KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis.

a. We recommend that the standard methodology for genetic diagnosis of autosomal dominant polycystic kidney disease is polymerase chain reaction (PCR) amplification (including long-range PCR for the first 33 exons of PKD1) followed by Sanger sequencing (1A) or next-generation sequencing where available (1D). b. We suggest that individuals with a clinical diagnosis of autosomal dominant polycystic kidney disease in whom a mutation is not found by PCR amplification and sequencing have PKD1 and PKD2 analyzed for large genomic rearrangements (such as deletions) by quantitative fluorescent multiplex PCR or a custom-designed array comparative genomic hybridization (2B).