TP53 Mutation Analysis, Next-Generation Sequencing, Tumor
Use
The TP53 test is instrumental in assisting the clinical management of patients with cancer. It utilizes targeted next-generation sequencing to assess somatic mutations within the TP53 gene in solid tumor samples. TP53 mutations are the most frequent genetic alterations in human cancers, commonly associated with poor outcomes and early recurrence. In CNS tumors, they act as diagnostic molecular biomarkers for certain tumors and support the classification of others.
Special Instructions
This test is not intended for evaluating patients suspected of having inherited or germline TP53 cancer syndromes, such as Li Fraumeni syndrome. A pathology report containing specific details must accompany the specimen for testing. Turnaround time may vary due to specimen processing requirements, including the use of glass for cytology slides to avoid delay.
Limitations
This assay cannot differentiate somatic from germline mutations. It does not assess larger-scale genomic copy number variants, copy neutral loss of heterozygosity, or epigenetic changes such as promoter methylation. Point mutations and small deletions are the primary foci, with a detection limit requiring 5% mutant allele frequency and 500x coverage. It is not suitable for multi-exon deletions, duplications, or improperly treated tissues.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103680-5
- 82939-0
- 69047-9
- 48767-8
- 31208-2
- 80398-1
- 85069-3
- 62364-5
- 18771-6
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
216 mm(2) tumor area
Minimum Volume
36 mm(2) tumor area
Container
Formalin-fixed, paraffin-embedded tissue block or slides
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with an adequate amount of tumor tissue. For tissue slides, submit 1 stained and up to 10 unstained slides.
Storage Instructions
Store at ambient temperature.
Causes for Rejection
Improperly preserved tissue or inadequate tumor content.