Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
In patients with chronic kidney disease (CKD), the overall diagnostic yield of next generation sequencing (NGS) based-tests is ~30% for pediatric cases and ~6-30% for adult cases. Still, in reality, several barriers appear to hinder the implementation of NGS diagnostics in the routine clinical practice of nephrology.
To support nephrologists to overcome these barriers, we published an article in a great collaborative effort discussing 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.
A detailed description for the different groups of genetic kidney diseases and for CKD of unknown origin can be found here: