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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

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

12 Issues per year


IMPACT FACTOR 2016: 3.432

CiteScore 2016: 2.21

SCImago Journal Rank (SJR) 2016: 1.000
Source Normalized Impact per Paper (SNIP) 2016: 1.112

Online
ISSN
1437-4331
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Volume 45, Issue 2 (Feb 2007)

Issues

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

Marco Salvatore
  • Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
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/ Vincenzo Falbo
  • Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
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/ Giovanna Floridia
  • Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
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/ Federica Censi
  • Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
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/ Fabrizio Tosto
  • Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
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/ Cristina Bombieri
  • Department of Mother and Child and Biology-Genetics, Biology and Genetics Section, University of Verona, Verona, Italy
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/ Giuseppe Castaldo
  • CEINGE-Biotecnologie avanzate, scarl and SEMM Department of Biochemistry and Biotechnology, University of Naples “Federico II”, Naples, Italy
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/ Pier Franco Pignatti
  • Department of Mother and Child and Biology-Genetics, Biology and Genetics Section, University of Verona, Verona, Italy
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/ Maria Cristina Rosatelli / Domenica Taruscio
  • Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
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Abstract

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

About the article

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,


Received: July 21, 2006

Accepted: December 4, 2006

Published in Print: 2007-02-01


Citation Information: Clinical Chemical Laboratory Medicine, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2007.053.

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