POLYCYSTIC KIDNEY SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) – 131 genes

The Polycystic Kidney Disease Panel is designed for the genetic diagnosis of inherited disorders characterized by the progressive formation of multiple renal cysts, tubular dilation, and interstitial fibrosis. These disorders can occur in isolation or as part of multisystemic ciliopathic syndromes. They include both classic forms of autosomal dominant and recessive polycystic kidney disease (PKD1, PKD2, PKHD1) and syndromes related to primary cilium dysfunction and tubular and ductal developmental abnormalities. The study encompasses genes involved in ciliary biogenesis and function, renal signaling, and tubular epithelium organization, such as PKD1, PKD2, PKHD1, HNF1B, NPHP1-4, CEP290, TMEM67, TTC21B, WDR19, BBS1, BBS10, MKS1, and OFD1, as well as genes responsible for overlapping syndromes like Bardet-Biedl, Meckel-Gruber, Joubert, and Senior-Løken. Identifying pathogenic variants allows for diagnostic confirmation, differentiation between syndromic and non-syndromic forms, assessment of associated hepatic, pancreatic, or ocular involvement, and guidance of clinical management and prognosis, including the use of targeted therapies such as vasopressin inhibitors. Key genes analyzed: PKD1, PKD2, PKHD1, HNF1B, TMEM67, CEP290, TTC21B, WDR19, BBS1, BBS10, MKS1, OFD1, and others. For a complete list of analyzed genes, please contact Genotica.