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TSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic Test

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TSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic Test

Short Name: TSHR Gene Test

Also known as: Congenital Nongoitrous Hypothyroidism Type 1, TSHR Gene Mutation Test

TSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, 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 TestNeonatal/Pediatric🏠 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

The purpose of this test is to confirm a diagnosis of congenital nongoitrous hypothyroidism by analyzing the TSHR gene for mutations using Next-Generation Sequencing (NGS) technology. It helps identify the genetic cause, inform treatment decisions, and facilitate genetic counseling for families.

Test Code
2595
Price
₹20,000
Sample Type
Blood, 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

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

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Collect a blood sample via venipuncture or use an FTA card for one drop of blood.

Step 3

Report Delivery

Label the sample properly and transport it to the laboratory under ambient room temperature conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation are recommended to assess the need for testing.
2
During the Test:A non-invasive blood draw is performed; the procedure is quick and safe.
3
After the Test:Results are typically available in 3-4 weeks and can be accessed online or via email.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a diagnosis of congenital nongoitrous hypothyroidism by analyzing the TSHR gene for mutations using Next-Generation Sequencing (NGS) technology. It helps identify the genetic cause, inform treatment decisions, and facilitate genetic counseling for families.

How to Prepare

  • Ensure proper patient identification and labeling
  • Avoid hemolysis during blood collection
  • Use sterile equipment and follow aseptic techniques

Doctor's Notes

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

"This test is essential for confirming genetic causes of congenital hypothyroidism, aiding in early intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample VolumeStandard volume as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: 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
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TSHR gene, which can confirm congenital nongoitrous hypothyroidism.
📊

Positive for mutation

Confirms genetic cause of congenital nongoitrous hypothyroidism; guide treatment and genetic counseling.

📊

Negative for mutation

No pathogenic variants detected; consider other genetic or non-genetic causes of hypothyroidism.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of congenital hypothyroidism are present, such as poor growth or developmental delays, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all possible mutations in the TSHR gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results; counseling is advised

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Improper sample storage or handling

Compare With Similar Tests

TestTSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic TestTSH TestT4 TestThyroid UltrasoundOther Genetic Panels
ComparisonTSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic TestMeasures thyroid-stimulating hormone levels but does not identify genetic mutations.Assesses thyroid hormone levels but not specific genetic causes.Imaging study to evaluate thyroid structure, not genetic analysis.May include multiple genes, but this test focuses specifically on TSHR.

Frequently Asked Questions

What is the TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic Test?
It is a genetic test that analyzes the TSHR gene using Next-Generation Sequencing to identify mutations causing congenital nongoitrous hypothyroidism.
Why is this test recommended?
It is recommended to confirm a diagnosis of congenital nongoitrous hypothyroidism, especially in newborns with symptoms or positive screening results.
What are the symptoms of congenital nongoitrous hypothyroidism?
Symptoms include poor feeding, slow growth, constipation, delayed milestones, jaundice, puffy face, dry skin, thick tongue, and hoarse cry.
How is the test performed?
A small blood sample is collected, DNA is extracted, and analyzed using NGS technology to detect TSHR gene mutations.
What is the cost of the test?
The test costs INR 20,000 in India, with free home sample collection available.
Is fasting required for this test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
A positive result confirms a genetic mutation in the TSHR gene, while a negative result indicates no pathogenic variants were detected.
Is this test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY or CGHS, but check with private insurers.
Can this test be done at home?
Yes, free home sample collection is available for online bookings across India.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising. Genetic counseling is recommended to address psychological impacts.
Who should consider this test?
Individuals with symptoms of congenital hypothyroidism, positive newborn screening, or a family history of the condition should consider this test.
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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