Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin

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 releva...

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Published in:Nephrology, dialysis, transplantation dialysis, transplantation, 2024-11
Main 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
Format: Article
Language:English
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Summary: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. In this prospective cohort study, we recruited patients with unexplained CKD (eGFR
ISSN:0931-0509
1460-2385
1460-2385
DOI:10.1093/ndt/gfae270