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PAX8 Gene Hypothyroidism congenital nongoitrous type 2, familial NGS Genetic Test

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PAX8 Gene Hypothyroidism congenital nongoitrous type 2, familial NGS Genetic Test

Also known as: PAX8-related congenital hypothyroidism, Familial congenital nongoitrous hypothyroidism type 2

PAX8 Gene Hypothyroidism congenital nongoitrous type 2, familial 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the PAX8 gene associated with congenital nongoitrous hypothyroidism type 2 for early diagnosis, treatment planning, and genetic counseling.

Test Code
2599
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
Step 1

Sample Collection

Provide detailed clinical history and family pedigree during genetic counseling session.

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Sample will be processed for DNA extraction and next-generation sequencing analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications and obtain informed consent.
2
During the Test:The test involves next-generation sequencing of the PAX8 gene from the provided sample.
3
After the Test:Results will be reviewed by a geneticist and a comprehensive report will be generated.

About This Test

Who Should Get This Test

To identify mutations in the PAX8 gene associated with congenital nongoitrous hypothyroidism type 2 for early diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • No fasting required unless specified by physician
  • Bring valid ID and prescription or referral
  • Inform about any medications or recent treatments

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for PAX8 mutations is crucial for early diagnosis and management of congenital hypothyroidism, enabling targeted treatment and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PAX8 gene, aiding in diagnosis and management.
Positive: Pathogenic variant detected, confirming diagnosis of PAX8-related hypothyroidism
Negative: No pathogenic variants detected, but clinical correlation is necessary
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms of hypothyroidism are present, if genetic testing is recommended by a healthcare provider, or for family planning counseling.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Variants of uncertain significance may be identified
  • ⚠Requires correlation with clinical findings and genetic counseling

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Potential psychological impact of genetic results
  • ●Implications for family members

Interfering Factors

  • ●Sample degradation or contamination
  • ●Technical errors during sequencing
  • ●Insufficient DNA quantity or quality

Frequently Asked Questions

What is PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2?
It is a rare genetic disorder caused by mutations in the PAX8 gene, leading to congenital hypothyroidism without goiter, characterized by underactive thyroid function from birth.
What are the common symptoms of this condition?
Symptoms include fatigue, weight gain, constipation, dry skin, feeling cold, depression, and slow growth and development in infants and children.
How is PAX8 Gene Hypothyroidism diagnosed?
Diagnosis involves clinical evaluation, blood tests for thyroid hormones and TSH, imaging like ultrasound, and genetic testing such as NGS to identify PAX8 mutations.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a advanced technology that analyzes multiple genes simultaneously, providing comprehensive genetic evaluation for conditions like PAX8-related hypothyroidism.
What is the cost of the PAX8 Gene Hypothyroidism NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test unless specified by your physician.
Who should consider getting this test?
Individuals with symptoms of hypothyroidism, family history of congenital hypothyroidism, or those recommended by a healthcare provider for genetic evaluation.
What are the risks associated with this test?
Risks are minimal and include potential bruising from blood draw, psychological impact of results, and implications for family members.
How can I prepare for the test?
Prepare by providing clinical history, attending genetic counseling, and ensuring proper sample collection as per instructions.
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

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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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