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Title: Evaluation of a synthetic quality control sample in a European EQA scheme
Authors: Berwouts, Sarah ×
Christensen, Todd M
Brandon, Jill
Bejjani, Bassem
Barton, David E
Dequeker, Els #
Issue Date: Nov-2008
Publisher: Journal of molecular diagnostics
Host Document: Journal of molecular diagnostics vol:10 issue:6 pages:597-598
Conference: 14th Annual Meeting of the Association-for-Molecular-Pathology location:Grapevine, TX date:29 Oct - 2 Nov, 2008
Article number: LM02
Abstract: Introduction: With the arrival of increasingly complex molecular tests we are forced to
identify and create new ways to monitor and troubleshoot the daily performance of
these multiplex assays. We have designed and validated a specific synthetic reference
sample to augment a typical standard genomic DNA control set. This control was
included as an evaluation sample in the European cystic fibrosis (CF) network External Quality Assessment (EQA) scheme in 2007 to assess its utility and performance in a
large set of laboratories throughout the world. Materials and Methods: We designed,
tested, and validated a collection of synthetic DNA molecules that may be used as a
control for the simultaneous detection of 32 mutations associated with CF. Using the
synthetic control in addition to a genomic mutant, a genomic wild-type, and a no
template sample we have created a comprehensive quality control system for cystic
fibrosis testing. This control, while designed specifically for the OLA platform, has
application on other assays. To assess the utility of the control we submitted samples to
the CF EQA / PT program of EuroGentest, which is a network of excellence for
evaluation. Results: There were 105 laboratories in 19 countries that registered to
participate in the evaluation of the synthetic control sample. From the initial 105
laboratories, 90 of them reported results identifying the mutations that they found. 68
laboratories reported the full complement of 32 mutations. Other reports consisted of
mutation counts ranging from 31 mutants to just 5. The majority of testing methods
consisted of OLA or reverse dot blot (Innogenetics), with considerable variability
between laboratory procedures, equipment, reagents, and analysis methods based on
the raw data that was submitted. In two specific cases the synthetic control identified
procedural methodologies that block or hide the signal for the V520F mutation.
Conclusions: Based on the reported results and raw data received from the EQA
scheme, synthetic controls are a useful tool for monitoring quality control and
troubleshooting underperforming assays. The results of this study illustrate the need for
standardization, comprehensive validation, and greater collaboration between testing
laboratories. While there is no single control that is ideal to answer every question, the
thoughtful application of multiple tools and controls will allow for comprehensive and
efficient quality control of complex genetic tests.
ISSN: 1525-1578
Publication status: published
KU Leuven publication type: IMa
Appears in Collections:Biomedical Quality Assurance Research Unit
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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