Quality assessment in cytogenetic and molecular genetic testing: The experience of the Italian Project on Standardisation and Quality Assurance

Domenica Taruscio, Vincenzo Falbo, Giovanna Floridia, Marco Salvatore, Chiara Pescucci, Alfredo Cantafora, Cesarina Marongiu, Anna Baroncini, Elisa Calzolari, Antonio Cao, Giuseppe Castaldo, Franca Dagna Bricarelli, Ginevra Guanti, Lucio Nitsch, Pier Franco Pignatti, Cristina Rosatelli, Francesco Salvatore, Orsetta Zuffardi

Research output: Contribution to journalArticlepeer-review

Abstract

The first Italian national trial of external quality assessment in genetic testing was organised within the framework of the " Italian National Project for Standardisation and Quality Assurance of Genetic Tests". Sixty-eight Public Health Service laboratories volunteered for the trial, which involved molecular genetic tests (cystic fibrosis, β-thalassaemia, familial adenomatous polyposis coli and fragile-X syndrome) and cytogenetic tests (prenatal and postnatal, the latter included cancer cytogenetics). The response rate was high (88.2%). The level of analytical accuracy was good, i.e., the percentage of laboratories that correctly genotyped all samples was 89.3% for cystic fibrosis, 90.9% for β-thalassaemia, 100% for familial adenomatous polyposis coli (despite two laboratories did not complete the analysis because the amount of DNA was considered insufficient), and 90.5% for fragile-X syndrome. Written reports differed widely and were judged "inadequate" in over 50% of cases. Most laboratories from the present study already have experience in previous European external quality assessments for at least one genetic test; this can explain the higher analytical accuracy in the Italian external quality assessment with respect to quality control programmes in other countries. Collaborative networks are strongly suggested to improve the quality of the reports.

Original languageEnglish
Pages (from-to)915-921
Number of pages7
JournalClinical Chemistry and Laboratory Medicine
Volume42
Issue number8
DOIs
Publication statusPublished - 2004

Keywords

  • Cytogenetics
  • External quality assurance
  • Molecular genetics tests

ASJC Scopus subject areas

  • Clinical Biochemistry

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