| Title: |
Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin |
| Authors: |
de Haan,Amber; Eijgelsheim,Mark; Vogt,Liffert; Hoorn,Ewout J; Rotmans,Joris I; Fortrie,Gijs; Marsman,Roos F J; Rothuizen,Tonia C; Spijker,H Siebe; Claus, Laura R; Konings,Constantijn J A M; Waanders,Femke; Doornebal,Joan; Kramer,Andrea B; Adema,Aaltje Y; van der Zwaag, Bert; van Eerde, Albertien M; Knoers, Nine V A M; de Borst,Martin H; Genetica Oper.Mang. Clinical Genetics; Cancer; Child Health; Genetica Sectie Genoomdiagnostiek; Genetica Klinische Genetica; Genetica |
| Publication Year: |
2025 |
| Subject Terms: |
chronic kidney disease; diagnostic yield; exome sequencing; genetics; massively parallel sequencing; Taverne; Nephrology; Transplantation; Journal Article |
| Description: |
Background: Chronic kidney disease (CKD) remains unexplained in at least 20% of patients. Massively parallel sequencing (MPS) can be a valuable diagnostic tool in patients with unexplained CKD, but prospective data from routine clinical practice are limited. We aimed to determine the diagnostic yield and relevance of MPS-based gene panel testing in patients with unexplained CKD in a real-world context. We additionally examined barriers to implementation of genetic testing. Methods: In this prospective cohort study, we recruited patients with unexplained CKD (estimated glomerular filtration rate |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
0931-0509 |
| Relation: |
https://dspace.library.uu.nl/handle/1874/465258 |
| Availability: |
https://dspace.library.uu.nl/handle/1874/465258 |
| Rights: |
info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.F1FFC1E9 |
| Database: |
BASE |