title: The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey.
abstract: 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.
authors.affiliation: Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Tosto
authors.forename: Marco
authors.initials: M
authors.lastname: Salvatore
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Falbo
authors.forename: Giovanna
authors.initials: G
authors.lastname: Floridia
authors.forename: Federica
authors.initials: F
authors.lastname: Censi
authors.forename: Cristina
authors.initials: C
authors.lastname: Bombieri
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Rosatelli
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis / Q000379:methods / Q000592:standards* / Q000706:statistics & numerical data; D003625:Data Collection; D003951:Diagnostic Errors; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000592:standards* / Q000706:statistics & numerical data; D005838:Genotype; D006801:Humans; D007558:Italy; D007753:Laboratories / Q000592:standards; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011785:Quality Assurance, Health Care; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control
chemical_list: D055544:beta-Globins