Related Experiment Video
Updated: Dec 11, 2025

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
Novel PKD1 Mutations in Patients with Autosomal Dominant Polycystic Kidney Disease
Hyerin Kim1,2, Hyung-Hoi Kim1,2, Chulhun L Chang3
1Department of Laboratory Medicine, Pusan National University Hospital, Busan, Korea.
Objective:
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease. Identifying mutated causative genes can provide diagnostic and prognostic information. In this study, we describe the clinical application of a next generation sequencing (NGS)-based, targeted multi-gene panel test for the genetic diagnosis of patients with ADPKD.
Methods:
We applied genetic analysis on 26 unrelated known or suspected patients with ADPKD. A total of 10 genes related to cystic change of kidney were targeted. Detected variants were classified according to standard guidelines.
Results:
We identified 19 variants (detection rate: 73.1%), including PKD1 (n = 18) and PKD2 (n = 1). Of the 18 PKD1 variants, 8 were novel.
Conclusion:
Multigene panel test can be a comprehensive tool in a clinical setting for genetic diagnosis of ADPKD. It allows us to identify clinically significant novel variants and confirm the diagnosis, and these objectives are difficult to achieve using conventional diagnostic tools.
Related Concept Videos
Chronic Kidney Disease I: Introduction
Nephrons
Pedigree Analysis
Mutations
Chronic Kidney Disease III: Interprofessional Care
Chronic Kidney Disease II: Clinical Manifestations

