TRHR Gene Hypothyroidism, isolated, TRHR related NGS Genetic Test
Short Name: TRHR Hypothyroidism NGS Test
Also known as: TRHR Gene Test, Hypothyroidism Genetic Test, TRHR Mutation Analysis
TRHR Gene Hypothyroidism, isolated, TRHR related 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 Results are typically available within 3 to 4 weeks after sample receipt.. 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
The purpose of the TRHR Gene Hypothyroidism Test is to identify mutations in the TRHR gene that cause isolated hypothyroidism. This genetic diagnosis helps in confirming the condition, understanding its genetic basis, and guiding personalized treatment plans.
- Test Code
- 2605
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Provide detailed clinical and family history to the healthcare provider.
Method: Venipuncture or Saliva Collection
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a saliva sample will be collected using a kit.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding. Resume normal activities.
Timeline: Results are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TRHR Gene Hypothyroidism Test is to identify mutations in the TRHR gene that cause isolated hypothyroidism. This genetic diagnosis helps in confirming the condition, understanding its genetic basis, and guiding personalized treatment plans.
How to Prepare
- Ensure the sample is labeled correctly
- Follow instructions for saliva collection if applicable
- Transport the sample to the lab as per guidelines
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for TRHR gene mutations can provide definitive diagnosis for isolated hypothyroidism, guiding personalized treatment and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Contaminated sample
- Incorrect sample type
Understanding Your Results
Positive
Pathogenic variant(s) detected in the TRHR gene, confirming genetic cause of hypothyroidism.
Negative
No pathogenic variants detected in the TRHR gene. Hypothyroidism may be due to other causes.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Further testing or family studies may be needed.
Consult a doctor if you have symptoms of hypothyroidism, abnormal thyroid test results, or a family history of thyroid disorders. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions, intronic variants)
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Genetic testing does not replace clinical diagnosis
- ⚠Variants of uncertain significance may be identified
Risks & Considerations
- ●Psychological impact of genetic results
- ●Potential for incidental findings
- ●Privacy and confidentiality concerns
- ●No physical risks from sample collection
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample collection or storage
- ●Presence of inhibitors in the sample
Compare With Similar Tests
| Test | TRHR Gene Hypothyroidism, isolated, TRHR related NGS Genetic Test | Thyroid Function Test (TFT) | TSH Test | Genetic Panel for Hypothyroidism |
|---|---|---|---|---|
| Comparison | TRHR Gene Hypothyroidism, isolated, TRHR related NGS Genetic Test |
Frequently Asked Questions
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₹20,000Reference 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.
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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