Genetic testing in kidney disease has been gaining more attention in recent years as an important diagnostic tool. Especially in selected cases, genetic testing can be a first mode of diagnostics in various renal diseases. Mallett et al. are the first to report on the overall diagnostic yield of targeted gene panel testing in familial kidney disease, both in pediatric and adult cases. In this commentary we discuss the importance of a clear gene panel design, with an up-to-date enrichment offering sufficient coverage for each gene, and a validated pipeline for variant calling. We also emphasize the necessity of detailed phenotyping, including a pedigree, as a critical factor for gene panel selection and variant interpretation.
Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.