External quality assurance of molecular analysis of haemochromatosis gene mutations

Hertzberg, Mark; Neville, Sue; McDonald, David

doi:10.1136/jcp.2005.026005

Cited by 13 publications

(10 citation statements)

References 14 publications

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“…Thus, during recent years, a growing interest in quality assurance and genetic testing has been addressed. Both in Europe and in United States, several organizations funded by international groups, national governments, and private subscriptions have developed EQA for different genetic disorders (Dequeker et al, 2001;Ibarreta et al, 2004;Mueller et al, 2004;Taruscio et al, 2004;Hertzberg et al, 2006; Ramsden et al, 2006;Salvatore et al, 2007;Falbo et al, 2008;Floridia et al, 2008). The I-EQA for b-thalassemia represents a 5-year experience within the EQA in molecular genetics and cytogenetics (Taruscio et al, 2004).…”

Section: Discussionmentioning

confidence: 99%

“…Genotyping errors have been recorded in other EQA schemes for different genetic diseases; for example, the observed error rate in cystic fibrosis EQA was 0.7% in Italy (Salvatore et al, 2007) while fluctuated from 1.3% to 3.8% in Europe (Dequeker and Cassiman, 2000); for hemochromatosis gene, EQA error rate ranged from 0% to 8.7% (Hertzberg et al, 2006); in thrombophilia gene mutations, EQA error rate was estimated between 1% and 3% (Hertzberg et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

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The Italian Scheme of External Quality Assessment for β-Thalassemia: Genotyping and Reporting Results and Testing Strategies in a 5-Year Survey

Tosto

Salvatore

Falbo

et al. 2009

Genetic Testing and Molecular Biomarkers

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The Italian scheme of External Quality Assessment for beta-thalassemia started in 2001 as part of a project twice funded by the Italian Ministry of Health and coordinated by the Istituto Superiore di Sanità. To date, five trials have been performed (2001-2004 and 2006). The aim of the Italian scheme is to help public laboratories in improving and reaching a high standard of quality when performing a molecular test. Many laboratories took part in the 5-year project, and their participation was constant during the whole period. The aims of this paper are to describe the genotyping and reporting results as well as focusing on the techniques and the testing strategies adopted to detect mutations. Almost 99% of the alleles analyzed were correctly detected by laboratories, while 0.33% of the analyses gave a wrong result. Reverse dot blot was the most used technique, and it was always used in the strategies adopted by laboratories to detect mutations. The reports sent by laboratories showed incompleteness and heterogeneity; thus, a new model for written reports has been introduced since 2004. It will be interesting to monitor the effects of the reporting model and the output of this educational action in the future.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The Italian Scheme of External Quality Assessment for β-Thalassemia: Genotyping and Reporting Results and Testing Strategies in a 5-Year Survey

Tosto

Salvatore

Falbo

et al. 2009

Genetic Testing and Molecular Biomarkers

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“…The Italian Committee for the Standardization of Laboratory Tests reported a 4.9–17.0% error rate for Factor V Leiden and 4.9–19.5% error rate for Factor II G20210 identification [ 15 ]. The Royal College of Pathologists of Australasia reported a 98.63% success rate for Factor V and Factor II mutation identification but found large variations between laboratories: 51% made ≥ 1 error and 3 of 39 laboratories were responsible for nearly half the reported errors [ 16 ]. Results of genetic analyses can impact clinical decision making and patient levels of concern, thus testing laboratories should adhere to a high level of internal quality control and participate in external quality assurance programs [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

Multiplex testing for Factor II and Factor V mutations in thrombophilia: technical verification and clinical validation of the cobas® Factor II and Factor V test

