{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:55:31Z","timestamp":1791831331993,"version":"4.3.4"},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T00:00:00Z","timestamp":1653264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>External quality assurance (EQA) is crucial to monitor and improve the quality of biochemical genetic testing. ERNDIM (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.erndim.org\">www.erndim.org<\/jats:ext-link>), established in 1994, aims at reliable and standardized procedures for diagnosis, treatment and monitoring of inherited metabolic disease (IMD) by providing EQA schemes and educational activities. Currently, ERNDIM provides 16 different EQA schemes including quantitative schemes for various metabolite groups, and interpretive schemes such as diagnostic proficiency testing (DPT). DPT schemes focus on the ability of laboratories to correctly identify and interpret abnormalities in authentic urine samples across a wide range of IMDs. In the DPT schemes, six samples each year are distributed together with clinical information. Laboratories choose and perform the tests needed to reach a diagnosis. Data were collected on 345 samples, distributed to up to 105 laboratories worldwide. Diagnostic proficiency (the % of total points possible for all participating laboratories within a scheme for analysis and interpretation) ranged widely: amino acid disorders (<jats:italic>n<\/jats:italic>\u00a0=\u200920), range 33%\u2013100%, mean 84%; organic acid disorders (<jats:italic>n<\/jats:italic>\u00a0=\u200935), range 14%\u2013100%, mean 84%; lysosomal storage disorders (<jats:italic>n<\/jats:italic>\u00a0=\u200913), range 20%\u201397%, mean 73%; purine\/pyrimidine disorders (<jats:italic>n<\/jats:italic>\u00a0=\u20099), range 37%\u2013100%, mean 70%; miscellaneous disorders (<jats:italic>n<\/jats:italic>\u00a0=\u20098), range 17%\u2013100%, mean 65%; no IMD, range 65%\u201395%, mean 85%. When a sample with the same disorder was distributed in a subsequent survey, performance improved in 75 cases with no improvement seen in 32, suggesting overall improvement of performance. ERNDIM diagnostic proficiency testing is a valuable activity which can help to assess laboratory performance, identify methodological\/technical challenges, be informative during quality audits and contribute to a better clinical appreciation of diagnostic uncertainty.<\/jats:p>","DOI":"10.1002\/jimd.12523","type":"journal-article","created":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T09:25:36Z","timestamp":1652433936000},"page":"926-936","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The role of <scp>ERNDIM<\/scp> diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases"],"prefix":"10.1002","volume":"45","author":[{"given":"D\u00e9borah","family":"Mathis","sequence":"first","affiliation":[{"name":"University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Croft","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Newborn Screening Sheffield Children's NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr","family":"Chrastina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital in Prague and First Faculty of Medicine Charles University in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Fowler","sequence":"additional","affiliation":[{"name":"University Children's Hospital Basel, University Children's Hospitals Z\u00fcrich  Basel and Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Vianey\u2010Saban","sequence":"additional","affiliation":[{"name":"Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Biology CHU de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George J. G.","family":"Ruijter","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12348"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2006.133"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02138769"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-1025-4"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9941-1"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0986-7"},{"key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"688","DOI":"10.47102\/annals-acadmedsg.V35N10p688","article-title":"External proficiency testing programmes in laboratory diagnoses of inherited metabolic disorders","volume":"35","author":"Tan IK","year":"2006","journal-title":"Ann Acad Med Singapore"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.61"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12523","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12523","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T23:25:38Z","timestamp":1692660338000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,23]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1002\/jimd.12523"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12523","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,23]]},"assertion":[{"value":"2022-02-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}