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

Clinical Chemistry and Laboratory Medicine : CCLM
Domenica TaruscioOrsetta Zuffardi

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, beta-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 beta-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...Continue Reading

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Citations

Feb 7, 2013·Best Practice & Research. Clinical Gastroenterology·Alfredo GuarinoRoberto Berni Canani
Feb 9, 2010·Genetic Testing and Molecular Biomarkers·Federica CensiDomenica Taruscio
Jul 3, 2013·Archives of Pathology & Laboratory Medicine·Lisa V KalmanBarbara Zehnbauer
Jul 14, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Binghuan Weng, Xiao Li
Sep 27, 2013·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Giuseppe CastaldoGermano Guerra
Feb 22, 2007·Clinical Chemistry and Laboratory Medicine : CCLM·Marco SalvatoreDomenica Taruscio
May 19, 2012·International Journal of Molecular Sciences·Gianluca TerrinRoberto Berni Canani
Jun 3, 2006·Clinical Chemistry·Simon C RamsdenPaolo Verderio
Apr 25, 2013·Clinical Chemistry and Laboratory Medicine : CCLM·Giuseppe Maria MaruottiFrancesco Salvatore
Apr 25, 2013·Clinical Chemistry and Laboratory Medicine : CCLM·Rossella TomaiuoloGiuseppe Castaldo
May 16, 2021·Italian Journal of Pediatrics·C CimbaloV Raia

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