NEVOID BASAL CELL CARCINOMA SYNDROME (GORLIN SYNDROME): CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The panel for Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) is designed for the genetic study of an autosomal dominant inherited disorder characterized by the development of multiple basal cell carcinomas, odontogenic cysts of the jaws, intracranial calcifications, skeletal malformations, and, in some cases, a predisposition to other tumors such as medulloblastoma. The syndrome is primarily caused by mutations in the PTCH1, PTCH2, and SUFU genes, which encode proteins involved in the Hedgehog signaling pathway, essential for the control of cell growth and differentiation. Alterations in this pathway lead to dysregulated activation of proliferative and tumorigenic mechanisms. Molecular analysis of this panel allows for confirmation of the clinical diagnosis, differentiation between sporadic and hereditary cases, the establishment of personalized cancer surveillance strategies, and the assessment of genetic risk in family members who are carriers. Genes analyzed: PTCH1, PTCH2, SUFU. You can consult the complete list of genes analyzed by contacting Genotica.
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