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 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., approximately 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.
authors.affiliation: Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Salvatore
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Falbo
authors.forename: Giovanna
authors.initials: G
authors.lastname: Floridia
authors.forename: Federica
authors.initials: F
authors.lastname: Censi
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Tosto
authors.forename: Cristina
authors.initials: C
authors.lastname: Bombieri
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castaldo
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Rosatelli
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
mesh_terms: D019411:Clinical Laboratory Techniques; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D003951:Diagnostic Errors; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D005838:Genotype; D006801:Humans; D007558:Italy; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000592:standards*; D009154:Mutation; D011786:Quality Control; D011933:Reagent Kits, Diagnostic
chemical_list: C505032:CFTR protein, human; D011933:Reagent Kits, Diagnostic; D019005:Cystic Fibrosis Transmembrane Conductance Regulator