Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common genetic disorder of the kidney and accounts for over 95% of all cystic diseases involving loss of kidney function. The diagnosis of ADPKD is confirmed by mutational analysis of PKD1 and PKD2 genes, which is complex, because of the significant allelic heterogeneity and the presence of six pseudogenes presenting highly homologous sequences with an extended region of the PKD1 gene (exons 1–33). The aim of this study was to develop a rapid and reliable method for the molecular diagnosis of ADPKD using the technology of Next Generation Sequencing (NGS), that could be used for a diagnostic purpose. We first validated the test on two cohorts of ADPKD patients previously characterized by traditional Sanger sequencing method; then we analyzed a cohort of 58 patients not characterized and we achieved a mutation detection rate of 84.7%.
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