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GNAS Gene Pseudopseudohypoparathyroidism NGS Genetic Test

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GNAS Gene Pseudopseudohypoparathyroidism NGS Genetic Test

GNAS Gene Pseudopseudohypoparathyroidism 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

The purpose of the GNAS Gene Pseudopseudohypoparathyroidism NGS Genetic Test is to detect mutations in the GNAS gene for accurate diagnosis of pseudopseudohypoparathyroidism, enabling early intervention, symptom management, and genetic counseling.

Test Code
5500
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with pseudopseudohypoparathyroidism are recommended before testing.

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per lab instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection is performed by a trained phlebotomist.
3
After the Test:Results are delivered online within 3-4 weeks; follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

The purpose of the GNAS Gene Pseudopseudohypoparathyroidism NGS Genetic Test is to detect mutations in the GNAS gene for accurate diagnosis of pseudopseudohypoparathyroidism, enabling early intervention, symptom management, and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Avoid hemolysis in blood samples
  • Follow kit instructions for FTA card use

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing symptoms and improving quality of life in pseudopseudohypoparathyroidism."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 7 days at 2-8°C
Extracted DNA stable for 1 year at -20°C
Sample Rejection Criteria:
  • Clotted or hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results are interpreted based on the detection of mutations in the GNAS gene, with classifications according to clinical guidelines.
📊

No pathogenic variants

Negative for PPHP-associated mutations; clinical correlation advised.

📊

Pathogenic variant detected

Positive for PPHP; genetic counseling and management recommended.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like short stature, round face, or abnormal bone growth, or have a family history of pseudopseudohypoparathyroidism.

Limitations

  • ⚠May not detect all genetic variants, including deep intronic mutations
  • ⚠Results require clinical correlation
  • ⚠Cannot predict disease severity or progression

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Insufficient sample volume

Frequently Asked Questions

What is the GNAS Gene Pseudopseudohypoparathyroidism NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the GNAS gene to identify mutations causing pseudopseudohypoparathyroidism, a rare genetic disorder affecting calcium and phosphorus metabolism.
What are the symptoms of pseudopseudohypoparathyroidism?
Common symptoms include short stature, round face, short neck, shortening of the fourth and fifth fingers, obesity, and abnormal bone growth.
How is the test performed?
The test involves collecting a blood sample or extracted DNA, which is then analyzed using NGS technology to sequence the GNAS gene.
What is the cost of the test?
The test costs INR 20000.0, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for the test?
No, fasting is not required for this genetic test.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in many cities across India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the GNAS gene, confirming pseudopseudohypoparathyroidism. Genetic counseling is recommended.
Can the test detect all mutations?
The test uses NGS for comprehensive analysis, but it may not detect all genetic variants, such as deep intronic mutations. Clinical correlation is advised.
Is genetic counseling recommended before testing?
Yes, genetic counseling is recommended to discuss implications, draw a family pedigree, and understand test results.
What files are provided with the report?
DNA Labs India provides raw data files (FASTQ and VCF) along with the clinical test report for transparency.
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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