Aim of the present work was to realize a comprehensive description of all the genetic variation of PKD1 and PKD2 in a large cohort of Italian patients affected by ADPKD: 643 subjects were analysed by a semi-automated Sanger direct sequencing protocol, followed by multiple ligation probe assay (MLPA) analysis. This evidence concerns the gene PKD1 and autosomal dominant polycystic kidney disease.