Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder primarily caused by pathogenic variants in Method: Following a predefined protocol and PRISMA 2020 guidelines, PubMed, Scopus, and Web of Science were searched for studies published between January 2015 and August 2025. Eligible studies included ≥ 30 clinically diagnosed ADPKD participants and reported patient-level diagnostic data. Two investigators independently extracted information on testing methods, diagnostic yield, and identified genes. Results: From 23,718 records, 20 studies met inclusion criteria, with sample sizes ranging from 32 to 634 participants. Diagnostic methods included Sanger sequencing (SS), multiplex ligand-probe amplification (MLPA), long-range PCR (LR-PCR), targeted next-generation sequencing (NGS) panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS). Detection rates ranged from 61% (LR-PCR) to 92% (targeted NGS). Conclusion: Targeted NGS panels provided the highest diagnostic accuracy and cost-effectiveness for ADPKD. Complementary use of MLPA and LR-PCR improved detection of complex variants. Further optimization of sequencing workflows and variant interpretation will enhance diagnostic precision and clinical application. This review provides an evidence-based foundation for current diagnostic practices in ADPKD.