TSHB Gene Hypothyroidism congenital nongoitrous type 4 NGS Genetic Test
Short Name: TSHB Gene Hypothyroidism NGS Test
Also known as: TSHB Gene Mutation Analysis, Congenital Hypothyroidism Type 4 Genetic Test
TSHB Gene Hypothyroidism congenital nongoitrous type 4 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic variants in the TSHB gene that cause congenital nongoitrous type 4 hypothyroidism, aiding in accurate diagnosis, genetic counseling, and tailored treatment plans to prevent complications such as developmental delays.
- Test Code
- 2596
- 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)
Sample Collection
Provide detailed clinical and family history. No specific fasting required, but follow standard blood draw preparation.
Method: Venipuncture or Finger prick
Laboratory Analysis
A blood sample will be collected via venipuncture or finger prick. For FTA card, a single drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the TSHB gene that cause congenital nongoitrous type 4 hypothyroidism, aiding in accurate diagnosis, genetic counseling, and tailored treatment plans to prevent complications such as developmental delays.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile collection equipment
- Avoid hemolysis by gentle handling of blood samples
- For FTA cards, allow blood to dry completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for TSHB gene mutations is essential for timely diagnosis and management of congenital hypothyroidism, preventing developmental delays and improving outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or contaminated samples
- Improperly labeled or stored samples
Understanding Your Results
No pathogenic variants detected
Normal result; hypothyroidism may have other causes. Clinical correlation is advised.
Pathogenic variant detected
Confirms congenital nongoitrous type 4 hypothyroidism. Genetic counseling and targeted therapy recommended.
Variant of uncertain significance
Further testing or family studies may be needed. Consult a geneticist for guidance.
Consult a doctor if you experience symptoms of hypothyroidism, have a family history of thyroid disorders, or receive abnormal results from this test for appropriate management and genetic counseling.
Limitations
- ⚠May not detect all possible genetic variants or epigenetic factors
- ⚠Requires integration with clinical findings and family history for accurate interpretation
- ⚠Genetic counseling is recommended before and after testing
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Presence of inhibitors in the sample affecting NGS sequencing
Compare With Similar Tests
| Test | TSHB Gene Hypothyroidism congenital nongoitrous type 4 NGS Genetic Test | TSH Blood Test | Thyroid Panel | Thyroid Ultrasound | Other Genetic Panels |
|---|---|---|---|---|---|
| Comparison | TSHB Gene Hypothyroidism congenital nongoitrous type 4 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.
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