CHEK2 Gene Li-Fraumeni syndrome type 2 NGS Genetic Test
Short Name: CHEK2 LFS2 NGS
Also known as: CHEK2 Gene Mutation Test, Li-Fraumeni Syndrome Type 2 Genetic Test, CHEK2 NGS Panel
CHEK2 Gene Li-Fraumeni syndrome type 2 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. You will be notified via email or phone when the report is ready.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to identify pathogenic variants in the CHEK2 gene that are associated with Li-Fraumeni syndrome type 2. This genetic testing aids in confirming a clinical diagnosis, assessing cancer risk in asymptomatic individuals with a family history, and guiding surveillance and preventive strategies. It also helps in cascade testing of at-risk family members and informs reproductive decisions.
- Test Code
- 6002
- 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. You will be notified via email or phone when the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss implications. Please bring any relevant medical records and family history information.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be drawn from a vein in your arm, or a fingerstick blood spot may be collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be sent to the laboratory for analysis. Results are typically available in 3-4 weeks.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic variants in the CHEK2 gene that are associated with Li-Fraumeni syndrome type 2. This genetic testing aids in confirming a clinical diagnosis, assessing cancer risk in asymptomatic individuals with a family history, and guiding surveillance and preventive strategies. It also helps in cascade testing of at-risk family members and informs reproductive decisions.
How to Prepare
- No fasting required
- Inform the lab if you have had a blood transfusion in the last 2 weeks
- Ensure the FTA card is properly dried and stored in the provided envelope
- For blood sample, use EDTA vacutainer and mix gently
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for CHEK2 mutations is crucial for early cancer risk assessment and personalized surveillance. This NGS test provides comprehensive analysis to guide clinical decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper temperature control
- FTA card not dried completely
Understanding Your Results
Positive (Pathogenic variant)
Confirms the presence of a CHEK2 mutation associated with Li-Fraumeni syndrome type 2. Increased cancer risk, especially breast cancer. Enhanced surveillance and risk-reduction strategies are recommended.
Action: Consult with an oncologist and genetic counselor for personalized management. Consider cascade testing of family members.
Negative (No pathogenic variant)
No CHEK2 mutation detected. However, this does not rule out other genetic causes or sporadic cancer. Risk may still be elevated based on family history.
Action: Discuss with healthcare provider about additional genetic testing (e.g., TP53, BRCA) if clinically indicated.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its impact on cancer risk is unknown. This is not a definitive positive or negative result.
Action: Further family studies and functional analyses may be needed. Genetic counseling is essential to interpret the VUS.
If you have a personal or family history suggestive of Li-Fraumeni syndrome, or if you have tested positive for a CHEK2 mutation, it is important to consult with an oncologist or genetic counselor. They can provide guidance on cancer screening, prevention, and management options.
Limitations
- ⚠This test only analyzes the CHEK2 gene; other genes associated with LFS (e.g., TP53) are not covered
- ⚠Variant of uncertain significance (VUS) may be reported; additional testing or family studies may be needed
- ⚠Large deletions/duplications may not be detected by standard NGS; additional methods may be required
- ⚠Test does not assess non-genetic risk factors
- ⚠Results should be interpreted in the context of clinical and family history
Risks & Considerations
- ●Psychological impact of learning about increased cancer risk
- ●Potential for variant of uncertain significance (VUS) causing anxiety
- ●Insurance or employment discrimination concerns (though GINA protects in the US, India has evolving laws)
- ●False reassurance if negative but other genetic causes exist
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of hematological malignancies may affect DNA extraction
- ●Recent blood transfusion (within 2 weeks) may dilute nucleated cells
Compare With Similar Tests
| Test | CHEK2 Gene Li-Fraumeni syndrome type 2 NGS Genetic Test | TP53 Gene Full Sequencing | BRCA1/BRCA2 Gene Analysis | Multi-Gene Cancer Panel (e.g., 30 genes) |
|---|---|---|---|---|
| Comparison | CHEK2 Gene Li-Fraumeni syndrome type 2 NGS Genetic Test | TP53 is the primary gene associated with classic Li-Fraumeni syndrome. CHEK2 testing is complementary; some patients may have mutations in both genes. | BRCA mutations are more common in hereditary breast/ovarian cancer. CHEK2 testing is often done alongside BRCA for comprehensive risk assessment. | A panel includes CHEK2, TP53, BRCA, and other cancer susceptibility genes. This may be more cost-effective if multiple genes are suspected. |
Frequently Asked Questions
What is the CHEK2 gene?
What is Li-Fraumeni syndrome type 2?
How is the CHEK2 NGS genetic test performed?
What is the cost of the CHEK2 gene test in 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 for this test?
How long does it take to get results?
Is home sample collection available?
Will insurance cover this test?
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