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THRA Gene Hypothyroidism congenital nongoitrous type 6 NGS Genetic Test

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THRA Gene Hypothyroidism congenital nongoitrous type 6 NGS Genetic Test

Short Name: THRA Gene Test

Also known as: THRA-related hypothyroidism, Congenital hypothyroidism type 6, THRA gene disorder

THRA Gene Hypothyroidism congenital nongoitrous type 6 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestNeonatal and 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 identify pathogenic mutations in the THRA gene that cause congenital nongoitrous hypothyroidism type 6, enabling early diagnosis, personalized treatment planning, and informed genetic counseling for affected individuals and families.

Test Code
5445
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is required. Provide detailed clinical history and family pedigree during genetic counseling. Ensure informed consent is obtained.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or a finger-prick for FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply gentle pressure to the puncture site to prevent bruising. Resume normal activities immediately. Store the sample as instructed if self-collected.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test, implications, and consent. Provide family medical history and any prior test results.
2
During the Test:The sample is processed in the lab using NGS technology to sequence the THRA gene. The analysis is automated and precise.
3
After the Test:Receive the report via online portal, email, or WhatsApp. Discuss results with a genetic counselor or endocrinologist for next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the THRA gene that cause congenital nongoitrous hypothyroidism type 6, enabling early diagnosis, personalized treatment planning, and informed genetic counseling for affected individuals and families.

How to Prepare

  • Avoid strenuous exercise before sample collection
  • Bring identification and prescription or referral
  • For FTA card, ensure a clean finger-prick and proper drying
  • Label the sample correctly with patient details

Doctor's Notes

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

"Early genetic testing for THRA mutations can guide treatment and improve outcomes in congenital hypothyroidism, emphasizing the importance of timely diagnosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Room temperature
Refrigerated at 2-8°C
FTA card at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled or unlabeled samples
  • Contaminated or degraded samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the THRA gene. A negative result suggests no detected mutations, while a positive result confirms a genetic basis for congenital hypothyroidism type 6.
📊

Negative

No pathogenic variants detected in the THRA gene. Clinical symptoms may be due to other causes; further evaluation recommended.

📊

Positive

Pathogenic variant detected in the THRA gene, consistent with congenital nongoitrous hypothyroidism type 6. Genetic counseling and endocrine management advised.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown. Repeat testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if the test is positive, symptoms persist despite treatment, or for guidance on family planning and genetic risks. Immediate consultation is recommended for newborns with suspected hypothyroidism.

Limitations

  • ⚠May not detect all genetic variants or non-coding region mutations
  • ⚠Requires interpretation by a qualified geneticist or clinician
  • ⚠Not a standalone diagnostic tool; clinical correlation is essential
  • ⚠Limited to THRA gene analysis; other genetic causes may not be identified

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection or hematoma
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degraded DNA due to improper storage
  • ●Use of incorrect sample type or container
  • ●Recent blood transfusions affecting DNA analysis

Compare With Similar Tests

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ComparisonTHRA Gene Hypothyroidism congenital nongoitrous type 6 NGS Genetic Test

Frequently Asked Questions

What is THRA gene hypothyroidism?
THRA gene hypothyroidism is a rare genetic disorder caused by mutations in the THRA gene, leading to congenital nongoitrous hypothyroidism type 6, where the thyroid gland does not produce enough hormones from birth.
How is the THRA Gene Hypothyroidism NGS Genetic Test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood or saliva sample, detecting mutations in the THRA gene associated with the condition.
What is the cost of this genetic test in India?
The cost of the THRA Gene Hypothyroidism NGS Genetic Test at DNA Labs India is INR 20,000, which includes sample collection and analysis.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India, including Mumbai, Delhi, Bangalore, and more.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks after sample collection, via online portal, email, or WhatsApp.
What are the common symptoms of THRA gene hypothyroidism?
Symptoms may include jaundice, poor feeding, constipation, low body temperature, delayed development, and intellectual disability in newborns and infants.
Who should consider getting this genetic test?
Individuals with a family history of congenital hypothyroidism, newborns showing symptoms, or those with unexplained developmental delays should consider this test.
Is the test covered by insurance or government schemes?
Coverage varies; it is not typically covered by schemes like PMJAY or CGHS. Check with your insurance provider for private plan details.
What do the test results indicate?
A negative result means no pathogenic variants were detected, while a positive result confirms a THRA gene mutation, guiding diagnosis and treatment.
Are there any risks associated with this genetic test?
Risks are minimal, such as minor bruising from blood draw. Genetic counseling is provided to address psychological aspects of results.
How accurate is the NGS Genetic Test for THRA gene mutations?
NGS technology is highly accurate for detecting genetic variants, but accuracy depends on sample quality and interpretation by experts.
Can this test be performed on newborns?
Yes, the test is suitable for newborns and infants, using blood samples collected via heel-prick or venipuncture, and is crucial for early diagnosis.
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.

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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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