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DUOXA2 Gene Thyroid dyshormonogenesis type 5 NGS Genetic Test

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DUOXA2 Gene Thyroid dyshormonogenesis type 5 NGS Genetic Test

Short Name: DUOXA2 Gene NGS Test

Also known as: Thyroid Dyshormonogenesis Type 5 Genetic Test, DUOXA2 Mutation Analysis, Genetic Test for Thyroid Hormone Deficiency

DUOXA2 Gene Thyroid dyshormonogenesis 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 Test🏠 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 diagnose DUOXA2 gene mutations causing thyroid dyshormonogenesis type 5, enabling targeted treatment and genetic counseling.

Test Code
2646
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

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is drawn from a vein in the arm using standard venipuncture technique.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Wait for report delivery in 3-4 weeks and consult with a geneticist or endocrinologist for result interpretation.

About This Test

Who Should Get This Test

To diagnose DUOXA2 gene mutations causing thyroid dyshormonogenesis type 5, enabling targeted treatment and genetic counseling.

How to Prepare

  • Ensure patient provides detailed clinical history
  • Schedule a genetic counseling session prior to test
  • Use appropriate sample container (EDTA tube or FTA card)
  • Maintain sample at ambient room temperature

Doctor's Notes

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

"Early genetic diagnosis of DUOXA2 mutations can guide treatment for thyroid dyshormonogenesis and inform family planning decisions."

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 or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DUOXA2 gene. Positive results confirm a genetic diagnosis of thyroid dyshormonogenesis type 5.
📊

Pathogenic variant detected

Confirms diagnosis of thyroid dyshormonogenesis type 5 due to DUOXA2 mutation. Recommend treatment and genetic counseling.

📊

No pathogenic variant detected

DUOXA2 gene mutation not identified. Consider other genetic or non-genetic causes of thyroid dyshormonogenesis.

📊

Variant of uncertain significance

Further testing or family studies may be needed. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

If symptoms of thyroid dyshormonogenesis persist, or if there is a family history of thyroid disorders, consult an endocrinologist or geneticist for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all genetic variants or novel mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection at the site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is the DUOXA2 Gene Thyroid Dyshormonogenesis Type 5 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the DUOXA2 gene, which cause thyroid dyshormonogenesis type 5, a condition affecting thyroid hormone production.
Who should consider this test?
Individuals with symptoms of thyroid dyshormonogenesis, such as slow growth, fatigue, weight gain, or a family history of thyroid disorders, should consider this test.
What are the symptoms of thyroid dyshormonogenesis type 5?
Symptoms include slow growth, fatigue, weight gain, cold intolerance, dry skin, constipation, hoarseness, joint pain, and irregular menstrual periods.
How is the test performed?
The test involves collecting a blood sample, which is then analyzed using NGS technology to sequence the DUOXA2 gene for mutations.
What is the cost of the test in India?
The cost is approximately INR 20,000, with possible variations based on location and laboratory.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of a pathogenic DUOXA2 gene mutation, confirming a diagnosis of thyroid dyshormonogenesis type 5.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after the test to discuss implications, inheritance risks, and family planning.
Can this test be used for prenatal diagnosis?
It may be used in certain cases with appropriate genetic counseling, but consult a geneticist for specific guidance.
What are the risks of the test?
The test involves minimal risks from blood draw, such as bruising or infection, but no significant health risks.
How accurate is the test?
The test is highly accurate for detecting known mutations in the DUOXA2 gene, but may not identify all genetic variants. Results should be interpreted by a healthcare professional.
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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