Falbo Vincenzo, Floridia Giovanna, Tosto Fabrizio, Censi Federica, Salvatore Marco, Ravani Anna, Ferlini Alessandra, Melis Maria Antonietta, Grasso Marina, Bricarelli Franca Dagna, Taruscio Domenica
Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, National Centre for Rare Diseases, Rome, Italy.
Genet Test. 2008 Jun;12(2):279-88. doi: 10.1089/gte.2007.0099.
The Italian External Quality Assessment scheme for fragile X syndrome started in 2001 as an activity funded by the National Health System and coordinated by the National Institute of Public Health. The aim of this work is to present the data of 5 years (2001--2004 and 2006) of survey. The External Quality Assessment scheme was designed to cover the following points: (a) genotyping and (b) interpretation and reporting of results. Overall, the scheme covered about 65% of all Italian public laboratories. The average reporting of results was 91.6%, with an overall success rate of 76%. The rate of diagnostic errors observed was on average 5%. Inaccuracy in sizing of CGG repeats of normal and premutated alleles was reported. During the survey the proportion of laboratories using a Southern blotting, polymerase chain reaction, and ABI sizing kit in combination rose from 36.8% to 70.6%. The reports from laboratories showed incompleteness and considerable variations in expected outcomes. For this reason, in 2004 a model for written reports was introduced. In conclusion, these data underscore the need to participate in External Quality Assessment schemes as an educational resource to ensure quality in molecular genetic testing.
意大利脆性X综合征外部质量评估计划始于2001年，是一项由国家卫生系统资助、由国家公共卫生研究所协调的活动。这项工作的目的是展示5年（2001 - 2004年和2006年）的调查数据。外部质量评估计划旨在涵盖以下几点：（a）基因分型，以及（b）结果的解释和报告。总体而言，该计划覆盖了约65%的意大利公共实验室。结果的平均报告率为91.6%，总体成功率为76%。观察到的诊断错误率平均为5%。报告了正常和前突变等位基因CGG重复序列大小测定的不准确情况。在调查期间，同时使用Southern印迹法、聚合酶链反应和ABI大小测定试剂盒的实验室比例从36.8%上升到70.6%。实验室的报告显示存在不完整性以及预期结果的显著差异。因此，在2004年引入了书面报告的模板。总之，这些数据强调了参与外部质量评估计划作为一种教育资源以确保分子基因检测质量的必要性。
