RENAL AGENESIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 11 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Renal Agenesis Panel is designed for the genetic study of congenital malformations characterized by the unilateral or bilateral absence of the kidney, with or without involvement of the urinary tract. These anomalies can occur in isolation or as part of complex genetic syndromes, and their early identification is essential for detecting associated alterations and planning clinical management. The analysis includes genes involved in renal embryogenesis, ureteral induction, and the interaction between the metanephric mesenchyme and the Wolffian duct. Identifying pathogenic variants in these genes allows for confirming the diagnosis, defining the risk of recurrence, and guiding genetic counseling. Key genes analyzed include: BMP4, DSTYK, FGF20, FRAS1, FREM1, FREM2, GFRA1, ITGA8, RET, UPK3A, WNT9B, and others. A complete list of analyzed genes can be obtained by contacting Genotica.
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