CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT): CLINICAL EXOME PANEL (Sec. & CNVs) – 86 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) panel is designed to detect genetic variants responsible for a wide spectrum of structural renal and urological malformations, including renal agenesis, dysplasia, ureteral duplications, hydronephrosis, and vesicoureteral reflux, among others. These abnormalities are a major cause of chronic kidney disease in childhood and can occur in isolation or as part of complex genetic syndromes. The analysis includes genes involved in renal embryonic development, tubular epithelium differentiation, and signaling between the metanephric mesenchyme and the ureteric bud. Identifying pathogenic variants allows for establishing an etiological diagnosis, anticipating complications, and providing genetic counseling for families. Key genes analyzed: ACE, AGT, ANOS1, BMP4, EYA1, FRAS1, FREM1, FREM2, HNF1B, PAX2, PBX1, RET, SALL1, SIX1, UMOD, WT1, and others. For a complete list of analyzed genes, please contact Genotica.
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