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

Nine Knoers*, Corinne Antignac, Carsten Bergmann, Karin Dahan, Sabrina Giglio, Laurence Heidet, Beata S. Lipska-Ziȩtkiewicz, Marina Noris, Giuseppe Remuzzi, Rosa Vargas-Poussou, Franz Schaefer

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    32 Citaten (Scopus)
    26 Downloads (Pure)


    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.

    Originele taal-2English
    Pagina's (van-tot)239-254
    Aantal pagina's16
    TijdschriftNephrology Dialysis Transplantation
    Nummer van het tijdschrift2
    StatusPublished - 1-feb.-2022

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