Polycystic kidney disease (PKD) includes autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), which has always been associated with a high prevalence rate.Since clinical diagnosis of the disease has numerous limitations, genetic testing has proved to be useful in the early diagnosis of asymptomatic patients, with or without family history.These molecular methods involved prenatal as well as pre-symptomatic diagnosis.Currently, the clinical is difficult to distinguish between fetal ADPKD and ARPKD, particularly few reports of the relevant PKD1, PKD2, and PKHD1 genes of diagnosis in the Chinese population.Molecular diagnosis of the disease in at-risk individuals is complicated due to the structural complexity of PKD1 gene and the high diversity of the mutations.We aimed to revolutionize the diagnosis protocol of PKD to provide earlier diagnosis and an timely treatment.In the meantime, we explored preimplantation genetic diagnosis of PKD also.The results indicated that devising and running a systematic operating procedure in identifying the pathogenic mutations in PKD1, PKD2 and PKHD1 genes could offer great promise in the diagnosis and treatment of ADPKD and ARPKD among patients.Using direct sequencing and DHPLC combining prediction of the pathogenicity of missense variants, we screened these genes for mutations in 13 families with PKD,and found 7 novel mutations including 4 mutations in PKD1 gene and 3 mutations in PKHD1 gene, which enrich spectrum of mutations Chinese Han population.