The diagnostic process, which included clinical exome sequencing (CES) and chromosomal microarray analysis (CMA), revealed a triple diagnosis: autosomal dominant polycystic kidney disease (ADPKD) due to a pathogenic variant, c.2152C>T-p.(Gln718Ter), in the <i>PKD1</i> gene; late-onset phenylketonuria due to the presence of two missense variants, c.842C>T-p.(Pro281Leu) and c.143T>C-p.(Leu48Ser) in the <i>PAH</i> gene; and a 915 Kb duplication on chromosome 15. The gene discussed is PKD1; the disease is autosomal dominant polycystic kidney disease.