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SLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type NGS Genetic Test

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SLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type NGS Genetic Test

Short Name: SLC25A19 NGS Genetic Test

Also known as: Thiamine Metabolism Dysfunction Syndrome 4, SLC25A19-related polyneuropathy, Thiamine transporter deficiency

SLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type 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.

Next Generation Sequencing🏠 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 pathogenic variants in the SLC25A19 gene for diagnosis of Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type, enabling accurate clinical management and genetic counseling.

Test Code
4587
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 special preparation required. Genetic counseling recommended prior to testing.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation, followed by a genetic counseling session to explain results and next steps.

About This Test

Who Should Get This Test

To detect pathogenic variants in the SLC25A19 gene for diagnosis of Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient temperature

Doctor's Notes

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

"This test is essential for diagnosing rare genetic disorders affecting thiamine metabolism, which can present with neurological symptoms in both pediatric and adult patients. Early detection allows for tailored management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC25A19 gene, which is associated with Thiamine Metabolism Dysfunction Syndrome 4.
📊

Positive

Pathogenic variant detected, consistent with Thiamine Metabolism Dysfunction Syndrome 4. Clinical correlation and genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Symptoms may be due to other causes; further clinical evaluation advised.

📊

Variant of Uncertain Significance

A genetic variant was found but its clinical significance is unknown. Additional testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms such as peripheral neuropathy, muscle weakness, or vision loss persist, or if there is a family history of genetic disorders, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of test results
  • ●Potential for uncertain findings requiring further testing

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors during sequencing

Compare With Similar Tests

TestSLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type NGS Genetic TestWhole Exome SequencingTargeted Gene Panel for NeuropathySanger Sequencing
ComparisonSLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type NGS Genetic Test

Frequently Asked Questions

What is the SLC25A19 gene mutation?
The SLC25A19 gene mutation is a genetic alteration that affects thiamine (vitamin B1) metabolism, leading to Thiamine Metabolism Dysfunction Syndrome 4, a rare disorder causing neurological symptoms.
What are the symptoms of Thiamine Metabolism Dysfunction Syndrome 4?
Symptoms include peripheral neuropathy, muscle weakness, vision loss, intellectual disability, speech difficulties, and developmental delay, varying in severity among individuals.
How is the NGS Genetic Test performed?
The test uses Next Generation Sequencing (NGS) to analyze the SLC25A19 gene from a blood or DNA sample, detecting mutations with high accuracy.
What is the cost of the SLC25A19 Gene Test?
The test costs INR 20,000 at DNA Labs India, which includes sample collection, analysis, and genetic counseling.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic variants are detected in the SLC25A19 gene. Positive results confirm the disorder, while negative results suggest other causes may need investigation.
Is genetic counseling included?
Yes, a genetic counseling session is included to help interpret results and discuss implications for family planning and management.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible through specialized procedures; consult with a genetic counselor for options if there is a family history.
What are the treatment options after diagnosis?
Treatment focuses on symptom management, including thiamine supplements, physical therapy, occupational therapy, and assistive devices, under medical guidance.
Is the test covered by insurance?
Coverage varies by insurance provider; it is not typically covered under government schemes like PMJAY or CGHS, but check with your insurer.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting genetic variants, but results should be interpreted in clinical context with genetic counseling.
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

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.

LIMS Integration

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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