VHL Gene von Hippel-Lindau syndrome NGS Genetic Test
Short Name: VHL NGS Test
Also known as: VHL Gene Mutation Test, Von Hippel-Lindau Genetic Test, VHL NGS Panel
VHL Gene von Hippel-Lindau 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 Reports are typically delivered within 3 to 4 weeks after the sample is received at 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 the VHL Gene NGS Genetic Test is to confirm or rule out a diagnosis of Von Hippel-Lindau syndrome by identifying pathogenic mutations in the VHL gene. This test is indicated for individuals with clinical features suggestive of VHL, such as multiple hemangioblastomas, renal cell carcinoma at a young age, pheochromocytoma, or a family history of VHL. Genetic testing also enables predictive testing for at-risk family members, allowing for early surveillance and preventive measures. Additionally, the test aids in genetic counseling and reproductive decision-making.
- Test Code
- 6031
- CPT Code
- 81405
- ICD Code
- Q85.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with VHL syndrome are recommended before the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by venipuncture or fingerstick onto an FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. Patients can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the VHL Gene NGS Genetic Test is to confirm or rule out a diagnosis of Von Hippel-Lindau syndrome by identifying pathogenic mutations in the VHL gene. This test is indicated for individuals with clinical features suggestive of VHL, such as multiple hemangioblastomas, renal cell carcinoma at a young age, pheochromocytoma, or a family history of VHL. Genetic testing also enables predictive testing for at-risk family members, allowing for early surveillance and preventive measures. Additionally, the test aids in genetic counseling and reproductive decision-making.
How to Prepare
- Ensure the patient's identity is verified.
- Use EDTA vacutainer for blood collection or FTA card for dried blood spot.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature within 24 hours.
- Avoid hemolysis or clotting of the sample.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of VHL syndrome enables proactive surveillance and timely intervention, significantly reducing morbidity and mortality associated with associated tumors."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Sample received after prolonged storage or improper temperature
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of VHL syndrome. Genetic counseling and surveillance for associated tumors are recommended.
Negative (No pathogenic variant detected)
Does not rule out VHL syndrome if clinical suspicion is high. Consider other genetic causes or re-evaluation.
Variant of Uncertain Significance (VUS)
A variant with unknown clinical significance. Further family segregation studies may help clarify.
If you have symptoms suggestive of VHL syndrome (e.g., headaches, dizziness, hearing loss, abdominal pain, blood in urine) or a family history of VHL, consult an oncologist or genetic counselor for evaluation and testing.
Limitations
- ⚠This test detects mutations in the VHL gene only; other genes associated with VHL-like phenotypes are not analyzed.
- ⚠Large genomic rearrangements may not be detected by sequencing alone; deletion/duplication analysis is included but may miss complex rearrangements.
- ⚠Variants of uncertain significance (VUS) may be reported; further family studies may be required.
- ⚠This test does not assess the functional impact of variants.
- ⚠Negative result does not completely exclude VHL syndrome if clinical suspicion is high; other genetic causes may be considered.
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Presence of hematological malignancies may cause dilution of target DNA
- ●Maternal cell contamination in prenatal samples
- ●Sample degradation due to improper storage or transport
- ●Recent blood transfusion may affect DNA quality
Compare With Similar Tests
| Test | VHL Gene von Hippel-Lindau syndrome NGS Genetic Test | Sanger Sequencing | MLPA | NGS Panel (Multi-gene) |
|---|---|---|---|---|
| Comparison | VHL Gene von Hippel-Lindau syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the VHL Gene NGS Genetic Test at DNA Labs India?
What sample is required for the VHL gene test?
How long does it take to get the results?
Is fasting required before the test?
Can the test be done at home?
What does the NGS test detect?
Who should consider this test?
Is genetic counseling included?
What is the accuracy of the NGS test?
Are there any risks associated with the test?
Can the test be done for prenatal diagnosis?
What if the result is negative but I still have symptoms?
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