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GNAS Gene Osseous heteroplasia, progressive NGS Genetic Test

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GNAS Gene Osseous heteroplasia, progressive NGS Genetic Test

Short Name: GNAS Gene Osseous Heteroplasia Test

GNAS Gene Osseous heteroplasia, progressive 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.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the GNAS gene that cause progressive osseous heteroplasia, enabling accurate diagnosis, genetic counseling, and informed management decisions.

Test Code
5081
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card.

Step 3

Report Delivery

Sample will be processed for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection.
3
After the Test:Sample analysis and report generation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the GNAS gene that cause progressive osseous heteroplasia, enabling accurate diagnosis, genetic counseling, and informed management decisions.

How to Prepare

  • Fast for 8-10 hours if required, but typically not needed
  • Bring identification and prescription
  • Inform about any medications

Doctor's Notes

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

"Genetic testing for GNAS mutations is crucial for early diagnosis and management of progressive osseous heteroplasia, helping in family planning and treatment decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GNAS gene.
📊

Negative

No pathogenic variants detected. Clinical correlation recommended.

📊

Positive

Pathogenic variant detected. Confirm diagnosis and consider genetic counseling.

⚠️ When to Consult a Doctor:

If symptoms such as bone formation in soft tissues, joint stiffness, or developmental delays are present, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising or infection at puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Frequently Asked Questions

What is GNAS gene osseous heteroplasia?
It is a rare genetic disorder caused by mutations in the GNAS gene, leading to bone formation in soft tissues like muscles and skin.
What are the common symptoms?
Symptoms include bone formation in soft tissues, restricted joint movement, pain, stiffness, developmental delay, and short stature.
How is it diagnosed?
Diagnosis involves imaging tests (X-ray, CT, MRI), bone biopsy, and genetic testing to identify GNAS gene mutations.
What is the cost of the GNAS gene test at DNA Labs India?
The test costs INR 20,000, including sample collection, analysis, and genetic counseling.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not typically required for this genetic test.
Who should consider getting tested?
Individuals with symptoms of osseous heteroplasia or a family history of the disorder should consider testing.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the GNAS gene, confirming the diagnosis and guiding management.
Is genetic counseling included in the test?
Yes, genetic counseling is included to help interpret results and discuss implications.
How accurate is the NGS genetic test?
The test uses advanced NGS technology and is highly accurate for detecting GNAS gene mutations.
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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