PKD1 and autosomal dominant polycystic kidney disease: Here, we do not only demonstrate that genome enrichment by in-solution hybridization using an elaborated probe design is an accurate strategy for mutation identification in the duplicated regions and the rest of PKD1 and PKD2, but also that this strategy is ready to substitute LR-PCR-based methods in the routine genetic diagnostics of ADPKD to detect all sorts of sequence variants, including SVs.