Title: Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories
Authors: Schollen, Els ×
Dequeker, Elisabeth
McQuaid, Shirley
Vankeirsbilck, Bruno
Michils, Geneviève
Harvey, John
van den Akker, Eric
van Schooten, Ron
Clark, Zandra
Schrooten, Stephan
Matthijs, Gert #
Issue Date: Jun-2005
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:25 issue:6 pages:583-592
Abstract: Genetic testing in a clinical diagnostic environment must be subject to rigorous quality control procedures, in order to ensure consistency and accuracy of results. Denaturing high performance liquid chromatography (DHPLC) has become a standard prescreening tool for mutation detection, offering very high efficiency and sensitivity of detection. Despite the relatively simple software-assisted assay setup, DHPLC is a complex assay, and quality control is reliant on ensuring optimal instrument performance, excellent assay design and validation, and sufficient user training and proficiency to interpret results. We describe here a unique collaborative effort by a group of diagnostic clinical genetics laboratories with DHPLC expertise who, together with the manufacturer of one of the most widely used DHPLC platforms, have generated standard operating procedures (SOPs) for instrument operation and maintenance, and for mutation detection by DHPLC. We also describe the validation of a disease-specific SOP for DHPLC assisted mutation screening of the MECP2 gene associated with Rett syndrome. The proposed SOP was validated, and used independently in two laboratories to introduce MECP2 testing. In addition, we provide empirically derived normal ranges for the WAVE System Mutation Standards, which are essential for optimal instrument performance. This effort was initiated to try to standardize DHPLC-based mutation screening procedures across laboratories, and so increase the overall quality of this testing method. This endeavor will thus save each laboratory from having to generate SOPs on their own, which is a lengthy and laborious task. In this respect, we define "generic" SOPs as procedures that are easily adaptable to the individual laboratories' quality systems.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Biomedical Quality Assurance Research Unit
× corresponding author
# (joint) last author

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