Thromb Haemost 2006; 96(05): 597-601
DOI: 10.1160/TH06-06-0323
Theme Issue Article
Schattauer GmbH

The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia

David J. Perry
1   Department of Haematology, Addenbrookes Hospital, Cambridge, UK
,
Anne Goodeve
2   Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
,
Marian Hill
3   University Hospital, Queens Medical Centre, Nottingham, UK
,
Ian Jennings
4   UK NEQAS for Blood Coagulation, Sheffield, UK
,
Steve Kitchen
5   Department of Coagulation, Royal Hallamshire Hospital, Sheffield, UK
,
Isobel Walker
6   Department of Haematology, Glasgow Royal Infirmary, Glasgow, UK
,
UK NEQAS for Blood Coagulation › Institutsangaben
Weitere Informationen

Publikationsverlauf

Received 13. Juni 2006

Accepted after revision 05. September 2006

Publikationsdatum:
01. Dezember 2017 (online)

Summary

Molecular genetic analysis of families with haemophilia and other inherited bleeding disorders is nowa common laboratory investigation. In contrast to phenotypic testing in which strict quality control is adhered to, in haemophilia molecular genetic testing there has been a lack of any external quality assurance schemes. In 1998 the UK National External Quality Assessment Scheme (UK NEQAS) established a pilot quality assurance scheme for molecular genetic testing in haemophilia. Results from three initial surveys highlighted problems with the quality of samples when used to screen for the intron 22 inversion within the F8 gene. The scheme was re-launched in 2003, and since that time there have been five exercises involving whole blood or immortalised cell line DNA. The results together with an overall summary of the exercise are subsequently returned to participants. Exercises to date have focused exclusively on haemophilia A and QA, material has included screening for the intron 1 and intron 22 inversions as well as sequence analysis. A paper exercise circulated in 2003 highlighted problems with the format of reports and, following feedback to participants, onlya single error has been made in the subsequent four exercises. Participating laboratories now receive QA material every six months. Immortalised cell line material was introduced in 2005 and was shown to perform well. This will allow expansion of the scheme and a reduction in the dependence on blood donation.

 
  • References

  • 1 Preston FE, Kitchen S, Jennings I. et al. A UK National External Quality Assessment scheme (UK Neqas) for molecular genetic testing for the diagnosis of familial thrombophilia. Thromb Haemost 1999; 82: 1556-7.
  • 2 Tripodi A, Peyvandi F, Chantarangkul V. et al. Relatively poor performance of clinical laboratories for DNA analyses in the detection of two thrombophilic mutations--a cause for concern. Thromb Haemost 2002; 88: 690-1.
  • 3 Mueller CR, Kristoffersson U, Stoppa-Lyonnet D. External quality assessment for mutation detection in the BRCA1 and BRCA2 genes. EMQN’s experience of 3 years Ann Oncol 2004; 15 (Suppl. 01) I14-I17.
  • 4 Hertzberg M, Neville S, Favaloro E. et al. External quality assurance of DNA testing for thrombophilia mutations. Am J Clin Pathol 2005; 123: 189-93.
  • 5 Dequeker E, Cassiman JJ. Genetic testing and quality control in diagnostic laboratories. Nat Genet 2000; 25: 259-60.
  • 6 EMQN. Available at http://www.emqn.org/emqn/EQA/ Last accessed September 6, 2006.
  • 7 Keeney S, Mitchell M, Goodeve A. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors’ organization haemophilia genetics laboratory network. Haemophilia 2005; 11: 387-97.
  • 8 Kernoff PB, Lee CA, Karayiannis P. et al. High risk of non-A non-B hepatitis after afirst exposure to volunteer or commercial clotting factor concentrates: effects of prophylactic immune serum globulin. BrJ Haematol 1985; 60: 469-79.
  • 9 Darby SC, Ewart DW, Giangrande PL. et al. Mortality before and after HIV infection in the complete UK population of haemophiliacs. UK Haemophilia Centre Directors’ Organisation. Nature 1995; 377: 79-82.
  • 10 Antonarakis SE, Rossiter JP, Young M. et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995; 86: 2206-12.
  • 11 Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998; 92: 1458-9.
  • 12 Rossetti LC, Radic CP, Larripa IB. et al. Genotyping the hemophilia inversion hotspot by use of inverse PCR. Clin Chem 2005; 51: 1154-8.
  • 13 Bagnall RD, Waseem N, Green PM. et al. Recurrent inversion breaking intron 1 of the factorVIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
  • 14 Payne S. Available at http://www.cmgs.org/BPG/Archives/2nd_ed/report-writing.htm Last accessed September 6, 2006.
  • 15 Ludlam CA, Pasi KJ, Bolton-Maggs P. et al. A framework for genetic service provision for haemophilia and other inherited bleeding disorders. Haemophilia 2005; 11: 145-63.
  • 16 den Dunnen J. Available at http://www.hgvs.org/mutnomen/ Last accessed September 6, 2006.