BAP1 Gene Tumor predisposition syndrome NGS Genetic Test
Short Name: BAP1 NGS
Also known as: BAP1 Cancer Risk Panel, BAP1 Germline Mutation Test
BAP1 Gene Tumor predisposition syndrome 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 3 to 4 weeks from sample receipt at the laboratory.. 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 NGS genetic test is to detect pathogenic mutations in the BAP1 gene that predispose individuals to a spectrum of cancers. It aids in confirming a clinical diagnosis of BAP1 tumor predisposition syndrome, identifying at-risk family members, and guiding cancer screening and prevention strategies. The test also helps in making informed decisions about prophylactic surgeries and targeted therapies, if applicable.
- Test Code
- 6026
- 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
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, it is recommended to bring any previous genetic test reports or family history documentation.
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 may resume normal activities immediately. There are no restrictions after sample collection.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to detect pathogenic mutations in the BAP1 gene that predispose individuals to a spectrum of cancers. It aids in confirming a clinical diagnosis of BAP1 tumor predisposition syndrome, identifying at-risk family members, and guiding cancer screening and prevention strategies. The test also helps in making informed decisions about prophylactic surgeries and targeted therapies, if applicable.
How to Prepare
- For blood sample: Use EDTA tube, fill to indicated mark, mix gently.
- For FTA card: Apply one drop of blood onto each circle, air dry for 30 minutes.
- Label the sample with patient name, date of birth, and collection date.
- Ship the sample at ambient temperature in a sealed biohazard bag.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early detection of BAP1 mutations enables proactive surveillance and risk management for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit without proper temperature control
Understanding Your Results
Positive (Pathogenic/Likely Pathogenic variant)
Confirms the diagnosis of BAP1 tumor predisposition syndrome. Increased cancer risk. Recommend enhanced surveillance and family testing.
Action: Genetic counseling, discuss prophylactic measures, and initiate cancer screening protocols.
Negative (No pathogenic variant)
No mutation detected in BAP1 gene. Reduces likelihood of BAP1 syndrome, but other hereditary causes may still be possible.
Action: Consider testing for other cancer predisposition genes if clinical suspicion remains high.
Variant of Uncertain Significance (VUS)
A genetic change was found, but its impact on health is unknown. It may be reclassified in the future.
Action: Additional family studies and functional assays may help clarify. Periodic re-evaluation of the variant is recommended.
If you have a personal or family history of BAP1-related cancers, or if you have been advised by a healthcare provider to undergo genetic testing, please consult an oncologist or genetic counselor to discuss the appropriateness of this test.
Limitations
- ⚠This test detects germline mutations only; somatic mutations in tumors are not assessed.
- ⚠Variants of uncertain significance (VUS) may be reported; additional family studies may be needed.
- ⚠Not all BAP1 mutations may be detected by NGS; large deletions/duplications are analyzed separately.
- ⚠Negative result does not rule out hereditary cancer risk due to other genes.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic test results
- ●Potential for incidental findings
Interfering Factors
- ●Contamination of sample with exogenous DNA
- ●Insufficient DNA quantity or quality
- ●Presence of hematologic malignancies may cause false negatives due to clonal hematopoiesis
- ●Recent blood transfusion (within 2 weeks) may dilute patient DNA
Compare With Similar Tests
| Test | BAP1 Gene Tumor predisposition syndrome NGS Genetic Test | Single Gene BAP1 Sequencing | Multi-Gene Cancer Panel |
|---|---|---|---|
| Comparison | BAP1 Gene Tumor predisposition syndrome NGS Genetic Test |
Frequently Asked Questions
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