Tosto Fabrizio, Salvatore Marco, Falbo Vincenzo, Floridia Giovanna, Censi Federica, Bombieri Cristina, Rosatelli Maria Cristina, Taruscio Domenica
Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Genet Test Mol Biomarkers. 2009 Feb;13(1):31-6. doi: 10.1089/gtmb.2008.0072.
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.
意大利β地中海贫血外部质量评估计划始于2001年，是由意大利卫生部两次资助、由高等卫生研究院协调的一个项目的一部分。迄今为止，已进行了五次试验（2001 - 2004年和2006年）。意大利该计划的目的是帮助公共实验室在进行分子检测时提高并达到高标准的质量。许多实验室参与了这个为期五年的项目，并且在整个期间其参与度保持稳定。本文的目的是描述基因分型和报告结果，以及着重介绍用于检测突变的技术和检测策略。实验室正确检测出了近99%的分析等位基因，而0.33%的分析给出了错误结果。反向点杂交是最常用的技术，并且它始终被实验室用于检测突变所采用的策略中。实验室提交的报告显示出不完整性和异质性；因此，自2004年起引入了一种新的书面报告模式。未来监测报告模式的效果以及这一教育行动的成果将会很有意思。
