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Clinical Chemistry and Laboratory Medicine (CCLM)

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

Domenica Taruscio
  • National Centre for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy
/ Vincenzo Falbo
  • National Centre for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy
/ Giovanna Floridia
  • National Centre for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy
/ Marco Salvatore
  • National Centre for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy
/ Chiara Pescucci
  • National Centre for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy
/ Alfredo Cantafora
  • Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy
/ Cesarina Marongiu
  • Data management, documentation, library and Editorial Services, Istituto Superiore di Sanità, Rome, Italy
/ Anna Baroncini
  • Service of Medical Genetics, Imola, Italy
/ Elisa Calzolari
  • Institute of Medical Genetics, University of Ferrara, Ferrara, Italy
/ Antonio Cao
  • Institute of Clinical Biology of Evolutive Ages, University of Cagliari, Cagliari, Italy
/ Giuseppe Castaldo
  • CEINGE-Biotecnologie avanzate and Department of Biochemistry and Medical Biotechnology, University “Federico II”, Naples, Italy
/ Franca Dagna Bricarelli
  • Laboratory of Human Genetics, Ospedale Galliera, Genua, Italy
/ Ginevra Guanti
  • Section of Medical Genetics, Department of Internal Medicine and Public Health, University of Bari, Bari, Italy
/ Lucio Nitsch
  • CEINGE-Biotecnologie avanzate and Department of Biochemistry and Medical Biotechnology, University “Federico II”, Naples, Italy
/ Pier Franco Pignatti
  • Section of Biology and Genetics, Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy
/ Cristina Rosatelli
  • Institute of Clinical Biology of Evolutive Ages, University of Cagliari, Cagliari, Italy
/ Francesco Salvatore
  • CEINGE-Biotecnologie avanzate and Department of Biochemistry and Medical Biotechnology, University “Federico II”, Naples, Italy
/ Orsetta Zuffardi
  • Institute of Biology and Medical Genetics, University of Pavia, Pavia, Italy
Published Online: 2005-06-01 | DOI: https://doi.org/10.1515/CCLM.2004.148

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.

Keywords: cytogenetics; external quality assurance; molecular genetic tests

Corresponding author: Domenica Taruscio, MD, National Center for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Roma, Italy. Phone: +39 06 4990 2805, Fax: + 39 06 4990 4370, E-mail: ; Current address: Institute of Medical Genetics, University of Siena, Siena, Italy.

Corresponding author: Domenica Taruscio, MD, National Center for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Roma, Italy. Phone: +39 06 4990 2805, Fax: +39 06 4990 4370, E-mail:


Received: February 12, 2004

Accepted: May 27, 2004

Published Online: 2005-06-01

Published in Print: 2004-08-01


Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 42, Issue 8, Pages 915–921, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2004.148, June 2005

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