Medical Genetics Test Details
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|TP53 Targeted Mutation Analysis - Germline|
|Test Information:||Indication for Study:
Distinguish germ line mutation from somatic mutation.
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 TP53 Mutation Analysis performed on tumor tissue (#9055). 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.
- TP53 Mutations in Human Cancers: Functional Selection and Impact on Cancer Prognosis and Outcomes
- Efficacy of Neoadjuvant Cisplatin in Triple-Negative Breast Cancer
- Pharmacological Reactivation of Mutant p53: from protein structure to the cancer patient
|Methodology:||Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells
|Gene Name:||TP53 (LFS1, p53)|
|Protein Name:||Cellular tumor antigen p53|
|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.|