3:tvurceVysledku
Macek jr., Milan Berwouts, S. Matthijs, G. Dequeker, E. Čamajová, Jana
n3:wos
000264354900018
n3:zamer
n13:MZ0FNM2005
s:issn
1018-4813
s:numberOfPages
4
n5:organizacniJednotka
11130