The Italian External Quality Assessment Scheme in Classical Cytogenetics: Four Years of Activity

Floridia, Giovanna; Falbo, Vincenzo; Censi, Federica; Tosto, Fabrizio; Salvatore, Marco; Baroncini, Anna; Battaglia, P.; Conti, Anna; Donti, Emilio; Starza, Roberta La; Nitsch, Lucio; Pierluigi, Mauro; Piombo, Giuseppe; Susca, Francesco; Mancini, Marco; Mecucci, Christina; Calzolari, Elisa; Bricarelli, Franca Dagna; Guanti, Ginevra; Taruscio, Domenica

doi:10.1159/000121401

Cited by 2 publications

(1 citation statement)

References 16 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%

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%

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 External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience

Censi

Falbo

Floridia

et al. 2010

Genetic Testing and Molecular Biomarkers

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Familial adenomatous polyposis is a rare autosomal dominant inherited disease (incidence, 1/8000). More than 90% of families affected by familial adenomatous polyposis have a mutation in the tumor suppressor gene adenomatous polyposis coli (APC). Mutations in this gene are characterized by 100% penetrance, although there is a variation in phenotypic expression of the disease. According to a 2004 survey of the Italian Human Genetic Society, about 264 APC gene molecular genetic tests were performed by Italian laboratories per year. The Italian External Quality Assessment (IEQA), financially supported by the Ministry of Health and coordinated by the Istituto Superiore di Sanità, was started in 2000 to improve the quality of molecular genetic tests in Italy. In the frame of the IEQA, about 50% of public laboratories performing APC gene tests have been monitored. The number of responding public laboratories during the 5 years was 6, 7, 7, 7, and 5 from 2001 to 2006, respectively; on average, 96.3% of samples completely analyzed were correctly genotyped. Methods used by laboratories to detect mutation were direct sequencing, single-strand conformation polymorphism, protein truncation test, and denaturing high-performance liquid chromatography. Written reports were not homogeneous among laboratories, although a new form of written report was proposed to laboratories in 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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The Italian External Quality Assessment Scheme in Classical Cytogenetics: Four Years of Activity

Cited by 2 publications

References 16 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

The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience

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