SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic Test
Short Name: SLC52A3 Gene BVVL1 NGS Test
Also known as: BVVL1, Brown-Vialetto-Van Laere syndrome type 1, SLC52A3-related riboflavin transporter deficiency
SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks of sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the SLC52A3 gene to confirm a diagnosis of Brown-Vialetto-Van Laere syndrome 1, guide treatment decisions, identify carriers, and facilitate genetic counseling for affected families.
- Test Code
- 2288
- 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 of sample collection.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing for confirmation
Sample Collection
No specific preparation required. Provide clinical history and pedigree chart during genetic counseling.
Method: Venipuncture or blood spot collection
Laboratory Analysis
A blood sample will be collected via venipuncture or a finger-prick for FTA card. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the collection site to prevent bruising. Resume normal activities immediately.
Timeline: Results are typically available within 3 to 4 weeks of sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the SLC52A3 gene to confirm a diagnosis of Brown-Vialetto-Van Laere syndrome 1, guide treatment decisions, identify carriers, and facilitate genetic counseling for affected families.
How to Prepare
- Schedule a home collection or visit a walk-in center
- Ensure the patient has provided informed consent
- Use sterile equipment for blood draw
- Label the sample correctly with patient details
- Transport sample at ambient temperature to the lab
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for confirming BVVL1 diagnosis in symptomatic individuals and identifying carriers for family planning. Early detection can guide management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
- Samples older than stability period
Understanding Your Results
One or more pathogenic variants detected in SLC52A3 gene, confirming diagnosis or carrier status. Recommend genetic counseling and clinical management.
Result type: Positive
No pathogenic variants detected. If symptoms persist, consider other differential diagnoses or additional genetic testing.
Result type: Negative
A variant with unknown clinical significance. Follow-up with genetic counseling and family studies recommended.
Result type: Variant of Uncertain Significance (VUS)
Consult a doctor if you experience symptoms of BVVL1, have a family history of the condition, or receive a positive test result for appropriate management and genetic counseling.
Limitations
- ⚠May not detect large genomic rearrangements or copy number variations
- ⚠Does not assess other genes associated with similar neurological disorders
- ⚠Results require clinical correlation and genetic counseling interpretation
Risks & Considerations
- ●Minimal risk from blood draw: slight pain, bruising, or infection at puncture site
- ●Psychological impact of results: consider genetic counseling support
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample volume
- ●Hemolyzed blood samples
- ●Previous blood transfusions within 4 weeks
Compare With Similar Tests
| Test | SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic Test | Sanger Sequencing | Whole Exome Sequencing | RSMC Carrier Screening |
|---|---|---|---|---|
| Comparison | SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic Test |
Frequently Asked Questions
What is Brown-Vialetto-Van Laere syndrome 1?
Why is the SLC52A3 Gene Test important?
Who should consider this test?
How is the test performed?
What is the cost of the test?
How long does it take to get results?
Is the test painful?
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What if my test result is positive?
What if my test result is negative?
Is genetic counseling recommended?
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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.
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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