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DUOX2 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test

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DUOX2 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test

Also known as: Thyroid Dyshormonogenesis Type 6, DUOX2 Gene Mutation Test

DUOX2 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose mutations in the DUOX2 gene causing thyroid dyshormonogenesis type 6, facilitating early management and genetic counseling.

Test Code
2643
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 (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree for genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to understand test implications and provide informed consent.
2
During the Test:Sample collection as per standard phlebotomy procedures.
3
After the Test:Results available in 3-4 weeks. Follow up with healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose mutations in the DUOX2 gene causing thyroid dyshormonogenesis type 6, facilitating early management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is crucial for early diagnosis and management of thyroid dyshormonogenesis, preventing developmental delays and enabling personalized treatment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DUOX2 gene, guiding diagnosis and management.
📊

Positive for pathogenic variant

Confirms diagnosis of thyroid dyshormonogenesis type 6. Consult an endocrinologist for management and genetic counseling.

📊

Negative

No pathogenic variants detected. Consider other causes if symptoms persist and follow up with a healthcare provider.

📊

Variant of uncertain significance

Further testing or family studies may be required for clarification. Genetic counseling recommended.

⚠️ When to Consult a Doctor:

If symptoms of hypothyroidism or developmental delays are present, or if there is a family history of genetic thyroid disorders, consult a healthcare provider for evaluation.

Limitations

  • ⚠May not detect all mutations
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, addressed through counseling

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestDUOX2 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test
ComparisonDUOX2 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test

Frequently Asked Questions

What is DUOX2 Gene Thyroid Dyshormonogenesis Type 6?
It is a rare genetic disorder caused by mutations in the DUOX2 gene, leading to thyroid hormone deficiency and symptoms like goiter and developmental delays.
How is the test conducted?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample for mutations in the DUOX2 gene.
What are the common symptoms?
Symptoms include goiter, hypothyroidism, delayed growth, cognitive impairment, and speech and language delays.
Who should consider this test?
Individuals with symptoms of thyroid dyshormonogenesis, family history of the disorder, or unexplained hypothyroidism should consider this test.
What is the cost of the test in India?
The test costs INR 20,000, which includes home sample collection and genetic counseling.
Is home sample collection available?
Yes, free home collection is available across many cities in India for online bookings.
How long does it take to receive results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result indicate?
A positive result confirms the presence of pathogenic variants in the DUOX2 gene, indicating thyroid dyshormonogenesis type 6.
Is genetic counseling provided?
Yes, genetic counseling is included to help interpret results and discuss implications for patients and families.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, including children, for early diagnosis.
What are the treatment options after diagnosis?
Treatment may include thyroid hormone replacement therapy and regular monitoring by an endocrinologist.
How accurate is the NGS method?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted by a genetic specialist for clinical relevance.
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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