Medical Genetics Test Details
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|PIK3CA Mutation Analysis - Germline|
|Test Information:||Indication for Study:
To distinguish germ line mutation from somatic mutation when a novel mutation(s) is identified.
Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells|
This test can only be performed if there is a previously identified novel mutation(s) identified in PIK3CA Mutation Analysis performed on FFPE samples (#9035) or Fresh Frozen Tissue (#9036). A laboratory report containing the novel mutation information. If the original novel mutation(s) was identified in another laboratory, this testing must be discussed with one of our genetic counselors prior to sending a specimen.
This test is designed to distinguish germ line mutation from somatic mutation. The limit of the test is approximately 20 mutated cells in 100 total cells (20%).
Results of this test must always be interpreted in the context of relevant clinical and pathological data, and should not be used alone for a diagnosis of malignancy.
- KRAS, BRAF, PIK3CA, and PTEN Mutations: Implications for Targeted Therapies in Metastatic Colorectal Cancer
- FGFR3, HRAS, KRAS, NRAS and PIK3CA Mutations in Bladder Cancer and Their Potential as Biomarkers for Surveillance and Therapy
|Methodology:||Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells
|Protein Name:||Phosphatidylinositol 3-Kinase, Catalytic, Alpha|
|Sample & Shipping Information|
|Test Requisition:||Tumor Analysis|
|Requirements:||Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).|
|Shipping Conditions:||Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Do not heat or freeze.
|Turn Around Time:||14 days|
|List Price:||*For Insurance or Institutional Prices, please call.|