Longshore

DeMartin

et al. 2018

J Thromb Thrombolysis

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Laboratory testing for thrombophilia is complicated but essential for diagnosis. In 2017, the cobas® Factor II and Factor V Test (cobas F2F5 test) was launched for use with the cobas z 480 analyzer. This qualitative polymerase chain reaction test enables multiplex Factor II and Factor V testing with flexible reporting and workflow efficiency. Here, we report the results from studies investigating the performance of the cobas F2F5 test. Technical performance verification, clinical validation, external laboratory performance, and workflow comparison studies were performed. Fresh and frozen whole-blood and genomic DNA (gDNA) samples were tested, and several manual and automated DNA isolation methods were used. Bidirectional Sanger sequencing was used to verify genotypes identified by the cobas F2F5 test. One hundred percent agreement between the cobas F2F5 test and Sanger sequencing was observed for all genotypes. An external laboratory using remnant clinical samples also yielded 100% agreement between cobas F2F5 test results and their routine testing method. The cobas F2F5 test reduced the total sample processing time compared with the LightCycler® 1.2 platform (98.6 vs 420.2 min; 96 samples). Hemoglobin, extraction buffer, and ethanol contamination of the gDNA sample can lead to invalid results. The cobas F2F5 test has a high degree of accuracy for identification of Factor II and Factor V genotypes. This multiplex testing with short sample processing time can reduce handling errors and increase efficiency. Both manual and automated DNA isolation methods can be used with the cobas F2F5 test.Electronic supplementary materialThe online version of this article (10.1007/s11239-018-1745-8) contains supplementary material, which is available to authorized users.

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“…This has been carried out by Dequeker et al (2001), who provided a direct comparison of identified error rates in cystic fibrosis genotyping between 1996 and 2000 of 1.3-3.8% (across Europe), 0-0.9% (UKNEQAS, this scheme) and 1.5% (United States). EQA schemes designed to address specifically the question of analytical accuracy in molecular genetic testing consistently identify errors (Hofgartner and Tait 1999;Loosekoot et al 1999;Preston et al 1999;Tripodi et al 2002;Mueller et al 2004;Hertzberg et al 2006). Indeed, complete genotyping accuracy within the context of an EQA scheme would appear to be the exception rather than the rule (Lutz et al 1998).…”

Section: The Ukneqas For Molecular Genetics 153mentioning

confidence: 94%

Monitoring Standards for Molecular Genetic Testing in the United Kingdom, The Netherlands, and Ireland

et al. 2006

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Molecular genetic techniques have entered many areas of clinical practice. Public expectations from this technology are understandably high. To maintain confidence in this technology, laboratories must implement the highest standards of quality assurance (QA). External quality assessment (EQA) is recognized as an essential component of QA. The United Kingdom National External Quality Assessment Service (UKNEQAS) for Molecular Genetics, first set up in 1991, is currently the longest provider of EQA to molecular genetic testing laboratories in the UK, The Netherlands, and Ireland. Errors in the scheme are sporadic events. However, evidence from this and other EQA schemes suggests that a residual error rate persists, which should be taken into account in clinical practice. This EQA scheme has evolved from the respective scientific bodies of the constituent countries and retains a strong emphasis on collective peer review. It is essential that the steps taken to ensure quality in this rapidly expanding field are clear and transparent to participants and public alike. We describe the procedures developed and the governance imposed to monitor and improve analytical and reporting standards in participant laboratories and we compare our experiences with those of equivalent EQA services in the United States.

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External quality assurance of molecular analysis of haemochromatosis gene mutations

Cited by 13 publications

References 14 publications

The Italian Scheme of External Quality Assessment for β-Thalassemia: Genotyping and Reporting Results and Testing Strategies in a 5-Year Survey

The Italian Scheme of External Quality Assessment for β-Thalassemia: Genotyping and Reporting Results and Testing Strategies in a 5-Year Survey

Multiplex testing for Factor II and Factor V mutations in thrombophilia: technical verification and clinical validation of the cobas® Factor II and Factor V test

Monitoring Standards for Molecular Genetic Testing in the United Kingdom, The Netherlands, and Ireland

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