TP53 Mutation Analysis
 

Indication:  

Tumor protein p53 (TP53) is a gene that codes for a tumor suppressor protein, which regulates expression of genes involved in cell cycle arrest, apoptosis, senescence, DNA repair, and changes in metabolism.  In cancer, loss of TP53 function due to deletion or mutation leads to cell survival, DNA damage, and cell proliferation. TP53 mutation analysis is used to detect and type mutations in the DNA-binding domain of the TP53 tumor suppressor gene for diagnosis of Li-Fraumeni syndrome and for prognosis (generally poor prognosis) and therapy selection of a wide range of cancer types.

Somatic TP53 mutations occur in almost every type of cancer at varying rates ranging from 38%–50% (ovarian, esophageal, colorectal, head and neck, larynx, and lung cancers) to about 5% (primary leukemia, sarcoma, testicular cancer, malignant melanoma, and cervical cancer). Mutations are more frequent in advanced stage or in cancer subtypes with aggressive behavior.

Methodology:  

This test is performed by PCR-based Next Generation Sequencing of DNA to examine the mutation status of the entire coding region of the TP53 gene (exons 2 through 11).

Test Parameters:  

This assay can detect mutations present in exons 2, 3, 4, 5, 6, 7, 8,9,10 and 11 of TP53. The limit of detection of the Next Generation Sequencing assay is 5% of variant sequence in the background of wild-type sequence.
 

Turnaround Time:
 

10  business days
 

Sample Requirements:

10-30 mL peripheral blood, 2-5mL bone marrow aspirate, 1mg purified DNA, or 4-10 unstained tissue sections on glass slides along with 1 H&E-stained section.
Please provide a copy of the corresponding pathology report.
 

CPT Codes:
 

81405
Additional charges may apply for tissue extraction.

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.