RHABDOID TUMOR PREDISPOSITION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Rhabdoid Tumor Predisposition Syndrome panel is designed to identify germline mutations responsible for this early-onset genetic disorder, characterized by an increased susceptibility to developing aggressive tumors such as rhabdoid tumor of the brain (AT/RT), rhabdoid renal tumors, and other soft tissue sarcomas during childhood. Most cases are due to alterations in the SMARCB1 and SMARCA4 genes, both components of the SWI/SNF complex, which is involved in the epigenetic regulation of gene expression and cell cycle control. Mutations in these genes lead to a loss of tumor suppressor function, facilitating malignant transformation of cells. Genes analyzed: SMARCB1, SMARCA4. You can obtain the complete list of analyzed genes by contacting Genotica.
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