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TPO Gene Thyroid dyshormonogenesis type 2A NGS Genetic Test

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TPO Gene Thyroid dyshormonogenesis type 2A NGS Genetic Test

Short Name: TPO Gene Thyroid Dyshormonogenesis Type 2A Test

Also known as: TPO Gene Mutation Test, Thyroid Peroxidase Gene Test

TPO Gene Thyroid dyshormonogenesis type 2A 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the TPO gene associated with thyroid dyshormonogenesis type 2A, aiding in diagnosis and genetic counseling.

Test Code
2651
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. Inform the healthcare provider about any medications or supplements.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm. The process takes a few minutes.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No fasting required. Provide clinical history and family pedigree.
2
During the Test:Blood sample collection for DNA extraction.
3
After the Test:Wait for report in 3-4 weeks. Genetic counseling may be advised.

About This Test

Who Should Get This Test

To identify mutations in the TPO gene associated with thyroid dyshormonogenesis type 2A, aiding in diagnosis and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for TPO mutations is essential for early detection and management of thyroid dyshormonogenesis, particularly in patients with a family history of thyroid disorders."

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 sample stable for 48 hours at 2-8°C
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the TPO gene. A positive result confirms genetic predisposition to thyroid dyshormonogenesis type 2A.
📊

No mutation detected

Normal TPO gene sequence, low risk for type 2A

📊

Pathogenic variant detected

Confirms diagnosis, genetic counseling recommended

⚠️ When to Consult a Doctor:

If you experience symptoms of thyroid disorder or have a family history of thyroid dyshormonogenesis, consult a healthcare provider for genetic testing.

Limitations

  • May not detect all types of TPO mutations
  • Requires genetic counseling for interpretation
  • Results may vary based on sample quality

Risks & Considerations

  • Minor bruising at puncture site
  • Rare infection risk
  • Slight discomfort during blood draw

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed blood sample

Compare With Similar Tests

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ComparisonTPO Gene Thyroid dyshormonogenesis type 2A NGS Genetic Test

Frequently Asked Questions

What is TPO Gene Thyroid Dyshormonogenesis Type 2A?
It is a rare genetic disorder caused by mutations in the TPO gene, leading to impaired thyroid hormone production.
What are the symptoms of this condition?
Symptoms include enlarged thyroid gland, difficulty breathing or swallowing, sleep disturbances, weight changes, fatigue, and irregular menstrual periods.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the TPO gene from a blood sample or extracted DNA.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What is the cost of the test?
The cost is INR 20000, which includes home sample collection across India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in numerous cities across India.
What does a positive result mean?
A positive result indicates the presence of a TPO gene mutation, confirming a diagnosis of thyroid dyshormonogenesis type 2A.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; consult a genetic counselor for prenatal options.
Are there any risks associated with the test?
Risks are minimal and include minor bruising, rare infection, or slight discomfort during blood draw.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting TPO gene mutations, but may not identify all variants.
What should I do after receiving the results?
Consult a healthcare provider or genetic counselor for interpretation and management guidance.
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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