Event - ESHG Conference 2008

EuroGentest will have a booth along with OrphaNet and ESHG at the upcoming meeting in Barcelona. Together with poster presentations, there will be a series of workshops and other activities with a special focus on our aim of making accreditation the norm.

• Workshop on accreditation (30-31 May)
• Workshop on motivation and change (30-31 May)
• Case studies on quality assurance and quality control issues in genetic testing laboratories (31 May)
• Satellite Meeting: "Innovative Techniques in Genome Diagnostics"
• Clinical indication criteria for genetic testing: Monday 2 June, 13.15-14.45
• Workshop: Clinical indication criteria for genetic testing
• Quality control workshop: Sunday 1 June, 13.30-15.30 at the Congress Centre.
  Presentations
  • EQA: a perspective from a participating laboratory (Marta Rodríguez de Alba)
  • EQA overview (R. Elles)
  • The EMQN Huntington’s disease EQA scheme(1997- 2007): 10 years’ lessons and experiences (M Losekoot)
  • Reporting of results: Experience from the CF Network EQA scheme (Sarah Berwouts, Centre for Human Genetics, Leuven, Belgium)

• Analysis of raw data from MLPA-based assays: development of a new web-based software „eMLPA“
• Genotyping of MTHFR 677C>T and 1298A>C variants by high resolution melting of small amplicons: an example of method validation.
• Method validation in cystic fibrosis DNA diagnostics: a basic tool for quality assurance
• Mutation scanning of the CFTR gene by high resolution melting analysis (HRM)
• Thrombophilic gene mutations: two different approaches to the validation of commercial and “in-house” DNA diagnostic assays

• Poster: The cystic fibrosis external quality assessment scheme, monitoring the quality of laboratory performance
• Poster: Quality management and accreditation of genetic testing services
• Poster: Training on quality management to support genetic testing laboratories in continuous improvement and progress towards accreditation

• Pictures: images at the booth