{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:42:26Z","timestamp":1773268946247,"version":"3.50.1"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The first Italian national trial of external quality assessment in genetic testing was organised within the framework of the \u201cItalian National Project for Standardisation and Quality Assurance of Genetic Tests\u201d. Sixty-eight Public Health Service laboratories volunteered for the trial, which involved molecular genetic tests (cystic fibrosis, \u03b2-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 \u03b2-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 \u201cinadequate\u201d 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.<\/jats:p>","DOI":"10.1515\/cclm.2004.148","type":"journal-article","created":{"date-parts":[[2004,8,16]],"date-time":"2004-08-16T14:41:36Z","timestamp":1092667296000},"source":"Crossref","is-referenced-by-count":19,"title":["Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance"],"prefix":"10.1515","volume":"42","author":[{"given":"Domenica","family":"Taruscio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Falbo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Floridia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Salvatore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Pescucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Cantafora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesarina","family":"Marongiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Baroncini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Calzolari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Castaldo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franca Dagna","family":"Bricarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ginevra","family":"Guanti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucio","family":"Nitsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pier Franco","family":"Pignatti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Rosatelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Salvatore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref141","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/geno.1994.1119","article-title":"der Rapid detection of translation - terminating mutations at the adenomatous polyposis coli APC gene by direct protein truncation test","volume":"20","author":"Van","year":"1994","journal-title":"Genomics"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/0888-7543(91)90503-7","article-title":"Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator CFTR gene","volume":"10","author":"Zielenski","year":"1991","journal-title":"Genomics"},{"key":"ref111","first-page":"325","article-title":"Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation","volume":"81","author":"Rousseau","year":"1991","journal-title":"Engl J Med"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1093\/clinchem\/45.7.957","article-title":"Detection of five rare cystic fibrosis mutations peculiar to southern Italy : implications in screening for the disease and phenotype characterization for patients with homozygote mutations","volume":"45","author":"Castaldo","year":"1999","journal-title":"Clin Chem"},{"key":"ref91","first-page":"89","article-title":"Molecular screening and fetal diagnosis of beta - thalassemia in the Italian population","volume":"9","author":"Rosatelli","year":"1992","journal-title":"Hum Genet"},{"key":"ref61","first-page":"91","article-title":"The long - term effect of external quality assessment on performance in service cytogenetics","volume":"7","author":"Held","year":"2000","journal-title":"Cytogenet Cell Genet"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/sj.ejhg.5200195","article-title":"Evaluation of CFTR gene mutation testing methods in diagnostic laboratories : report of a large European external quality assessment","volume":"136","author":"Dequeker","year":"1998","journal-title":"Eur J Hum Genet"},{"key":"ref131","first-page":"66","article-title":"Identification and characterization of the familial adenomatous polyposis coli gene","author":"Groden","year":"1991","journal-title":"Cell"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O","article-title":"Recommendations for a nomenclature system for human gene mutations Nomenclature Working Group","volume":"11","author":"Antonarakis","year":"1998","journal-title":"Hum Mutat"},{"key":"ref221","first-page":"322","article-title":"Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis","volume":"6","author":"Lemna","year":"1990","journal-title":"Engl J Med"},{"key":"ref161","first-page":"109","article-title":"den Nomenclature for the description of human sequence variations","volume":"4","author":"Dunnen","year":"2001","journal-title":"Hum Genet"},{"key":"ref121","first-page":"67","article-title":"Variation of the CGG repeat at the fragile X site results in genetic instability : resolution of the Sherman paradox","volume":"58","author":"Fu","year":"1991","journal-title":"Cell"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1017\/S0003480097006477","article-title":"Genetic history of cystic fibrosis mutations in Italy I Regional distribution","volume":"61","author":"Rendine","year":"1997","journal-title":"Ann Hum Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/77008","article-title":"Genetic testing and quality control in diagnostic laboratories","volume":"25","author":"Dequeker","year":"2000","journal-title":"Nat Gen"},{"key":"ref21","doi-asserted-by":"crossref","DOI":"10.1038\/sj.ejhg.5200487","article-title":"Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis","volume":"8","author":"Dequeker","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"ref101","first-page":"78","article-title":"Polymerase chain reaction PCR mutagenesis enabling rapid non - radioactive detection of common beta - thalassaemia mutations in Mediterraneans","volume":"4","author":"Lindeman","year":"1991","journal-title":"Br J Haematol"},{"key":"ref211","first-page":"127","article-title":"Quality assurance in human molecular genetics testing : status and recommendations","volume":"8","author":"Williams","year":"2003","journal-title":"Arch Pathol Lab Med"},{"key":"ref191","article-title":"editor cytogenetics , supplement to an international system for human cytogenetic nomenclature Karger","author":"MiteIman","year":"1991","journal-title":"ISCN Cancer"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/35088588","article-title":"Quality control in molecular genetic testing","volume":"2","author":"Dequeker","year":"2001","journal-title":"Nat Rev Genet"},{"key":"ref181","article-title":"editor An international system for human cytogenetic nomenclature Karger","author":"MiteIman","year":"1995","journal-title":"ISCN"}],"container-title":["Clinical Chemistry and Laboratory Medicine (CCLM)"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/cclm.2004.42.issue-8\/cclm.2004.148\/cclm.2004.148.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2004.148\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T22:43:33Z","timestamp":1619045013000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2004.148\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1,1]]},"references-count":20,"journal-issue":{"issue":"8"},"URL":"https:\/\/doi.org\/10.1515\/cclm.2004.148","relation":{},"ISSN":["1437-4331","1434-6621"],"issn-type":[{"value":"1437-4331","type":"electronic"},{"value":"1434-6621","type":"print"}],"subject":[],"published":{"date-parts":[[2004,1,1]]}}}