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GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic Test

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GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic Test

Short Name: GNAS Gene PHP1A NGS Test

GNAS Gene Pseudohypoparathyroidism type 1A 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 GNAS gene associated with pseudohypoparathyroidism type 1A for accurate diagnosis, management, and genetic counseling.

Test Code
5501
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 clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Step 2

Laboratory Analysis

Sample collection via blood draw or FTA card under standard procedures.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis; results are reviewed by geneticists.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and family history.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation, consultation with genetic counselor, and discussion of next steps.

About This Test

Who Should Get This Test

To identify mutations in the GNAS gene associated with pseudohypoparathyroidism type 1A for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Bring identification and prescription
  • Inform about any medications or health conditions
  • Follow any specific instructions from the genetic counselor

Doctor's Notes

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

"Consult with a genetic counselor for personalized advice on test implications and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of mutations in the GNAS gene, which can confirm or rule out pseudohypoparathyroidism type 1A.
Positive result: Pathogenic mutation detected, indicating pseudohypoparathyroidism type 1A
Negative result: No pathogenic variants detected, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

If symptoms persist, if genetic counseling is needed, or for family planning after receiving test results.

Frequently Asked Questions

What is the GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the GNAS gene associated with pseudohypoparathyroidism type 1A, a disorder affecting calcium and phosphate regulation.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
How is the test performed?
The test involves analyzing a blood or DNA sample using NGS technology to identify mutations in the GNAS gene.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
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, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What are the symptoms of pseudohypoparathyroidism type 1A?
Symptoms include short stature, bone abnormalities, hypothyroidism, delayed puberty, obesity, developmental delays, and cognitive impairment.
How accurate is the test?
NGS Genetic Testing is highly accurate for detecting mutations in the GNAS gene, but results should be interpreted by a genetic counselor.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the GNAS gene, confirming pseudohypoparathyroidism type 1A, which may require management by an endocrinologist.
Can the test be done for children?
Yes, the test can be performed on individuals of all ages, including children, with appropriate consent and genetic counseling.
Is genetic counseling provided?
Yes, DNA Labs India recommends genetic counseling before and after testing to understand the implications and next steps.
How to book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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✓ 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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