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SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic Test

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SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic Test

Short Name: SLC52A2 BVVL Type 2 NGS Test

Also known as: BVVL Syndrome Type 2, Riboflavin Transporter Deficiency Type 2

SLC52A2 Gene Brown-Vialetto-Van Laere 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the SLC52A2 gene associated with Brown-Vialetto-Van Laere syndrome type 2, aiding in diagnosis, family planning, and targeted therapy.

Test Code
2285
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree chart after genetic counseling.

Method: Venipuncture or Blood Spot

Step 2

Laboratory Analysis

Blood draw by trained phlebotomist or use of FTA card for blood spot collection.

Step 3

Report Delivery

Apply pressure to puncture site; resume normal activities. Store sample at ambient temperature if needed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Sample collection via blood draw or blood spot; analysis in accredited laboratory.
3
After the Test:Results reviewed by a geneticist; report delivered with interpretation and recommendations.

About This Test

Who Should Get This Test

To identify mutations in the SLC52A2 gene associated with Brown-Vialetto-Van Laere syndrome type 2, aiding in diagnosis, family planning, and targeted therapy.

How to Prepare

  • Use sterile collection tubes
  • Label samples with patient details
  • Transport to lab within stability period

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This NGS test is essential for definitively diagnosing Brown-Vialetto-Van Laere syndrome, enabling timely management and family counseling for this rare genetic disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or Blood Spot

Sample Stability

Blood: 7 days at 2-8°C
Extracted DNA: 6 months at -20°C
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Unlabeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC52A2 gene. A positive result confirms BVVL type 2, while a negative result does not entirely rule out the condition.
📊

Pathogenic variant detected

Confirms diagnosis of Brown-Vialetto-Van Laere syndrome type 2

📊

No pathogenic variant detected

BVVL unlikely, but clinical correlation and further testing may be needed

📊

Variant of uncertain significance (VUS)

Genetic counseling and follow-up recommended

⚠️ When to Consult a Doctor:

If you experience symptoms like hearing loss, swallowing difficulties, or muscle weakness, or have a family history of BVVL, consult a neurologist or geneticist for evaluation.

Limitations

  • ⚠May not detect all genetic variants, such as large deletions or duplications
  • ⚠Results require correlation with clinical findings
  • ⚠Not a screening test for asymptomatic individuals

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Degraded DNA sample
  • ●Contamination during sample collection
  • ●Incorrect sample storage

Frequently Asked Questions

What is Brown-Vialetto-Van Laere syndrome type 2?
It is a rare genetic neurological disorder caused by mutations in the SLC52A2 gene, leading to hearing loss, muscle weakness, and other symptoms.
What are the symptoms of BVVL type 2?
Symptoms include hearing loss, difficulty swallowing, muscle weakness, respiratory failure, dizziness, and speech difficulties, which can appear at any age.
How is BVVL type 2 diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS of the SLC52A2 gene, along with clinical evaluation.
What does the SLC52A2 Gene NGS Genetic Test involve?
The test uses next-generation sequencing to analyze the SLC52A2 gene for mutations from a blood or DNA sample.
What is the cost of this genetic test in India?
The test costs INR 20000 at DNA Labs India, which includes sample collection and analysis.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Coverage varies by insurance plan; check with your provider. Some may cover genetic testing for medical necessity.
What should I do before getting tested?
A genetic counseling session is recommended to understand the test implications and provide family history.
Can this test be used for family planning?
Yes, genetic testing can help identify carriers and inform reproductive decisions for families with a history of BVVL.
What if the test result is positive?
A positive result confirms BVVL type 2, allowing for management such as riboflavin supplementation and supportive care.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as slight bruising, but is generally safe.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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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.

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