A major obstacle to the genetic analysis in ADPKD is a reduced sensitivity of noncustomized NGS-based methods in reliably detecting PKD1 variants due to its pseudogene regions on chromosome 16.25 Notably, ES was recently shown to miss a critical amount of PKD1 variants in the duplicated regions of exons 1–32, which make up most of the gene.25 To meet this challenge, our PKD gene panel was specifically designed to enrich these duplicated regions of PKD1 to guarantee a sufficient sequencing depth and a low rate of false positives and false negatives.26 This evidence concerns the gene PKD1 and autosomal dominant polycystic kidney disease.