WILMS TUMOR: CLINICAL EXOME PANEL (Sec. & CNVs) – 37 genes

The Wilms Tumor Panel is designed for the genetic study of one of the most common pediatric renal neoplasms, associated with alterations in genes involved in renal development, epigenetic regulation, and cell cycle control. This panel detects both germline and somatic mutations associated with hereditary predisposition or susceptibility to developing this type of tumor. The analysis includes genes such as WT1, REST, DIS3L2, CTNNB1, and DICER1, related to tumor predisposition syndromes (Denys-Drash, Perlman, Beckwith-Wiedemann, DICER1, among others), as well as genes involved in DNA repair (BLM, BRCA2, TP53, FBXW7), regulation of cell growth and differentiation (GPC3, GPC4, HACE1, CDKN1C), and oncogenic signaling pathways such as PI3K/AKT and WNT (PIK3CA, CTNNB1, AMER1). Identifying pathogenic variants using this panel allows for confirmation of the molecular diagnosis, differentiation between syndromic and sporadic forms, and the establishment of personalized surveillance and cancer management strategies. It also facilitates family genetic counseling to assess the risk of recurrence or transmission. Genes analyzed: AMER1, ARID1A, ASXL1, BLM, BRCA2, BUB1B, CDC73, CDKN1C, CHD4, COL6A3, CTNNB1, DGCR8, DICER1, DIS3L2, DROSHA, EP300, FBXW7, GPC3, GPC4, HACE1, HDAC4, IGF2, NF1, PALB2, PIK3CA, POU6F2, REST, RLIM, SIX1, SIX2, SMARCA4, TP53, TRIM28, TRIM37, TRIP13, WT1, XPO5. You can consult the complete list and its clinical interpretation by contacting Genotica.