FAMILIAL GASTROINTESTINAL STROMAL TUMOR (GIST): CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Familial Gastrointestinal Stromal Tumor (GIST) Panel analyzes genes related to hereditary predisposition to developing GIST, a type of mesenchymal tumor of the digestive tract characterized by its origin in the interstitial cells of Cajal. Although most GISTs are sporadic, familial forms exist, associated with germline mutations that confer a high risk of developing multiple gastric or intestinal lesions. The study includes genes such as KIT and PDGFRA, responsible for most familial and sporadic cases, which encode tyrosine kinase receptors whose abnormal activation induces cell proliferation. In addition, it includes genes related to succinate dehydrogenase complexes (SDH: SDHA, SDHB, SDHC, SDHD), implicated in GIST-paraganglioma syndromes, as well as NF1, associated with neurofibromatosis type 1 and a predisposition to tumors. This panel allows for confirmation of the genetic diagnosis, differentiation between syndromic and non-syndromic forms, guidance of treatment with targeted therapies (imatinib and other tyrosine kinase inhibitors), and appropriate family counseling. Genes analyzed: KIT, PDGFRA, NF1, SDHA, SDHB, SDHC, SDHD. You can consult the complete list of analyzed genes by contacting Genotica.
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