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BioMed Research International
Volume 2013 (2013), Article ID 739010, 8 pages
Research Article

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

1National Centre of Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy
2E. O. Ospedali Galliera, S.C. Laboratorio di Genetica, 16128 Genova, Italy
3Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, 09121 Cagliari, Italy
4SOD Diagnostica, AOU Careggi, 50134 Firenze, Italy
5Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy
6Department of Reproduction and Growth, Operative Unit of Medical Genetics, University Hospital S. Anna, Ferrara, Italy
7Department of Public Health, Clinical and Molecular Medicine, University of Cagliari, 09121 Cagliari, Italy
8Dipartimento di Scienze Biomediche ed Oncologia Umana, University of Bari, 70124 Bari, Italy
9Laboratory of Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino, 20135 Milano, Italy
10Laboratorio di Genetica Medica, Fondazione IRCCS Policlinico Ca' Granda Ospedale, Milano, Italy
11Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, Istituto Nazionale per la Ricerca sul Cancro (IST), Genova, Italy

Received 26 October 2012; Revised 21 December 2012; Accepted 28 December 2012

Academic Editor: Ozgur Cogulu

Copyright © 2013 F. Censi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposis Coli (APC). Since 2009 this activity is an institutional activity and participation is open to both public and private laboratories. Seven rounds have been performed until now and the eighth is in progress. Laboratories receive 4 DNA samples with mock clinical indications. They analyze the samples using their routine procedures. A panel of assessors review the raw data and the reports; all data are managed through a web utility. In 2010 the number of participants was 43, 17, 15, 5 for CF, BT, FX, APC schemes respectively. Genotyping results were correct in 96%, 98.5%, 100%, and 100% of CF, BT, FX, and APC samples, respectively. Interpretation was correct in 74%, 91%, 88%, and 60% of CF, BT, FX, and APC reports, respectively; however in most of them it was not complete but a referral to genetic counseling was given. Reports were satisfactory in more than 60% of samples in all schemes. This work presents the 2010 results in detail comparing our data with those from other European schemes.