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
References
Aug 1, 1992·Human Genetics·M C RosatelliG Monni
Aug 9, 1991·Cell·J GrodenM Robertson
May 1, 1991·British Journal of Haematology·R LindemanR J Trent
May 1, 1991·Genomics·J ZielenskiL C Tsui
Dec 30, 1991·Cell·Y H FuS T Warren
Dec 12, 1991·The New England Journal of Medicine·F RousseauM F Croquette
Feb 1, 1990·The New England Journal of Medicine·W K LemnaA L Beaudet
Mar 1, 1994·Genomics·R van der LuijtR Fodde
Feb 5, 1998·Human Mutation·S E Antonarakis
Feb 12, 1998·Annals of Human Genetics·S RendineA Piazza
Oct 22, 1998·European Journal of Human Genetics : EJHG·E Dequeker, J J Cassiman
Jul 11, 2000·Nature Genetics·E Dequeker, J J Cassiman
Dec 7, 2000·European Journal of Human Genetics : EJHG·E DequekerJ J Cassiman
Feb 15, 2001·Cytogenetics and Cell Genetics·K HeldP Miny
Jun 5, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·A MaddalenaD J Wolff
Aug 2, 2001·Human Genetics·J T den Dunnen, S E Antonarakis
Sep 5, 2001·Nature Reviews. Genetics·E DequekerD E Barton
Citations
Feb 7, 2013·Best Practice & Research. Clinical Gastroenterology·Alfredo GuarinoRoberto Berni Canani
Oct 6, 2006·Genetic Testing·Simon C RamsdenSusan A R Stenhouse
May 3, 2008·Genetic Testing·Vincenzo FalboDomenica Taruscio
Mar 25, 2009·Genetic Testing and Molecular Biomarkers·Fabrizio TostoDomenica Taruscio
Feb 9, 2010·Genetic Testing and Molecular Biomarkers·Federica CensiDomenica Taruscio
Nov 14, 2006·Annals of Human Genetics·A DanieleF Salvatore
Jul 3, 2013·Archives of Pathology & Laboratory Medicine·Lisa V KalmanBarbara Zehnbauer
Jul 17, 2013·Gene·Hossam MuradWalid Al-Achkar
Mar 14, 2013·BioMed Research International·F CensiD Taruscio
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
Oct 16, 2016·Journal of Medical Genetics·Vito TerlizziFelice Amato
May 19, 2012·International Journal of Molecular Sciences·Gianluca TerrinRoberto Berni Canani
May 22, 2008·Community Genetics·G FloridiaD Taruscio
Jun 3, 2006·Clinical Chemistry·Simon C RamsdenPaolo Verderio
Jun 22, 2007·Clinical Chemistry·Claudio OrlandoMario Pazzagli
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
Aug 14, 2020·Diagnostics·Alice CastaldoAntonella Tosco
May 16, 2021·Italian Journal of Pediatrics·C CimbaloV Raia