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DUOX1 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DUOX1 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test

Short Name: DUOX1 Genetic Test

Also known as: Thyroid Dyshormonogenesis Type 6 Genetic Test, DUOX1 NGS Test, DUOX1 Gene Mutation Analysis

DUOX1 Gene Thyroid dyshormonogenesis type 6 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify pathogenic mutations in the DUOX1 gene for diagnosing thyroid dyshormonogenesis type 6, aiding in accurate diagnosis, treatment planning, and genetic counseling.

Test Code
2650
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 special preparation required. Provide clinical history and undergo genetic counseling if recommended.

Method: Blood Collection

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist, or DNA sample collected as per instructions.

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:Consult with a genetic counselor to understand the test implications and provide informed consent.
2
During the Test:Sample collection procedure involves drawing blood or collecting DNA as per protocol.
3
After the Test:Wait for 3-4 weeks for results. Follow up with your doctor for interpretation and next steps.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the DUOX1 gene for diagnosing thyroid dyshormonogenesis type 6, aiding in accurate diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Bring a valid ID and doctor's prescription
  • Ensure sample is collected in a sterile environment
  • Follow instructions for FTA card if used

Doctor's Notes

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

"This test is essential for identifying genetic mutations in the DUOX1 gene, which can cause thyroid dyshormonogenesis, leading to various symptoms. Early diagnosis can guide appropriate treatment and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DUOX1 gene. Positive results confirm a genetic basis for thyroid dyshormonogenesis, while negative results may require further investigation.
📊

Positive for pathogenic variant

Confirms diagnosis of thyroid dyshormonogenesis type 6 due to DUOX1 gene mutation. Genetic counseling and targeted treatment recommended.

📊

Negative for pathogenic variant

No mutations detected in the DUOX1 gene. Symptoms may be due to other genetic or non-genetic factors. Clinical correlation advised.

📊

Variant of uncertain significance

A genetic variant was found, but its clinical significance is unknown. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

If you experience symptoms of thyroid dyshormonogenesis, have a family history of thyroid disorders, or receive abnormal test results, consult an endocrinologist or genetic specialist.

Limitations

  • Test may not detect all possible mutations in the DUOX1 gene
  • Results require interpretation by a genetic counselor or specialist
  • Does not rule out other genetic or non-genetic causes of thyroid disorders

Risks & Considerations

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

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Improper sample storage

Compare With Similar Tests

TestDUOX1 Gene Thyroid dyshormonogenesis type 6 NGS Genetic TestThyroid Function Test (TFT)Thyroid Ultrasound
ComparisonDUOX1 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test

Frequently Asked Questions

What is the DUOX1 Gene Thyroid Dyshormonogenesis Type 6 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to identify mutations in the DUOX1 gene, which can cause thyroid dyshormonogenesis type 6, a disorder affecting thyroid hormone production.
Who should consider this test?
Individuals with symptoms of thyroid dyshormonogenesis, such as delayed growth, fatigue, or goiter, or those with a family history of thyroid disorders.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, processing, and analysis.
How is the test performed?
The test is performed using NGS technology on a blood sample, extracted DNA, or a blood drop on an FTA card.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Positive results indicate a mutation in the DUOX1 gene, confirming genetic cause. Negative results mean no mutations detected, but symptoms may need further evaluation.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What are the symptoms of thyroid dyshormonogenesis?
Symptoms include delayed growth, constipation, dry skin, fatigue, intolerance to cold, weight gain, goiter, slow heart rate, and difficulty breathing.
Can this test be used for family planning?
Yes, genetic testing can help identify carriers and inform family planning decisions with genetic counseling.
Is the test accurate?
Yes, NGS technology provides high accuracy and sensitivity for detecting genetic mutations.
What should I do after receiving the results?
Consult with your healthcare provider or a genetic specialist to interpret the results and discuss treatment or management options.
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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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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