Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.

ABSTRACT:

Introduction

Chronic kidney disease (CKD) is a major public health issue in the USA. Identification of monogenic causes of CKD, which are present in ∼10% of adult cases, can impact prognosis and patient management. Broad gene panels can provide unbiased testing approaches, which are advantageous in phenotypically heterogeneous diseases. However, the use and yield of broad genetic panels by nephrologists in clinical practice is not yet well characterized.

Methods

Renal genetic testing, ordered exclusively for clinical purposes, predominantly by general and transplant nephrologists within the USA, was performed on 1,007 consecutive unique patient samples. Testing was performed using a commercially available next-generation sequencing-based 382 gene kidney disease panel. Pathog

SUBMITTER: Bleyer AJ 

PROVIDER: S-EPMC9216312 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature