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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
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
Sample Collection
No special preparation required. Provide clinical history and undergo genetic counseling if recommended.
Method: Blood Collection
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist, or DNA sample collected as per instructions.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Keep the area clean.
Timeline: 3 to 4 weeks
Patient Instructions
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 Dr SULOCHANA HEMCHANDRA HOLLA — 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 Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Contaminated sample
Understanding Your Results
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.
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
| Test | DUOX1 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test | Thyroid Function Test (TFT) | Thyroid Ultrasound |
|---|---|---|---|
| Comparison | DUOX1 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test |
Frequently Asked Questions
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