Skip to main content

External Quality Assessment in Molecular Genetic Testing

  • Chapter
  • First Online:
  • 712 Accesses

Key Points

• Approaches to organising EQA schemes

• Assessment of laboratory performance

• Feedback and learning lessons from EQA

• Future of EQA in molecular genetics

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  • Ahmed-Nejad P, Dorn-Beineke A, Pfeiffer U, Brade J, Geilenkeuser WJ, Ramsden S, Pazzagli M, Neumaier M. Methodological European external quality assurance for DNA sequencing: the EQUALseq program. Clin Chem 2006; 52: 716–727.

    Article  Google Scholar 

  • Dequeker E, Ramsden S, Grody WW, Stenzel TT, Barton DE. Quality control in molecular genetic testing. Nat Rev Genet 2001; 7: 717–722.

    Article  Google Scholar 

  • EuroGentest Quality Assurance Database. http://www.eurogentest.org/QAuDatabase/, Accessed January 2008.

  • European Union Institute for Reference Materials and Measurements. http://irmm.jrc.ec.europa.eu/html/homepage.htm, Accessed January 2008.

  • ISO 15189:2007 Medical Laboratories – Particular Requirements for Quality and Competence.

    Google Scholar 

  • ISO/IEC 17025:2005 General Requirements for the Competence of Testing and Calibration Laboratories.

    Google Scholar 

  • ISO 43 ISO/IEC Guide 43-1:1997 Proficiency Testing by Interlaboratory Comparisons – Part 1: Development and Operation of Proficiency Testing Schemes.

    Google Scholar 

  • IVDD Directive 98/79/EC of the European Parliament and of the Council of 27 October 1998 on in vitro diagnostic medical devices. (1998) Official J L 331, 1–37.

    Google Scholar 

  • OECD Guidelines for Quality Assurance in Molecular Genetic Testing. http://www.oecd.org/dataoecd/43/6/38839788.pdf, Accessed January 2008.

  • Orlando C, Verderio P, Maatman R, Denneberg J, Ramsden S, Neumaier M, Taruscio D, Falbo V, Jansen R, Casini-Raggi C, Malentachhi F, Marubini E, Pizzamiglio S, Vernelen K, Libeer JC, Palicka V, Pazzagli M. EQUAL-qual: a European programme for external quality assessment of genomic DNA extraction and PCR amplification. Clin Chem 2007; 53: 1349–1357.

    Article  CAS  PubMed  Google Scholar 

  • Patton S, Wallace A, Elles R. Benchmark for evaluating the quality of DNA sequencing: proposal from an international external quality assessment scheme. Clin Chem 2006; 52: 728–736.

    Article  CAS  PubMed  Google Scholar 

  • The United Kingdom National External Quality Assessment Scheme (UKNEQAS) for Molecular Genetics. http://www.ukneqas-molgen.org.uk, Accessed January 2008.

  • The UK Genetic Testing Network. http://www.ukgtn.nhs.uk/gtn/Home, Accessed January 2008.

  • The UK National Institute for Biological Standards and Controls. http://www.nibsc.ac.uk/, Accessed January 2008.

  • The US National Institute for Standards in Technology. http://www.nist.gov/, Accessed January 2008.

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Rob Elles .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer Science+Business Media B.V.

About this chapter

Cite this chapter

Elles, R., Kämäräinen, O. (2010). External Quality Assessment in Molecular Genetic Testing. In: Kristoffersson, U., Schmidtke, J., Cassiman, J. (eds) Quality Issues in Clinical Genetic Services. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-3919-4_29

Download citation

Publish with us

Policies and ethics