Quality Management and EQA of Molecular Genetic Testing

EQA Scheme Directory - Molecular Genetic Testing

• Constitutional mutations
• Methodological EQA
• Addresses of contacts
• Acknowledgements

Best Practice Guidelines - Molecular Genetic Testing

• Disease-specific guidelines
• Non disease-specific guidelines
• List of institutions

Other Documents

• Best practice guideline: General guideline for human genetics (2011) - German GfH/BVDH
• Best practice guideline: SCA
  EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
• Cystic fibrosis diagnostic testing: When good CF tests go bad
• Discussion document: High throughput single nucleotide polymorphism genotyping, quality assurance needs in the Industrial, Academic and Clinical sectors
  Quality assurance needs in the Industrial, Academic and Clinical sectors.
• Guideline: A standardized framework for the validation and verification of clinical molecular genetic tests
  The validation and verification of laboratory methods and procedures before their use in clinical testing is essential for providing a safe and useful service to clinicians and patients. This paper outlines the principles of validation and verification in the context of clinical human molecular genetic testing. We describe implementation processes, types of tests and their key validation components, and suggest some relevant statistical approaches that can be used by individual laboratories to ensure that tests are conducted to defined standards.
• Guideline: Draft best practice and template document - Organisation of Molecular Genetic EQA Schemes
  A draft/template document for best practice guidelines
• Guidelines and standards related to Quality Management
  A list of important guidelines and standards related to quality management in laboratories
• Newsletter 19- October 2011
  Newsletter 19- October 2011
• Newsletter December 2011
  Newsletter December 2011
• Newsletter January 2012
• Newsletter September 2011
  Newsletter September 2011
• Nijmegen 2012 Program
  Nijmegen 2012 Program
• November Newsletter 2011
• Publication: Benchmarks for Cystic Fibrosis carrier screening: A European consensus document
• Publication: Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis.

Future events

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No events scheduled

Past Events

16 Jun 2010	Best practice meeting: Neurofibromatosis Type 1
02 Oct 2009	Best practice meeting: Hereditary Deafness (DFNB1)
23 Jun 2009	Best practice meeting: Congenital Adrenal Hyperplasia (genetic diagnostics)
14 Nov 2008	Best practice meeting: Duchene and Becker muscular dystropies
31 Oct 2008	Best Practice Meeting: Myotonic Dystrophy (DM) - Diagnostic Molecular Genetics
22 Sep 2008	Best Practice Meeting: Long QT Syndrome (LQT) - Diagnostic Molecular Genetics
24 Oct 2007	Best practice meeting: Breast Cancer (WP1.3)
18 Oct 2007	Best practice meeting: Spino Cerebellar Ataxia (WP1.3)
21 May 2007	Best Practice Meeting: Maturity Onset Diabetes of the Young (MODY) (WP1.3)
17 Feb 2006	Meeting on the situation of External Quality Assessment for molecular genetic testing in Europe (WP1.3)
04 Dec 2005	Best practice in molecular genetic testing EQA and EMQN assessors meeting
10 Nov 2005	Molecular Genetic Testing EQA Scheme Providers meeting