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SLC19A3 Gene Encephalopathy thiamine-responsive NGS Genetic Test

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SLC19A3 Gene Encephalopathy thiamine-responsive NGS Genetic Test

Short Name: SLC19A3 NGS Test

Also known as: Thiamine-responsive encephalopathy genetic test, SLC19A3 gene NGS analysis, Biotin-thiamine-responsive basal ganglia disease test

SLC19A3 Gene Encephalopathy thiamine-responsive 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect mutations in the SLC19A3 gene that cause thiamine-responsive encephalopathy, enabling early diagnosis, treatment, and genetic counseling.

Test Code
4055
CPT Code
Not specified
ICD Code
Not specified
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 after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform your doctor about any medications or supplements you are taking.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood are spotted onto the card.

Step 3

Report Delivery

No post-collection precautions are needed. You can resume normal activities immediately.

Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. However, a prior genetic counseling session is recommended to discuss the implications of the test.
2
During the Test:A blood sample will be drawn, or an FTA card spot taken. The process takes only a few minutes.
3
After the Test:You will receive your report within 3 to 4 weeks. Paper-based results are also available if needed.

About This Test

Who Should Get This Test

To detect mutations in the SLC19A3 gene that cause thiamine-responsive encephalopathy, enabling early diagnosis, treatment, and genetic counseling.

How to Prepare

  • For blood sample: Collect 5 ml peripheral blood in an EDTA tube.
  • For FTA card: Spot one drop of blood onto the card and allow to air dry.
  • For extracted DNA: Place at least 2 μg of DNA in a sterile tube.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic counseling is essential for patients undergoing SLC19A3 gene testing to understand the implications of results and family planning options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood or 1-2 drops on FTA card or 2 μg extracted DNA
ContainerEDTA tube or FTA card or sterile tube
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

Blood/EDTA: stable at room temperature for up to 24 hours; refrigerated for 72 hours.
FTA card: stable at room temperature for weeks.
Extracted DNA: stable at -20°C for months.
Sample Rejection Criteria:
  • Hemolyzed or clotted blood
  • Insufficient sample quantity
  • Improperly labeled or leaky specimen

Understanding Your Results

This test detects mutations in the SLC19A3 gene. The presence of a pathogenic variant confirms the diagnosis of SLC19A3 gene encephalopathy thiamine-responsive. Absence of a mutation does not completely exclude the condition. Results should be interpreted by a clinical geneticist.
Positive result: A pathogenic variant was identified in SLC19A3, confirming the diagnosis.
Negative result: No pathogenic variant was found, but this does not exclude the disorder.
Variant of uncertain significance: Genetic testing found a variant whose clinical significance is unknown; further analysis/counseling is recommended.
⚠️ When to Consult a Doctor:

If you or your child experience symptoms suggestive of SLC19A3-related encephalopathy, or if a family member has been diagnosed with the disorder, consult a healthcare provider for genetic testing and counseling.

Limitations

  • ⚠This test only analyzes the SLC19A3 gene; other genetic causes of encephalopathy are not evaluated.
  • ⚠Large genomic deletions/duplications may not be detected by standard NGS.
  • ⚠Results should be interpreted in the context of clinical symptoms and biochemical findings.

Risks & Considerations

  • ●Risk of bleeding/bruising at venipuncture site
  • ●Risk of infection (rare)
  • ●Minor discomfort with blood draw

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample collection
  • ●Prior bone marrow transplantation (chimerism may affect NGS results)

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Frequently Asked Questions

What is the SLC19A3 gene encephalopathy thiamine-responsive NGS genetic test?
It is a next-generation sequencing test that analyzes the SLC19A3 gene to identify mutations responsible for thiamine-responsive encephalopathy.
What is the cost of the SLC19A3 gene NGS test?
The test costs INR 20000 at DNA Labs India, including free home sample collection.
What sample is needed for the test?
Blood (5 ml), extracted DNA, or one drop of blood on an FTA card can be used.
How long will the results take?
Reports are typically available within 3 to 4 weeks after the sample reaches the lab.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection in over 200 cities across India.
What technology is used for the test?
Next-generation sequencing (NGS) technology is used to read the DNA sequence of the SLC19A3 gene.
Who should consider taking this test?
Individuals with developmental delays, seizures, muscle weakness, or a family history of SLC19A3-related disorders may consider testing.
Can this test detect all types of mutations in SLC19A3?
NGS detects single nucleotide variants and small insertions/deletions. It may not detect large deletions/duplications that require additional analysis.
What does a positive test result mean?
A pathogenic mutation in the SLC19A3 gene confirms the diagnosis of thiamine-responsive encephalopathy.
What does a negative result mean?
A negative result means no pathogenic mutation was found, but it does not completely rule out the disorder if there are other genetic causes.
Is genetic counseling recommended with this test?
Yes, a genetic counseling session is recommended to understand the implications of the test results for you and your family.
How can I book the test?
You can book online at DNA Labs India's website or call the toll-free number.
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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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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