In recent years, molecular diagnostics has become pivotal in the detection of polycystic kidney disease (PKD).1 Nevertheless, given the extensive genomic architecture, allelic heterogeneity, and dispersed mutations in affiliated genes, the translation of its clinical prospects is constrained.2 Moreover, summarizing the pertinent literature within the past decade reveals that the majority of studies predominantly focus on three main genes (PKD1, PKD2, and PKHD1), resulting in a limited scope of genes considered (Table S1). In the present investigation, endeavoring to supersede the limitations of traditional genetic diagnosis methods, we employed next-generation sequencing to meticulously interrogate the entire coding domains and exon-intron junctions of 15 pre-eminent genes (Table S2).