SUFU Gene Medulloblastoma, desmoplastic, familial NGS Genetic Test
Short Name: SUFU Gene NGS Test
Also known as: SUFU Gene Mutation Analysis, Desmoplastic Medulloblastoma Genetic Panel, Familial Medulloblastoma NGS Test
SUFU Gene Medulloblastoma, desmoplastic, familial 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 delivered within 3 to 4 weeks after sample receipt.. 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 purpose of this test is to detect mutations in the SUFU gene that are associated with desmoplastic medulloblastoma, particularly in familial cases. It aids in confirming diagnosis, assessing hereditary risk, guiding treatment decisions (e.g., SHH pathway inhibitors), and enabling reproductive planning for affected families.
- Test Code
- 6001
- CPT Code
- 81479
- ICD Code
- C71.6
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. Avoid blood transfusion for 2 weeks prior. Inform lab about any recent chemotherapy or radiation.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist. For FTA card, a fingerstick blood drop is collected.
Report Delivery
No special precautions. Resume normal activities immediately.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the SUFU gene that are associated with desmoplastic medulloblastoma, particularly in familial cases. It aids in confirming diagnosis, assessing hereditary risk, guiding treatment decisions (e.g., SHH pathway inhibitors), and enabling reproductive planning for affected families.
How to Prepare
- For blood: Use EDTA vacutainer, mix gently.
- For FTA card: Apply blood spots, air dry for 1 hour.
- Label sample with patient ID and date.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for SUFU mutations is crucial for familial desmoplastic medulloblastoma, guiding targeted therapy and family screening."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient DNA quantity (<1 µg)
- Improperly labeled sample
- Sample received after prolonged transit (>72 hours)
Understanding Your Results
Positive (pathogenic variant)
Confirms genetic predisposition; recommend genetic counseling and family screening.
Negative (no variant)
Reduces likelihood of hereditary SUFU-related medulloblastoma; consider other genetic causes.
Variant of Uncertain Significance (VUS)
Further testing of family members may help clarify pathogenicity.
Consult your oncologist or genetic counselor if you have a family history of medulloblastoma, or if you experience persistent headaches, balance issues, or vision changes.
Limitations
- ⚠This test only analyzes the SUFU gene; other genes may also be implicated.
- ⚠Large deletions/duplications may not be detected by standard NGS.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Somatic mutations in tumor tissue are not detected by this germline test.
Risks & Considerations
- ●Minimal risk of bruising at venipuncture site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplant (may affect germline testing)
Compare With Similar Tests
| Test | SUFU Gene Medulloblastoma, desmoplastic, familial NGS Genetic Test | Single Gene SUFU Sequencing | Medulloblastoma Panel (Multi-gene) |
|---|---|---|---|
| Comparison | SUFU Gene Medulloblastoma, desmoplastic, familial NGS Genetic Test |
Frequently Asked Questions
What is the SUFU gene?
Who should get this test?
What does the test cost?
How is the sample collected?
Do I need to fast before the test?
How long does it take to get results?
Will I receive raw data files?
What is the difference between germline and somatic testing?
Can this test be done for children?
What if the result is positive?
Is the test NABL accredited?
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Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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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