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

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Published:14th Jul 2021

Author: Knoers N, Antignac C, Bergmann C, Dahan K, Giglio S, Heidet L et al.

Source: Nephrology Dialysis Transplantation

Ref.:Nephrol Dial Transplant. 2021 Jul 15:gfab218

DOI:10.1093/ndt/gfab218

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

The overall diagnostic yield of massively parallel sequencing (MPS) based-tests in patients with chronic kidney disease (CKD) is around 30% for pediatric cases and 6-30% for adult cases. These figures should encourage nephrologists to frequently use genetic testing as a diagnostic means for their patients, but in reality several barriers appear to hinder the implementation of NGS diagnostics in routine clinical practice. In this paper, we aim to support the nephrologist to overcome these barriers. After a detailed discussion on the general items that are important to genetic testing in nephrology, namely (1) genetic testing modalities and their indications, (2) clinical information needed for high-quality interpretation of the genetic test, (3) clinical benefit of genetic testing and (4) genetic counselling, we will describe each of these items more specifically for the different groups of genetic kidney diseases and for CKD of unknown origin.

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Hyperkalaemia

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A digital image of two human kidneys, stylised in blue and red

Chronic Kidney Disease

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Digital close up of human kidney glomerulus and the Bowman Capsule

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Featured Learning Zones

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Chronic Kidney Disease Learning Zone

Chronic Kidney Disease (CKD) is a disease that can often lead to a need for haemodialysis and kidney transplantation. New CKD treatments are emerging which focus on delaying CKD disease progression and the need for transplantation.

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