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GCM2 Gene Hypoparathyroidism, familial isolated NGS Genetic Test

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GCM2 Gene Hypoparathyroidism, familial isolated NGS Genetic Test

Short Name: GCM2 Hypoparathyroidism NGS Test

Also known as: Familial Isolated Hypoparathyroidism Genetic Test, GCM2 Mutation Analysis, Hypoparathyroidism NGS Test

GCM2 Gene Hypoparathyroidism, familial isolated 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.

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

The purpose of this test is to identify mutations in the GCM2 gene that cause familial isolated hypoparathyroidism, enabling accurate diagnosis, family screening, and informed management of the condition.

Test Code
5444
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

Patient should provide clinical history and undergo genetic counseling. No specific preparation required.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Apply pressure to the puncture site. Sample will be processed for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw pedigree chart.
2
During the Test:Sample collection and submission to laboratory.
3
After the Test:Receive report and follow-up with healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the GCM2 gene that cause familial isolated hypoparathyroidism, enabling accurate diagnosis, family screening, and informed management of the condition.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for GCM2 mutations is essential for diagnosing familial isolated hypoparathyroidism and guiding family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the GCM2 gene. Positive results confirm genetic cause for hypoparathyroidism.
Pathogenic variant detected: Confirms diagnosis of familial isolated hypoparathyroidism
No variant detected: Does not rule out other genetic causes
Variant of uncertain significance: Requires further testing and counseling
⚠️ When to Consult a Doctor:

If symptoms of hypoparathyroidism are present or if family history suggests genetic risk. After receiving test results, consult a geneticist or endocrinologist for management.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestGCM2 Gene Hypoparathyroidism, familial isolated NGS Genetic TestCalcium Level TestParathyroid Hormone TestWhole Exome Sequencing
ComparisonGCM2 Gene Hypoparathyroidism, familial isolated NGS Genetic TestMeasures blood calcium levels but does not identify genetic causeAssesses PTH levels but not specific to GCM2 mutationsBroader genetic test but more expensive and time-consuming

Frequently Asked Questions

What is the GCM2 Gene Hypoparathyroidism NGS Genetic Test?
This test uses Next Generation Sequencing to detect mutations in the GCM2 gene, which causes familial isolated hypoparathyroidism.
Who should consider getting this test?
Individuals with a family history of hypoparathyroidism or symptoms such as tingling, muscle cramps, seizures, or delayed growth.
What are the common symptoms of GCM2 gene hypoparathyroidism?
Symptoms include tingling in fingers and toes, muscle spasms, weakness, fatigue, irritability, bone pain, and seizures.
How is the test sample collected?
Sample can be collected via blood draw, extracted DNA, or one drop of blood on an FTA card.
What is the cost of the GCM2 Gene Hypoparathyroidism NGS Genetic Test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks.
What do the test results indicate?
Results show whether pathogenic mutations in the GCM2 gene are detected, confirming genetic hypoparathyroidism.
Is genetic counseling recommended before taking the test?
Yes, genetic counseling is advised to understand the implications and draw a family pedigree chart.
Can this test be used for prenatal diagnosis?
It may be used for prenatal diagnosis in families with known mutations, but consultation with a geneticist is necessary.
What are the risks associated with this test?
Risks are minimal, primarily related to blood draw, such as bruising. Psychological impact of results should be considered.
How accurate is the NGS Genetic Test for GCM2 mutations?
NGS is highly accurate for detecting mutations, but results should be interpreted in clinical context.
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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