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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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TP53 Mutation Analysis - Germline
Test Information: Indication for Study:

Distinguish germ line mutation from somatic mutation.
Test Details
Test Code: 9057
Test Includes: Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells


Special Notes: This test can only be performed if there is a previously identified novel mutation(s) identified in TP53 Mutation Analysis performed on FFPE samples (#9055) or Fresh Frozen Tissue (#9056). 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.

Technical Limitations:

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.

Useful Publications:
- 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
Technical Information
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
Specimen Type: Blood
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 (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81405x1


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