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Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

The overall diagnostic yield of massively parallel sequencing-based tests in patients with chronic kidney disease (CKD) is 30% for paediatric cases and 6-30% for adult cases. These figures should encourage nephrologists to frequently use genetic testing as a diagnostic means for their patients. Howe...

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Main Authors: Knoers, Nine (Author) , Antignac, Corinne (Author) , Bergmann, Carsten (Author) , Dahan, Karin (Author) , Giglio, Sabrina (Author) , Heidet, Laurence (Author) , Lipska-Ziętkiewicz, Beata S. (Author) , Noris, Marina (Author) , Remuzzi, Giuseppe (Author) , Vargas-Poussou, Rosa (Author) , Schaefer, Franz (Author)
Format: Article (Journal)
Language:English
Published: 2022
In: Nephrology, dialysis, transplantation
Year: 2022, Volume: 37, Issue: 2, Pages: 239-254
ISSN:1460-2385
DOI:10.1093/ndt/gfab218
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/ndt/gfab218
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Author Notes:Nine Knoers, Corinne Antignac, Carsten Bergmann, Karin Dahan, Sabrina Giglio, Laurence Heidet, Beata S Lipska-Ziętkiewicz, Marina Noris, Giuseppe Remuzzi, Rosa Vargas-Poussou and Franz Schaefer; for the ERA Working Group on Inherited Kidney Disorders (WGIKD), which is an official body of the ERA (European Renal Association), and the Molecular Diagnostics Taskforce of the European Rare Kidney Disease Reference Network (ERKNet) for the ERA Working Group on Inherited Kidney Disorders (WGIKD)
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Summary:The overall diagnostic yield of massively parallel sequencing-based tests in patients with chronic kidney disease (CKD) is 30% for paediatric cases and 6-30% for adult cases. These figures should encourage nephrologists to frequently use genetic testing as a diagnostic means for their patients. However, in reality, several barriers appear to hinder the implementation of massively parallel sequencing-based diagnostics in routine clinical practice. In this article we aim to support the nephrologist to overcome these barriers. After a detailed discussion of the general items that are important to genetic testing in nephrology, namely genetic testing modalities and their indications, clinical information needed for high-quality interpretation of genetic tests, the clinical benefit of genetic testing and genetic counselling, we describe each of these items more specifically for the different groups of genetic kidney diseases and for CKD of unknown origin.
Item Description:Published 15 July 2021
Gesehen am 29.03.2022
Physical Description:Online Resource
ISSN:1460-2385
DOI:10.1093/ndt/gfab218

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