{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T03:42:16Z","timestamp":1780112536553,"version":"3.54.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,6,18]],"date-time":"2025-06-18T00:00:00Z","timestamp":1750204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,6,18]],"date-time":"2025-06-18T00:00:00Z","timestamp":1750204800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["PNRR\u2010MCNT2\u20102023\u201012377268"],"award-info":[{"award-number":["PNRR\u2010MCNT2\u20102023\u201012377268"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Chronic kidney disease (CKD) has a genetic origin in 10% of patients. The most effective and cost\u2010beneficial genetic testing methodology is debated. A multicenter, retrospective analysis of 692 patients with panel genetic testing (44 genes) evaluated the diagnostic yield, independent predictors of genetic diagnoses, and clinical impact. Diagnostic variants identified totaled 252, resulting in a 36% yield. The highest yields were associated with cystic disease (49%). No diagnostic variants were identified in unknown CKD. Independent clinical predictors of diagnosis were clinical presentation, family history, and early disease onset. Genetic diagnoses confirmed clinical suspicion in 70%, defined the diagnosis in 23%, and altered clinical diagnosis in 7%. Despite study limitations, a 44 gene panel seems to have a similar diagnostic yield as larger panels and whole\u2010exome sequencing (WES) approaches. Patient selection based on independent predictors of genetic diagnosis may further increase diagnostic yield and cost\u2010effectiveness, especially useful in cost\u2010restricted contexts.<\/jats:p>","DOI":"10.1111\/cge.70002","type":"journal-article","created":{"date-parts":[[2025,6,18]],"date-time":"2025-06-18T23:54:36Z","timestamp":1750290876000},"page":"136-140","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study"],"prefix":"10.1111","volume":"109","author":[{"given":"Silvia","family":"Giovanella","sequence":"first","affiliation":[{"name":"Department CHIMOMO University of Modena and Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4559-2647","authenticated-orcid":false,"given":"Antonio 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Bustamante\u2010Aragon\u00e9s","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Genomics, Instituto de Investigaci\u00f3n Sanitaria\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital Universidad Aut\u00f3noma de Madrid (IIS\u2010FJD, UAM)  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III, Madrid  Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Genomics, Instituto de Investigaci\u00f3n Sanitaria\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital Universidad Aut\u00f3noma de Madrid (IIS\u2010FJD, UAM)  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III, Madrid  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