Commercial kit‐based diagnosis is not enough for prenatal testing of beta‐thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories

Ferlini, Alessandra; Ravani, Anna; Venturoli, A.; Trabanelli, Cecilia; Masieri, M. Taddei; Brandi, Alessandra; Dolcini, B; Rimessi, Paola; Gualandi, Francesca; Calzolari, Elisa

doi:10.1002/pd.1545

Cited by 1 publication

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“…It is best practice for any DNA diagnostic laboratory to have at least two alternative methods for detecting each Hb mutation (Cao et al, 1998;Traeger-Synodinos et al, 2002;Ferlini et al, 2006).…”

Section: Introductionmentioning

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: Introductionmentioning

confidence: 99%