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TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test

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TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test

Short Name: TPK1 Gene THMD5 Genetic Test

Also known as: THMD5, Thiamine metabolism dysfunction syndrome type 5

TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the TPK1 Gene THMD5 NGS Genetic Test is to diagnose Thiamine Metabolism Dysfunction Syndrome Type 5 by identifying mutations in the TPK1 gene. This helps in confirming the genetic basis of the disorder, facilitating early intervention, and informing family planning decisions.

Test Code
2257
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
NGS Technology
Step 1

Sample Collection

No specific preparation is required, but genetic counseling is recommended prior to testing to discuss implications and consent.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for a drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Avoid strenuous activity for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are recommended. No fasting required.
2
During the Test:Blood sample collected via standard venipuncture or FTA card method.
3
After the Test:Results available in 3 to 4 weeks; follow-up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of the TPK1 Gene THMD5 NGS Genetic Test is to diagnose Thiamine Metabolism Dysfunction Syndrome Type 5 by identifying mutations in the TPK1 gene. This helps in confirming the genetic basis of the disorder, facilitating early intervention, and informing family planning decisions.

How to Prepare

  • Ensure patient identity is verified
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Early genetic testing for THMD5 is crucial for timely intervention and management of symptoms, improving patient outcomes."

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
ContainerEDTA tube
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 or lipemic samples
  • Incorrectly labeled or unlabeled samples
  • Samples older than 48 hours at room temperature

Understanding Your Results

Results from the TPK1 Gene THMD5 NGS Genetic Test indicate the presence or absence of mutations in the TPK1 gene. Positive results confirm a diagnosis of THMD5, while negative results may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of THMD5; genetic counseling and management advised

📊

Negative for pathogenic variant

THMD5 unlikely, but clinical correlation needed; consider other tests

📊

Variant of uncertain significance (VUS)

Further testing or family studies recommended; not diagnostic

⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms suggestive of THMD5 are present, after a positive test result, or for family members at risk. Genetic counseling is essential for understanding results and implications.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or rearrangements
  • ⚠Interpretation requires correlation with clinical symptoms and family history
  • ⚠Test results do not predict disease severity or progression

Risks & Considerations

  • ●Minor bruising or discomfort at puncture site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample degradation or contamination
  • ●Hemolyzed or insufficient sample volume
  • ●Previous blood transfusions within 4 weeks

Frequently Asked Questions

What is Thiamine Metabolism Dysfunction Syndrome Type 5 (THMD5)?
THMD5 is a rare genetic disorder caused by mutations in the TPK1 gene, affecting thiamine metabolism and leading to symptoms like developmental delay, muscle weakness, and seizures.
What causes THMD5?
THMD5 is caused by mutations in the TPK1 gene, which is essential for converting thiamine into its active form for energy production.
What are the common symptoms of THMD5?
Symptoms include developmental delay, intellectual disability, muscle wasting, difficulty swallowing, heart problems, seizures, and respiratory failure.
How is THMD5 diagnosed?
Diagnosis is typically through genetic testing, such as the TPK1 Gene NGS Genetic Test, which identifies mutations in the TPK1 gene.
What is the cost of the TPK1 Gene THMD5 NGS Genetic Test in India?
The cost is approximately INR 20,000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive test result mean?
A positive result confirms the presence of pathogenic variants in the TPK1 gene, indicating a diagnosis of THMD5. Genetic counseling is advised.
Is the test covered by insurance?
Coverage varies by insurance scheme. It is generally not covered under government schemes like PMJAY, CGHS, ECHS, or ESIC; check with private insurers.
Can this test be done at any age?
Yes, the test is suitable for all ages, especially for individuals with symptoms or family history of THMD5.
What is the significance of the TPK1 gene?
The TPK1 gene encodes an enzyme crucial for thiamine metabolism. Mutations lead to enzyme deficiency, causing THMD5 symptoms.
How should I prepare for the test?
No special preparation is required, but genetic counseling is recommended to understand the test implications and provide informed consent.
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.

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✓ 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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