TP53 (tumor protein 53) (eg, Li-Fraumeni syndrome) gene analysis; targeted sequence analysis (eg, 4 oncology)
CPT4 code
Name of the Procedure:
TP53 Gene Analysis (Tumor Protein 53), Targeted Sequence Analysis Common Terms: TP53 Sequencing, Li-Fraumeni Syndrome Gene Test
Summary
TP53 gene analysis involves examining specific sequences of the TP53 gene to identify mutations. These mutations can indicate a susceptibility to certain cancers, particularly Li-Fraumeni Syndrome.
Purpose
This procedure addresses genetic predispositions to various cancers, including breast cancer, sarcomas, brain tumors, and adrenocortical carcinoma. The goal is to detect mutations in the TP53 gene to assess cancer risk and guide preventive or therapeutic measures.
Indications
- Family history of Li-Fraumeni Syndrome
- Multiple primary cancers at a young age
- Early-onset breast cancer
- Rare cancers such as sarcomas or adrenocortical carcinoma
- Patients with a known family mutation in the TP53 gene
Preparation
- No fasting or medication adjustments required
- Inform your doctor of any current medications or health conditions
- Blood draw or saliva sample may be needed
Procedure Description
- Blood or saliva sample is collected from the patient.
- The sample is sent to a laboratory specialized in genetic testing.
- DNA is extracted from the sample.
- The specific sequences of the TP53 gene are amplified and analyzed using advanced sequencing technology.
- Results are interpreted by a geneticist and shared with the healthcare provider.
Tools, equipment, or technology: Sequencing machines, PCR machines, and other molecular biology tools.
Duration
The sample collection takes about 10-15 minutes, while the analysis can take several weeks.
Setting
The sample collection is typically performed at a clinic or hospital. The analysis takes place in a specialized genetics laboratory.
Personnel
- Genetic counselor or medical geneticist
- Lab technician or phlebotomist for sample collection
- Geneticist for analysis and interpretation
Risks and Complications
- Minimal risks involved with blood draw (e.g., slight pain, bruising)
- Psychological impact of learning genetic risk
Benefits
- Identification of cancer predisposition
- Information to inform personalized cancer surveillance and prevention strategies
- Potential for early detection of cancers
Recovery
- No physical recovery needed from sample collection
- Psychological support may be beneficial depending on the results
Alternatives
- Whole genome sequencing
- BRCA gene testing for breast and ovarian cancer
- CT/MRI scans for surveillance
Pros and cons of alternatives: Whole genome sequencing provides broader information but is more expensive and complex. BRCA testing is more specific to breast and ovarian cancer but doesn't cover the wide range of cancers associated with TP53.
Patient Experience
During sample collection, patients might feel a brief pinch if a blood draw is involved. Waiting for results can cause anxiety; however, genetic counselors provide support throughout the process.