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SLC52A1 Gene Riboflavin deficiency NGS Genetic Test

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SLC52A1 Gene Riboflavin deficiency NGS Genetic Test

Short Name: SLC52A1 Riboflavin Deficiency Genetic Test

Also known as: SLC52A1 Gene Mutation Test, Riboflavin Transporter Deficiency NGS Test

SLC52A1 Gene Riboflavin deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the SLC52A1 gene that cause riboflavin transporter deficiency, aiding in diagnosis and management of related metabolic disorders.

Test Code
2235
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with riboflavin deficiency.

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or submission of extracted DNA or FTA card.

Step 3

Report Delivery

Sample is transported to the laboratory for NGS analysis and variant interpretation.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and review of clinical history and family pedigree.
2
During the Test:Sample collection and laboratory processing using NGS technology.
3
After the Test:Result analysis, report generation, and delivery via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To identify mutations in the SLC52A1 gene that cause riboflavin transporter deficiency, aiding in diagnosis and management of related metabolic disorders.

How to Prepare

  • Use sterile techniques for blood collection to prevent contamination
  • Store sample at ambient room temperature as indicated
  • Ensure proper labeling and documentation for accurate reporting

Doctor's Notes

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

"Early diagnosis through genetic testing can guide treatment and management of riboflavin deficiency, preventing complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card

Sample Stability

Ambient Room Temperature
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC52A1 gene associated with riboflavin transporter deficiency.
Positive: Pathogenic mutation detected, confirming genetic cause of riboflavin deficiency. Consult a geneticist for management.
Negative: No pathogenic variants detected. Symptoms may be due to other causes; further evaluation recommended.
Variant of Uncertain Significance (VUS): Genetic variant found but not definitively linked to disease. Repeat testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If you experience symptoms of riboflavin deficiency, have a family history of metabolic disorders, or need genetic counseling for personal or family planning.

Limitations

  • May not detect all possible genetic variants or mutations
  • Requires correlation with clinical symptoms and family history

Risks & Considerations

  • Minimal risk from blood draw, such as slight pain or bruising at the collection site

Interfering Factors

  • Poor DNA quality from sample
  • Sample contamination or mishandling

Frequently Asked Questions

What is the SLC52A1 Gene Riboflavin Deficiency NGS Genetic Test?
It is a genetic test using next-generation sequencing to detect mutations in the SLC52A1 gene, which causes riboflavin transporter deficiency, a metabolic disorder.
Why is this test important for diagnosing riboflavin deficiency?
While blood tests measure riboflavin levels, this test identifies genetic mutations, confirming inherited causes and guiding targeted treatment, especially when symptoms persist.
What are the common symptoms that indicate the need for this test?
Symptoms include cracks around the mouth, swollen tongue, light sensitivity, fatigue, confusion, and other signs of riboflavin deficiency, particularly with family history.
How is the test performed? What sample is required?
The test requires a blood sample, extracted DNA, or a blood spot on an FTA card. DNA Labs India offers free home sample collection for convenience.
What is the cost of the test in India?
The cost is approximately INR 20,000, which may vary slightly by lab and location. DNA Labs India offers this price with home collection included.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks, delivered via online portal, email, or WhatsApp.
Is home sample collection available?
Yes, DNA Labs India provides free home sample collection in numerous Indian cities, including Mumbai, Delhi, Bangalore, and others listed on the website.
What should I do before taking the test?
Before testing, provide your clinical history and undergo genetic counseling to draw a family pedigree chart, especially if there is a history of riboflavin deficiency.
How are the results interpreted?
Results indicate if pathogenic variants are detected (positive), not detected (negative), or of uncertain significance. Genetic counseling is recommended for interpretation.
What are the risks associated with the test?
Risks are minimal, primarily related to blood draw, such as slight pain or bruising. No significant health risks are involved.
Is the test covered by insurance or government schemes?
Coverage depends on your insurance policy. Check with providers for PMJAY, CGHS, ECHS, ESIC, or private insurance for details.
Where can I get this test done in India?
DNA Labs India offers this test nationwide with home collection in cities like Mumbai, Delhi, Bangalore, Hyderabad, and many more, as listed on their website.
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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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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