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GNAS Gene Pseudohypoparathyroidism type 1B NGS Genetic Test

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GNAS Gene Pseudohypoparathyroidism type 1B NGS Genetic Test

Also known as: PHP1B genetic test, GNAS gene mutation test

GNAS Gene Pseudohypoparathyroidism type 1B 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 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To diagnose pseudohypoparathyroidism type 1B by analyzing the GNAS gene for mutations, aiding in clinical management and genetic counseling.

Test Code
5499
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with PHP1B.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture; sample collected in appropriate container.

Step 3

Report Delivery

Sample labeled, stored at ambient temperature, and shipped to laboratory for analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review recommended.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Sample processing and analysis in laboratory; results delivered in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose pseudohypoparathyroidism type 1B by analyzing the GNAS gene for mutations, aiding in clinical management and genetic counseling.

How to Prepare

  • Use blood or extracted DNA sample
  • For FTA card, use one drop of blood
  • Ensure proper labeling and handling

Doctor's Notes

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

"Genetic testing for GNAS mutations is essential for confirming PHP1B diagnosis and informing family planning and treatment strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GNAS gene. Consult a geneticist for detailed interpretation.
📊

Pathogenic variant detected

Confirms diagnosis of PHP1B; genetic counseling recommended.

📊

No pathogenic variant detected

PHP1B unlikely, but clinical correlation needed if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms such as muscle cramps, seizures, or numbness persist, or if genetic test results are abnormal.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection

Frequently Asked Questions

What is pseudohypoparathyroidism type 1B (PHP1B)?
PHP1B is a rare genetic disorder where the body cannot respond properly to parathyroid hormone, leading to low calcium and high phosphate levels.
What does the GNAS Gene Pseudohypoparathyroidism type 1B NGS Genetic Test involve?
It analyzes the GNAS gene using Next-Generation Sequencing to detect mutations associated with PHP1B.
Who should consider this test?
Individuals with symptoms like muscle cramps, seizures, numbness, or a family history of PHP1B.
What is the cost of the test in India?
The test costs INR 20000, with home sample collection available.
How is the sample collected?
A blood sample is collected via venipuncture, or extracted DNA or a blood drop on an FTA card can be used.
Is fasting required for the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available within 3-4 weeks.
What do the results indicate?
Results show if pathogenic variants are present in the GNAS gene, confirming or ruling out PHP1B.
Is genetic counseling recommended?
Yes, genetic counseling before and after testing is advised to understand implications.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer.
Where can I get this test done?
DNA Labs India offers this test with home collection across many cities in India.
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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