Compositions and methods for genetic analysis of polycystic kidney disease

A diagnosis method for identifying a patient affected with PKD, said method comprising:

• (c) obtaining a sample from an individual;
• (d) incubating said sample in a reaction mixture, in the presence of at least one first nucleic acid and at least one second nucleic acid, wherein said first nucleic acid comprises a primer sequence which anneals to a unique site within a sequence of SEQ ID NO. 1 or 2, and said second nucleic acid has an opposite orientation from said first nucleic acid, and wherein said incubation produces amplified products;
• (c) generating duplexes in said amplified products;
• (d) detecting the presence or absence of a heteroduplex from said duplexes, and(e) determining the sequence of the heteroduplex region wherein the presence of a mutation in the heteroduplex region as compared to SEQ ID No. 1 or 2 is indicative that said individual is affected with PKD.