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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

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Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

Domenica Taruscio1 / Vincenzo Falbo2 / Giovanna Floridia3 / Marco Salvatore4 / Chiara Pescucci5 / Alfredo Cantafora6 / Cesarina Marongiu7 / Anna Baroncini8 / Elisa Calzolari9 / Antonio Cao10 / Giuseppe Castaldo11 / Franca Dagna Bricarelli12 / Ginevra Guanti13 / Lucio Nitsch14 / Pier Franco Pignatti15 / Cristina Rosatelli16 / Francesco Salvatore17 / Orsetta Zuffardi18



















Corresponding author: Domenica Taruscio, MD, National Center for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Roma, Italy. Phone: +39 06 4990 2805, Fax: + 39 06 4990 4370, E-mail: ; Current address: Institute of Medical Genetics, University of Siena, Siena, Italy.

Corresponding author: Domenica Taruscio, MD, National Center for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Roma, Italy. Phone: +39 06 4990 2805, Fax: +39 06 4990 4370, E-mail:

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 42, Issue 8, Pages 915–921, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2004.148, June 2005

Publication History

February 12, 2004
May 27, 2004
Published Online:


The first Italian national trial of external quality assessment in genetic testing was organised within the framework of the “Italian National Project for Standardisation and Quality Assurance of Genetic Tests”. Sixty-eight Public Health Service laboratories volunteered for the trial, which involved molecular genetic tests (cystic fibrosis, β-thalassaemia, familial adenomatous polyposis coli and fragile-X syndrome) and cytogenetic tests (prenatal and postnatal, the latter included cancer cytogenetics). The response rate was high (88.2%). The level of analytical accuracy was good, i.e., the percentage of laboratories that correctly genotyped all samples was 89.3% for cystic fibrosis, 90.9% for β-thalassaemia, 100% for familial adenomatous polyposis coli (despite two laboratories did not complete the analysis because the amount of DNA was considered insufficient), and 90.5% for fragile-X syndrome. Written reports differed widely and were judged “inadequate” in over 50% of cases. Most laboratories from the present study already have experience in previous European external quality assessments for at least one genetic test; this can explain the higher analytical accuracy in the Italian external quality assessment with respect to quality control programmes in other countries. Collaborative networks are strongly suggested to improve the quality of the reports.

Keywords: cytogenetics; external quality assurance; molecular genetic tests

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