Sheffield, United Kingdom
Sheffield, United Kingdom

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Perry D.J.,University of Cambridge | Cumming T.,University of Manchester | Goodeve A.,Sheffield Childrens NHS Foundation Trust | Hill M.,University of Nottingham | And 3 more authors.
Seminars in Thrombosis and Hemostasis | Year: 2014

Molecular genetic analysis of families with hemophilia and other heritable bleeding disorders is a frequently requested laboratory investigation. In the United Kingdom, laboratories undertaking genetic testing must participate in a recognized external quality assessment scheme for formal accreditation. The UK National External Quality Assessment Scheme (UK NEQAS) for heritable bleeding disorders was established in its current format in 2003, and currently has 27 registered participants in the United Kingdom, the European Union (EU), and the non-EU countries. Two exercises per annum are circulated to participants comprising either whole blood or DNA isolated from cell lines, and laboratories are allowed 6 weeks to analyze the samples and generate a report. Reports are assessed by a panel comprising clinicians and scientists with expertise in this area. Samples to date have involved analysis of the F8 gene (10 exercises), the F9 gene (4 exercises), and the VWF gene (3 exercises) and have comprised a wide spectrum of mutations representing the routine workload encountered in the molecular genetics laboratory. The majority of laboratories in each exercise passed, but a small number did not and reasons for failing included clerical errors, genotyping inaccuracies, and a failure to correctly interpret data. Overall we have seen an improvement in quality of reports submitted for assessment, with a more concise format that will be of value to referring clinicians and counsellors. Informal feedback from participants has been very positive. © 2014 by Thieme Medical Publishers, Inc.


Bolton-Maggs P.H.B.,University of Manchester | Favaloro E.J.,Westmead Hospital | Hillarp A.,Malmö University | Jennings I.,UK NEQAS for Blood Coagulation | And 2 more authors.
Haemophilia | Year: 2012

von Willebrand disease (VWD) is the most common inherited bleeding disorder, but variable severity and several classification types mean that diagnosis is often not straightforward. In many countries, the assays are not readily available and/or are not well standardized. The latest methods and the basis of VWD are discussed here, together with information from the international quality assessment programme (IEQAS). Factor XIII deficiency is a rare, but important bleeding disorder, which may be missed or diagnosed late. A discussion and update on this diagnosis is considered in the final section of our review. © 2012 Blackwell Publishing Ltd.


PubMed | University of Manchester, Sheffield Childrens NHS Foundation Trust, University of Nottingham, UK NEQAS for Blood Coagulation and 2 more.
Type: Journal Article | Journal: Seminars in thrombosis and hemostasis | Year: 2014

Molecular genetic analysis of families with hemophilia and other heritable bleeding disorders is a frequently requested laboratory investigation. In the United Kingdom, laboratories undertaking genetic testing must participate in a recognized external quality assessment scheme for formal accreditation. The UK National External Quality Assessment Scheme (UK NEQAS) for heritable bleeding disorders was established in its current format in 2003, and currently has 27 registered participants in the United Kingdom, the European Union (EU), and the non-EU countries. Two exercises per annum are circulated to participants comprising either whole blood or DNA isolated from cell lines, and laboratories are allowed 6 weeks to analyze the samples and generate a report. Reports are assessed by a panel comprising clinicians and scientists with expertise in this area. Samples to date have involved analysis of the F8 gene (10 exercises), the F9 gene (4 exercises), and the VWF gene (3 exercises) and have comprised a wide spectrum of mutations representing the routine workload encountered in the molecular genetics laboratory. The majority of laboratories in each exercise passed, but a small number did not and reasons for failing included clerical errors, genotyping inaccuracies, and a failure to correctly interpret data. Overall we have seen an improvement in quality of reports submitted for assessment, with a more concise format that will be of value to referring clinicians and counsellors. Informal feedback from participants has been very positive.


Jennings I.,UK NEQAS for Blood Coagulation | Kitchen D.P.,UK NEQAS for Blood Coagulation | Kitchen S.,UK NEQAS for Blood Coagulation | Woods T.A.L.,UK NEQAS for Blood Coagulation | Walker I.D.,UK NEQAS for Blood Coagulation
International Journal of Laboratory Hematology | Year: 2013

Introduction: The APTT is widely employed as part of a coagulation screening panel, used as a pre-operative assessment of bleeding risk, to detect hereditary and acquired haemostatic defects and to monitor anticoagulant therapy. External quality assessment (EQA) exercises assess laboratory performance of individual tests, but rarely assess the approach to investigation of an abnormal result. Methods: A multicentre exercise was carried out to investigate the ability of laboratories to identify the cause of a prolonged APTT. A sample was distributed with a request to carry out whichever tests were considered necessary to achieve a probable diagnosis. Results: One hundred and ten centres in the UK NEQAS programme took part, and all 104 centres providing an interpretation correctly identified deficiency of FVIII in the sample. However, of these, 10 centres reported additional defects, including lupus anticoagulant, FIX deficiency, FXII deficiency and a FVIII inhibitor. Conclusions: A markedly varied approach to investigation of a prolonged APTT was observed, although a lack of clinical information may have contributed to this finding. © 2012 Blackwell Publishing Ltd.


PubMed | UK NEQAS for Blood Coagulation
Type: Journal Article | Journal: International journal of laboratory hematology | Year: 2013

The APTT is widely employed as part of a coagulation screening panel, used as a pre-operative assessment of bleeding risk, to detect hereditary and acquired haemostatic defects and to monitor anticoagulant therapy. External quality assessment (EQA) exercises assess laboratory performance of individual tests, but rarely assess the approach to investigation of an abnormal result.A multicentre exercise was carried out to investigate the ability of laboratories to identify the cause of a prolonged APTT. A sample was distributed with a request to carry out whichever tests were considered necessary to achieve a probable diagnosis.One hundred and ten centres in the UK NEQAS programme took part, and all 104 centres providing an interpretation correctly identified deficiency of FVIII in the sample. However, of these, 10 centres reported additional defects, including lupus anticoagulant, FIX deficiency, FXII deficiency and a FVIII inhibitor.A markedly varied approach to investigation of a prolonged APTT was observed, although a lack of clinical information may have contributed to this finding.

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