GATA4 Gene Atrioventricular septal defect type 4 NGS Genetic Test
Short Name: GATA4 AVSD Type 4 NGS Test
Also known as: GATA4 Gene Test for AVSD, Atrioventricular Septal Defect Genetic Test, AVSD Type 4 NGS Test
GATA4 Gene Atrioventricular septal defect type 4 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 from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
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 GATA4 gene that cause atrioventricular septal defect type 4, enabling accurate diagnosis, genetic risk evaluation, and informed clinical management for patients and families.
- Test Code
- 5187
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before sample collection.
Method: Venipuncture for blood, or saliva collection
Laboratory Analysis
Sample collection involves a simple blood draw via venipuncture or saliva collection, performed by a trained phlebotomist at home or a clinic.
Report Delivery
The sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis. Results are delivered within 3 to 4 weeks.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the GATA4 gene that cause atrioventricular septal defect type 4, enabling accurate diagnosis, genetic risk evaluation, and informed clinical management for patients and families.
How to Prepare
- Ensure proper patient identification and sample labeling
- Avoid contamination during collection
- Use sterile equipment for blood draw
- Follow instructions for saliva collection if applicable
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of AVSD, especially in families with a history of congenital heart defects. Genetic counseling is recommended to interpret results and guide family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled samples
- Contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms genetic cause of AVSD; genetic counseling and family screening recommended
Negative for pathogenic variants
No mutations detected in GATA4 gene; other genetic or environmental factors may be involved
Variant of uncertain significance (VUS)
Further testing and clinical correlation needed; genetic counseling advised
Consult a doctor if symptoms of AVSD are present, such as difficulty breathing or poor growth in infants, or if there is a family history of congenital heart defects. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all genetic variants or non-coding mutations
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results may have variants of uncertain significance (VUS)
- ⚠Does not replace clinical evaluation or imaging tests
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection at the site
- ●Psychological impact of genetic results; counseling provided
Interfering Factors
- ●Poor sample quality or contamination
- ●Hemolyzed blood samples
- ●Insufficient DNA quantity
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | GATA4 Gene Atrioventricular septal defect type 4 NGS Genetic Test | GATA4 Gene Sequencing Test | Congenital Heart Disease Genetic Panel | AVSD Comprehensive Genetic Test |
|---|---|---|---|---|
| Comparison | GATA4 Gene Atrioventricular septal defect type 4 NGS Genetic Test |
Frequently Asked Questions
What is the GATA4 Gene AVSD Type 4 NGS Genetic Test?
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Is genetic counseling included with the test?
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₹20,000Reference 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.
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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