The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis

4 Years of activity

Marco Salvatore, Vincenzo Falbo, Giovanna Floridia, Federica Censi, Fabrizio Tosto, Cristina Bombieri, Giuseppe Castaldo, Pier Franco Pignatti, Maria Cristina Rosatelli, Domenica Taruscio

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)254-260
Number of pages7
JournalClinical Chemistry and Laboratory Medicine
Volume45
Issue number2
DOIs
Publication statusPublished - Feb 1 2007

Fingerprint

Cystic Fibrosis
Quality Control
Quality control
Mutation
Public health
Terminology
Oligonucleotides
Italy
Ligation
Assays
Public Health
Alleles
Polymerase Chain Reaction
DNA

Keywords

  • Cystic fibrosis
  • External quality control programme
  • Genetic test

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis : 4 Years of activity. / Salvatore, Marco; Falbo, Vincenzo; Floridia, Giovanna; Censi, Federica; Tosto, Fabrizio; Bombieri, Cristina; Castaldo, Giuseppe; Franco Pignatti, Pier; Cristina Rosatelli, Maria; Taruscio, Domenica.

In: Clinical Chemistry and Laboratory Medicine, Vol. 45, No. 2, 01.02.2007, p. 254-260.

Research output: Contribution to journalArticle

Salvatore, M, Falbo, V, Floridia, G, Censi, F, Tosto, F, Bombieri, C, Castaldo, G, Franco Pignatti, P, Cristina Rosatelli, M & Taruscio, D 2007, 'The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 Years of activity', Clinical Chemistry and Laboratory Medicine, vol. 45, no. 2, pp. 254-260. https://doi.org/10.1515/CCLM.2007.053
Salvatore, Marco ; Falbo, Vincenzo ; Floridia, Giovanna ; Censi, Federica ; Tosto, Fabrizio ; Bombieri, Cristina ; Castaldo, Giuseppe ; Franco Pignatti, Pier ; Cristina Rosatelli, Maria ; Taruscio, Domenica. / The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis : 4 Years of activity. In: Clinical Chemistry and Laboratory Medicine. 2007 ; Vol. 45, No. 2. pp. 254-260.
@article{9b467085f11543c6ac5d661b23713f9e,
title = "The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 Years of activity",
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 Sanit{\`a}) 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.",
keywords = "Cystic fibrosis, External quality control programme, Genetic test",
author = "Marco Salvatore and Vincenzo Falbo and Giovanna Floridia and Federica Censi and Fabrizio Tosto and Cristina Bombieri and Giuseppe Castaldo and {Franco Pignatti}, Pier and {Cristina Rosatelli}, Maria and Domenica Taruscio",
year = "2007",
month = "2",
day = "1",
doi = "10.1515/CCLM.2007.053",
language = "English",
volume = "45",
pages = "254--260",
journal = "Clinical Chemistry and Laboratory Medicine",
issn = "1434-6621",
publisher = "Walter de Gruyter GmbH",
number = "2",

}

TY - JOUR

T1 - The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis

T2 - 4 Years of activity

AU - Salvatore, Marco

AU - Falbo, Vincenzo

AU - Floridia, Giovanna

AU - Censi, Federica

AU - Tosto, Fabrizio

AU - Bombieri, Cristina

AU - Castaldo, Giuseppe

AU - Franco Pignatti, Pier

AU - Cristina Rosatelli, Maria

AU - Taruscio, Domenica

PY - 2007/2/1

Y1 - 2007/2/1

N2 - 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.

AB - 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.

KW - Cystic fibrosis

KW - External quality control programme

KW - Genetic test

UR - http://www.scopus.com/inward/record.url?scp=33847102757&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33847102757&partnerID=8YFLogxK

U2 - 10.1515/CCLM.2007.053

DO - 10.1515/CCLM.2007.053

M3 - Article

VL - 45

SP - 254

EP - 260

JO - Clinical Chemistry and Laboratory Medicine

JF - Clinical Chemistry and Laboratory Medicine

SN - 1434-6621

IS - 2

ER -