The Uk National External Quality Assessment Scheme (Uk Neqas) for Molecular Genetic Testing in Haemophilia

Perry, DJ; Goodeve, AC; Hill, Marian; Jennings, Ian; Kitchen, Steve; Walker, Isobel

doi:10.1111/j.1538-7836.2007.tb01883.x

Cited by 13 publications

(20 citation statements)

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“…49,50 It is also difficult to transport potentially infectious whole blood across international borders. 51 DNA extracted from cell lines, which is available in almost unlimited supply, is often substituted as PT/EQA samples. The disadvantage of this practice is that the nucleic acid isolation phase is not performed by the participating laboratory and cannot be evaluated as part of the proficiency testing process.…”

Section: Pt/eqa-the Current Situationmentioning

confidence: 99%

“…These reports are assessed for accuracy of genotyping, the appropriateness of the interpretation and clerical accuracy. 38–40,44,51,57 This allows evaluation of the laboratory’s interpretation of the analytic results in the context of the mock clinical data supplied with the DNA samples and permits assessment of other important elements in the laboratory report, such as residual risk calculations, recommendations for further testing, use of proper genetic nomenclature and accurate inclusion of patient identification such as name, gender and birth date. Correct interpretation of the analytical result is essential because patient management will, in many cases, be based on a combination of the analytic result and the final interpretation.…”

Section: Pt/eqa-the Current Situationmentioning

confidence: 99%

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Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics

Kalman

Lubin

Barker

et al. 2013

Archives of Pathology & Laboratory Medicine

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Context Participation in proficiency testing (PT) or external quality assessment (EQA) programs allows the assessment and comparison of test performance among different clinical laboratories and technologies. In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests which quickly and economically analyze the entire human genome. New PT/EQA approaches are needed to ensure the continued quality of these complex tests. Objective To review the availability and scope of PT/EQA for molecular genetic testing for inherited conditions in Europe, Australasia and the United States; to evaluate the successes and demonstrated value of available PT/EQA programs; and to examine the challenges to the provision of comprehensive PT/EQA posed by new laboratory practices and methodologies. Data Sources The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers. Conclusions PT/EQA schemes are available for common genetic disorders tested in many clinical laboratories, but are not available for most genetic tests offered by only one or a few laboratories. Provision of broad, method-based PT schemes, such as DNA sequencing, would allow assessment of a large number of tests for which formal PT is not currently available. Participation in PT/EQA improves the quality of testing by identifying inaccuracies that laboratories can trace to errors in the testing process. Areas of research and development to ensure that PT/EQA programs can meet the needs of new and evolving genetic tests and technologies are identified and discussed.

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Section: Pt/eqa-the Current Situationmentioning

confidence: 99%

Section: Pt/eqa-the Current Situationmentioning

confidence: 99%

Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics

Kalman

Lubin

Barker

et al. 2013

Archives of Pathology & Laboratory Medicine

View full text Add to dashboard Cite

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“…In countries such as in the United Kingdom (UK), proficiency testing for the diagnosis of haemophilia and thrombophilia is offered by the national external quality assessment scheme (UK-NEQAS) and participation in such programmes is a mandatory requirement for laboratory certification [4,5]. Similar programmes also exist in most developed countries in North America and Western Europe and Australia [6,7].…”

Section: Sample Collectionmentioning

confidence: 99%

Quality issues in laboratory haemostasis

et al. 2010

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Role of external quality assessment in the identification and resolution of assay problemsTests performed in coagulation laboratories play an essential role in the diagnosis and management of patients with familial and acquired bleeding and thrombotic disorders. It is therefore apparent that the generated results should be accurate, reliable and reproducible. This is particularly important in respect of tests undertaken to diagnose, or to exclude, a possible familial disorder.In recent years, there has been a marked increase in the workload and scope of the coagulation laboratory and this has been accompanied by the introduction of increasingly complicated automated equipment employing a variety of different techniques. It is apparent that the potential for error is considerable and for this reason it is essential that the performance of laboratories be monitored through its participation in an external quality assessment (EQA) programme.External quality assessment compares the results obtained from different laboratories on the same sample. It thus provides information in respect of the accuracy of results produced by individual participating laboratories.Participants in an EQA programme receive plasma samples from their EQA provider with instructions to perform specific tests using their usual method. It is important that the EQA samples are not passed on to senior laboratory staff but are tested by the same staff who normally perform the requested test or assay. The results are then returned to the EQA provider for detailed analysis. In most EQA programmes, the distributed samples are lyophilized. It is clearly extremely important that EQA providers ensure that results on the reconstituted lyophilized plasma are similar to those obtained on the native plasma.The assignment of target values for the distributed plasmas is an essential component of any EQA programme and for haemostasis; the overall consensus value is frequently adopted as the target value for EQA participants. However, this approach is not without its problems, particularly in the larger programmes where the number of different reagents, instruments and calibrants is extremely large with major differences being observed in the results obtained with different combinations. For this reason, it is more appropriate to assess results against the peer group median result. An assessment against the overall median is only considered appropriate where the number of laboratories deploying a single method with identical reagents is too small (<10) for statistical analysis or when different methods are known to give the same results.The assessment of laboratory performance by EQA providers is of utmost importance as it enables laboratories to compare their results against those obtained from other laboratories using the same reagents and the same methodology. The identification of unsuspected analytical problems allows laboratories to adjust their procedures and/or change their reagents or their calibrants.It is important for a laboratory to monitor itÕs pe...

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“…An EQA scheme has been established for genetic investigation of haemophilia, details of this scheme are available from UK NEQAS for Blood Coagulation (http://www.ukneqasbc.org). 7 Use of internal controls, especially in the analysis of extended family members is recommended.…”

Section: Analytical Validationmentioning

confidence: 99%