PKD1 and autosomal dominant polycystic kidney disease: Therefore, performing mutation analyses on only PKD1 and PKD2 in ADPKD patients who require gene diagnosis is insufficient, and application of our gene detection panel or even WES and MLPA are necessary (MLPA is a novel diagnostic tool for genetic screening, which is gradually becoming the principal method for the detection of exon deletion and duplication (Schouten et al., 2002), as they can detect HNF1B, gene repetition and deletion, or other possible pathogenic gene mutations.