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EuroGentest platform: Current Activities

Summary

In the past years we have performed several evaluation and validation studies including methods for automated DNA extraction, CNV detection (for BRCA1) by Multiplex Ligation-dependent Probe Amplification (MLPA), fetal sexing on cell free fetal DNA using the Pyrophosphorolysis Activated Polymerization-mediated PCR-assay (PAP-Assay) and high throughput mutation detection analysis using Conformation Sensitive Capillary Electrophoresis (CSCE) and different High-Resolution Melting Curve analysis (HR-MCA) platforms. Moreover we collaborated with the NGRL in a multi-centre assessment of the Abbott Molecular Fragile X analyte specific reagent (ASR) kit and the decision-support software Alamut for the evaluation of newly found mutations.

HR-MCA; 3 platforms

Three different platforms have been evaluated for the HR-MCA, that is the LightScanner (Idaho Technology), the Lightcycler 480 (Roche Diagnostics) and the Rotorgene 6000 (Corbett). Both the LightScanner and Lightcycler studies validate a set up for the mutation scan of the BRCA1 gene. The Roche platform also includes a set up for the BRCA2 gene. All our validation studies are carried out in close collaboration with the companies that supply the equipment and consumables and all these studies are performed in at least three accredited diagnostics laboratories of the EuroGentest NoE including the NGRL.
We have now completed the HR-MCA evaluation and validation study of the LightScanner platform of Idaho Technology and have started since in April 2007 with the Roche 480 Lightcycler study. Both studies include the evaluation of more than 150 variants per gene and a similar amount of wt DNA samples. Results and other details will be reported at the "Current Test Trials" of the ‘New Technologies’ Webpage.

Aim

In all studies we aim to asses the sensitivity and specificity of the techniques by using a large panel of accredited DNA samples. Moreover we address other issues like robustness, repeatability, reproducibility and inter-laboratory reproducibility. Finally, if applicable, we assess the quality and usage of the supplied software analysis tools and its report output format. In the end with we will generate generic SOPs that can be applied by other diagnostic laboratories to set up these new technologies.
Meanwhile, we will continue to recruit new technologies that can improve genetic testing. Therefore, next year in Vienna we will organize our 4th Satellite meeting on 'Innovative Techniques in Genome Diagnostics' at the ESHG 2009. If you are interested and want to get the opportunity to present your new technique in genome testing at this Satellite meeting, just fill in the application form or contact us through email account:

Last changed: 2008-10-10