TP53 Gene Li-Fraumeni syndrome type 1 NGS Genetic Test
Short Name: TP53 NGS Genetic Test
Also known as: TP53 Gene Mutation Test, Li-Fraumeni Syndrome Genetic Test, TP53 NGS Panel
TP53 Gene Li-Fraumeni syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the TP53 gene that are associated with Li-Fraumeni Syndrome type 1. It aids in confirming a clinical diagnosis, guiding cancer surveillance protocols, and enabling predictive testing for at-risk family members.
- Test Code
- 6000
- CPT Code
- 81479
- ICD Code
- Z15.09
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, it is recommended to bring any relevant medical records or family history information to the genetic counseling session.
Method: Venipuncture or finger prick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a simple finger prick is sufficient.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the TP53 gene that are associated with Li-Fraumeni Syndrome type 1. It aids in confirming a clinical diagnosis, guiding cancer surveillance protocols, and enabling predictive testing for at-risk family members.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- For FTA card, allow the blood spot to dry completely before sealing.
- Label the sample with patient name and date of birth.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early detection of TP53 mutations is crucial for managing Li-Fraumeni syndrome. This NGS test provides comprehensive analysis to guide surveillance and preventive strategies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Positive for pathogenic TP53 mutation
Confirms diagnosis of Li-Fraumeni syndrome type 1. Increased cancer risk. Recommend enhanced surveillance and family testing.
Negative for pathogenic TP53 mutation
No mutation detected in the TP53 gene. However, clinical suspicion may warrant testing of other genes or further evaluation.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Additional family studies or functional assays may be needed.
If you have a personal or family history suggestive of Li-Fraumeni syndrome, or if you have been advised by a healthcare provider to undergo genetic testing, consult with a genetic counselor or oncologist to discuss the appropriateness of this test.
Limitations
- ⚠This test detects mutations in the TP53 gene only; other genes associated with LFS-like syndromes are not analyzed.
- ⚠Variants of uncertain significance may be reported; further familial studies may be required.
- ⚠Mosaic mutations may not be detected with standard NGS sensitivity.
- ⚠Large genomic rearrangements may not be detected by sequencing alone; additional analysis is included but may have limitations.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic testing results
- ●Potential for incidental findings
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of hematological malignancies may cause false negatives due to clonal hematopoiesis
Compare With Similar Tests
| Test | TP53 Gene Li-Fraumeni syndrome type 1 NGS Genetic Test | Sanger Sequencing | Multigene Panel |
|---|---|---|---|
| Comparison | TP53 Gene Li-Fraumeni syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is Li-Fraumeni syndrome?
How is the TP53 NGS genetic test performed?
What is the cost of the TP53 gene test at DNA Labs India?
Who should consider this test?
What does a positive result mean?
What does a negative result mean?
What is a variant of uncertain significance (VUS)?
Is fasting required before the test?
How long does it take to get results?
Can the test be done at home?
Will insurance cover the cost?
What should I do after receiving the results?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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