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GNAS Gene Pseudohypoparathyroidism type 1C NGS Genetic Test

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GNAS Gene Pseudohypoparathyroidism type 1C NGS Genetic Test

Short Name: GNAS Gene PHP1C NGS Test

Also known as: PHP1C, Pseudohypoparathyroidism type IC, GNAS-related disorder

GNAS Gene Pseudohypoparathyroidism type 1C 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the GNAS gene associated with Pseudohypoparathyroidism type 1C, aiding in diagnosis, treatment planning, and genetic counseling.

Test Code
5502
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

No specific preparation required. Provide clinical history and undergo genetic counseling as recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or a drop of blood is collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test purpose and provide informed consent. Genetic counseling is recommended prior to testing.
2
During the Test:Sample collection takes a few minutes. The test is non-invasive with minimal discomfort.
3
After the Test:Results are available in 3-4 weeks. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the GNAS gene associated with Pseudohypoparathyroidism type 1C, aiding in diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Use sterile collection equipment
  • Follow standard phlebotomy procedures

Doctor's Notes

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

"Early genetic testing for GNAS mutations in Pseudohypoparathyroidism type 1C is essential for accurate diagnosis, treatment planning, and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood in EDTA tube: stable for 7 days at room temperature
FTA card: stable for years if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated samples
  • Improper labeling or documentation

Understanding Your Results

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

No pathogenic variant detected

Normal result; no GNAS mutation associated with PHP1C identified. Clinical correlation recommended.

📊

Pathogenic variant detected

Abnormal result; confirms diagnosis of Pseudohypoparathyroidism type 1C. Genetic counseling and management advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of hypocalcemia, have a family history of PHP1C, or receive an abnormal test result for further evaluation and management.

Limitations

  • ⚠May not detect all possible genetic variants in the GNAS gene
  • ⚠Results require interpretation by a qualified geneticist
  • ⚠Does not assess for other causes of similar symptoms

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA quality
  • ●Recent blood transfusions may affect results

Compare With Similar Tests

TestGNAS Gene Pseudohypoparathyroidism type 1C NGS Genetic TestCalcium Blood TestParathyroid Hormone Test
ComparisonGNAS Gene Pseudohypoparathyroidism type 1C NGS Genetic Test

Frequently Asked Questions

What is Pseudohypoparathyroidism type 1C?
It is a rare genetic disorder caused by mutations in the GNAS gene, leading to resistance to parathyroid hormone and issues with calcium and phosphorus metabolism.
How is the GNAS Gene Pseudohypoparathyroidism type 1C NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the GNAS gene from a blood or DNA sample, identifying specific mutations.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000, which includes analysis and genetic counseling.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of Pseudohypoparathyroidism type 1C?
Symptoms include low blood calcium, bone abnormalities, kidney problems, short stature, obesity, and learning disabilities.
Who should consider this genetic test?
Individuals with symptoms of PHP1C, a family history of the disorder, or those recommended by a healthcare provider.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the GNAS gene, confirming diagnosis of PHP1C, and requires medical management.
Is genetic counseling provided?
Yes, DNA Labs India includes a genetic counseling session as part of the test package.
Can the test be done on children?
Yes, the test is suitable for all ages, including children, with appropriate consent and guidance.
What should I do before getting tested?
Provide clinical history, undergo genetic counseling, and ensure you understand the test implications.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as slight pain or bruising. Psychological support is available for result interpretation.
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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