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Clinical Chemistry and Laboratory Medicine (CCLM)

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

Editor-in-Chief: Plebani, Mario

Editorial Board Member: Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

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The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity

Marco Salvatore1 / Vincenzo Falbo2 / Giovanna Floridia3 / Federica Censi4 / Fabrizio Tosto5 / Cristina Bombieri6 / Giuseppe Castaldo7 / Pier Franco Pignatti8 / Maria Cristina Rosatelli9 / Domenica Taruscio10











Corresponding author: Taruscio Domenica, MD, National Centre for Rare Diseases, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161 Rome, Italy Phone: +39-06-49904016, Fax: +39-06-49904370,

Citation Information: Clinical Chemical Laboratory Medicine. Volume 45, Issue 2, Pages 254–260, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2007.053, February 2007

Publication History

July 21, 2006
December 4, 2006


Background: The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis started in 2001; public laboratories distributed throughout Italy participated on a voluntary basis.

Methods: The Italian Public Health Institute (Istituto Superiore di Sanità) sent six validated DNA samples to participating laboratories: technical and clinical information was provided for each sample. Laboratories were required to analyse all six samples. For each sample the laboratories had to provide the results (including raw data) and a report of molecular analysis within 2 months using current methods and nomenclature. Raw data and reports were evaluated by a Steering Committee and their comments were sent to each laboratory.

Results: Genotyping results indicated a general good level of quality for all laboratories, i.e., ∼1% of alleles were incorrectly assigned each year due to analytical (45%) and misinterpretation (45%) errors. During the first 2 years, more than 70% of laboratories did not test for some regional Italian mutations. Commercial kits for reverse dot-blot and oligonucleotide ligation assay PCR were used to detect mutations by 52.8% and 29.5%, respectively, of the participating laboratories. Reporting of results was still inadequate; in 2004 a model for the written report was introduced, but not all laboratories used it.

Conclusions: Our data show that few genotyping errors were made by laboratories and were principally due to misinterpretation and analytical reasons. However, reports are still inadequate and it will be interesting to evaluate the introduction of the reporting model in future years.

Clin Chem Lab Med 2007;45:254–60.

Keywords: cystic fibrosis; external quality control programme; genetic test

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