The importance and value of EQA for diagnostic genetic laboratories

Journal of Community Genetics

Volumn 1, Issue 1, 2010, Pages 11-17

  Hastings, Ros J ^a   Howell, Rod T ^a  

^a OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; EXTERNAL QUALITY ASSESSMENT; GENETIC COUNSELING; GENETIC DISORDER; GENETIC RISK; GENETIC SCREENING; GENOME ANALYSIS; GOOD LABORATORY PRACTICE; HUMAN; LABORATORY DIAGNOSIS; PATIENT REFERRAL; PATIENT SAFETY; PRIORITY JOURNAL; PROGNOSIS; QUALITY CONTROL; REVIEW; VALIDATION PROCESS;

EID: 79952356696     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-010-0009-x     Document Type: Review

References (19)

1. American College of Medical Genetics (1999) ACMG standards and guidelines for clinical genetics laboratories, 2nd edn. American College of Medical Genetics, Bethesda
2. Association for Clinical Cytogenetics (2007) Professional guidelines for clinical cytogenetics. Available at http://www.cytogenetics.org.uk
3. Dequeker E, Ramsden S, Grody WW et al (2001) Quality control in molecular genetic testing. Nat Rev Genet 2:717-723 (Pubitemid 33674793)
4. Elles R, Kamarainen O (2009) External quality assessment in molecular genetics. In: Kristofferson U, Schmidtke J, Cassiman JJ (eds) Quality issues in clinical genetic services. Springer, Heidelberg
5. Fowler B, Burlina A, Kozich V, Vianey-Saban C (2008) Quality of analytical performance in inherited metabolic disorders: The role of ERNDIM. J Inherit Metab Dis 31:680-689
6. Hastings RJ (2009) Quality control. In: Volpi E, Bridger J (eds) FISH: methods and applications. Methods in molecular biology series, chapter 25. Humana, New Jersey
7. Hastings RJ, Howell R (2009) Quality in cytogenetics. In: Kristofferson U, Schmidtke J, Cassiman JJ (eds) Quality issues in clinical genetic services. Springer, Heidelberg
8. Hastings RJ, Cavani S, Bricarelli FD et al (2006) Cytogenetic guidelines and quality assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations. ECA Newsletter 17:13-32, Available at http://www.biologia.uniba.it/eca and http:// www.eurogentest.org/
9. Hastings RJ, Cavani S, Bricarelli FD et al (2007) Cytogenetic guidelines and quality assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations. Eur J Hum Genet 15:525-527 (Pubitemid 46681454)
10. Hastings RJ, Maher EJ, Quellhorst-Pawley B, Howell RT (2008) An internet-based external quality assessment (EQA) in cytogenetics that audits a laboratory's analytical and interpretative performance. Eur J Hum Genet 16:1217-1224
11. Howell R, Hastings RJ (2006) The current scope of cytogenetics external quality assessment schemes and key recommendations for harmonization of external quality assessment in Europe. Available at http://www.eurogentest.org/
12. ISCN (2009) In: Shaffer LG, Slovak ML, Campbell LJ (eds) An international system for human cytogenetic nomenclature. Karger, Basel
13. ISO 15189 (2003) Medical laboratories-particular requirements for quality and competence. Available at http://www.iso.org/iso/standards-development/ technical-committees/list-of-iso-technical-committees.htm
14. ISO/IEC Guide 43-1 (1997) Proficiency testing by interlaboratory comparisons-part 1: development and operation of proficiency testing schemes. Available at http://www.iso.org/iso/catalogue
15. McGovern MM, Benach M, Wallenstein S et al (2003) Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States. Arch Pathol Lab Med 127:71-76 (Pubitemid 36236584)
16. OECD (2005) Quality assurance and proficiency testing for molecular genetic testing: survey of 18 OECD member countries. Available at http://www.oecd.org/sti/biotechnology/
17. OECD (2007) OECD guidelines for Quality assurance in molecular genetic testing. Available at http://www.oecd.org/sti/biotechnology/
18. Reinhold U, Hennig E, Leiblein S et al (2003) FISH for BCRABL on interphases of peripheral blood neutrophils but not of unselected white cells correlates with bone marrow cytogenetics in CML patients treated with imatinib. Leukemia 17:1925-1929 (Pubitemid 37322119)
19. Sciacovelli L, Secchiero S, Zardo L, Plebani M (2001) External quality assessment schemes: need for recognised requirements. Clin Chim Acta 309:183-199 (Pubitemid 32601963)