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 language | English |
|---|---|
| Pages (from-to) | 254-260 |
| Number of pages | 7 |
| Journal | Clinical Chemistry and Laboratory Medicine |
| Volume | 45 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 1 2007 |
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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 journal › Article
}
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
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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 -