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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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

Identification of somatic mutations in TP53 gene
Test Details
Test Code: 9056
Special Notes: This test can also be performed on FFPE samples (#9055).

Germline mutation analysis is required if novel mutations are detected. Please see detailed requirements under test code (#9057).

TP53 is the most commonly mutated gene in cancers. The types of mutations of TP53 include missense mutation, nonsense mutation, insertion, and deletion. These mutations disrupt the function of p53 and results in uncontrolled cell proliferation. Several clinical trials have shown that the mutation status of TP53 can be used as a progonotic factor of many types of cancers, such as head and neck squamous cell carcinoma, leukemia, and breast cancer.

Technical Limitations:

This test is designed to detect somatic mutations in the TP53 gene. 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: Sequence analysis is performed in both forward and reverse directions
Gene Name: TP53 (LFS1, p53)
Protein Name: Cellular tumor antigen p53
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Bone Marrow
Requirements: Draw bone marrow in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 2 cc (Infant< 2 years).
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.

Specimen Type: Fresh Frozen Tissue
Requirements: 150 mg (0.5-2.0 cm3) Fresh tissue snap frozen at -20C. Store at -20C.
Shipping Conditions: Ship on minimum of 10 lbs. of dry ice in an insulated container by overnight courier.

Specimen Type: Leukemic Blood
Requirements: Draw leukemic blood in a EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 2 cc (Infant<2yrs). (White count > 15,000 with at least 20% blasts).
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. 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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