Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups

Laura R. Claus, Rozemarijn Snoek, Nine V.A.M. Knoers, Albertien M. van Eerde*

*Bijbehorende auteur voor dit werk

    Onderzoeksoutputpeer review

    1 Citaat (Scopus)
    39 Downloads (Pure)


    Genetic kidney disease comprises a diverse group of disorders. These can roughly be divided in the phenotype groups congenital anomalies of the kidney and urinary tract, ciliopathies, glomerulopathies, stone disorders, tubulointerstitial kidney disease, and tubulopathies. Many etiologies can lead to chronic kidney disease that can progress to end-stage kidney disease. Despite each individual disease being rare, together these genetic disorders account for a large proportion of kidney disease cases. With the introduction of massively parallel sequencing, genetic testing has become more accessible, but a comprehensive analysis of the diagnostic yield is lacking. This review gives an overview of the diagnostic yield of genetic testing across and within the full range of kidney disease phenotypes through a systematic literature search that resulted in 115 included articles. Patient, test, and cohort characteristics that can influence the diagnostic yield are highlighted. Detection of copy number variations and their contribution to the diagnostic yield is described for all phenotype groups. Also, the impact of a genetic diagnosis for a patient and family members, which can be diagnostic, therapeutic, and prognostic, is shown through the included articles. This review will allow clinicians to estimate an a priori probability of finding a genetic cause for the kidney disease in their patients.

    Originele taal-2English
    Pagina's (van-tot)358-376
    Aantal pagina's19
    TijdschriftAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
    Nummer van het tijdschrift3
    Vroegere onlinedatum26-sep.-2022
    StatusPublished - sep.-2022

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