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GATA4 Gene Ventricular septal defect type 1 NGS Genetic Test

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GATA4 Gene Ventricular septal defect type 1 NGS Genetic Test

Short Name: GATA4 VSD Type 1 NGS Test

Also known as: GATA4 Gene Test, VSD Type 1 Genetic Test, Congenital Heart Defect Genetic Test

GATA4 Gene Ventricular septal defect type 1 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 TestPediatric🏠 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 confirm a diagnosis of GATA4 gene-related ventricular septal defect type 1 through advanced genetic analysis, enabling personalized treatment and management strategies.

Test Code
5302
ICD Code
Q21.0
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.

Method: Venipuncture or Blood drop

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or a blood drop on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No specific preparation required, but genetic counseling is recommended to understand the test implications.
2
During the Test:A blood sample is drawn, and DNA is extracted for NGS analysis of the GATA4 gene.
3
After the Test:Results are available in 3-4 weeks. Follow-up with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To confirm a diagnosis of GATA4 gene-related ventricular septal defect type 1 through advanced genetic analysis, enabling personalized treatment and management strategies.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label the sample correctly with patient details
  • Transport the sample to the lab within the specified stability period

Doctor's Notes

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

"This genetic test is vital for early diagnosis and management of congenital heart defects, especially in families with a history of cardiac anomalies."

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 or Blood drop

Sample Stability

Room temperature24 hours
Refrigerated7 days
FrozenLong-term storage as per lab protocol
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Incorrect sample type or container
  • Missing patient information or consent

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GATA4 gene. A positive result confirms a genetic basis for VSD type 1, while a negative result suggests other etiologies may be involved.
📊

Positive for GATA4 mutation

Confirms diagnosis of GATA4 gene-related VSD type 1. Genetic counseling and cardiac evaluation recommended.

📊

Negative for GATA4 mutation

No pathogenic variant detected in the GATA4 gene. Clinical correlation and further testing may be needed.

📊

Variant of uncertain significance

A genetic variant was found, but its clinical significance is unclear. Repeat testing or family studies may be advised.

⚠️ When to Consult a Doctor:

Consult a cardiologist or geneticist immediately if symptoms of VSD are present, or if the test result is positive or uncertain, for comprehensive management and family planning.

Limitations

  • ⚠Only detects mutations in the GATA4 gene
  • ⚠May not identify all genetic causes of VSD
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further investigation

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample storage or handling
  • ●Recent blood transfusions

Compare With Similar Tests

TestGATA4 Gene Ventricular septal defect type 1 NGS Genetic TestEchocardiogramElectrocardiogram (ECG)Chest X-rayMRI Heart
ComparisonGATA4 Gene Ventricular septal defect type 1 NGS Genetic Test

Frequently Asked Questions

What is the GATA4 Gene VSD Type 1 NGS Genetic Test?
It is a next-generation sequencing test that analyzes the GATA4 gene to identify mutations causing ventricular septal defect type 1, a congenital heart defect.
Why is this test recommended?
It is recommended for infants with symptoms of VSD or a family history of congenital heart defects to confirm a genetic diagnosis and guide treatment.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to detect mutations in the GATA4 gene.
What is the cost of the test?
The test costs INR 20000.0, with free home sample collection available across India.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
A positive result confirms a GATA4 gene mutation linked to VSD type 1, while a negative result indicates no mutation was found in this gene.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising, but genetic results may have psychological implications.
Can this test be done for adults?
While primarily for pediatric cases, adults with congenital heart defects may also benefit; consult a geneticist for advice.
How accurate is the test?
NGS technology provides high accuracy for detecting mutations in the GATA4 gene, but results should be interpreted clinically.
What should I do if the test is positive?
Consult a cardiologist or geneticist for further evaluation, management options, and family counseling.
Is genetic counseling required?
Yes, a genetic counseling session is recommended before and after the test to understand implications and draw a family pedigree chart.
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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