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DNA Labs India

GATA6 Gene Atrioventricular septal defect type 5 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GATA6 Gene Atrioventricular septal defect type 5 NGS Genetic Test

Short Name: GATA6 AVSD Type 5 NGS Test

Also known as: GATA6 AVSD Type 5, Atrioventricular Septal Defect Type 5 Genetic Test

GATA6 Gene Atrioventricular septal defect type 5 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 TestAll 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

The purpose of this test is to identify pathogenic mutations in the GATA6 gene that cause Atrioventricular Septal Defect Type 5, aiding in diagnosis, management, and genetic counseling for affected individuals and families.

Test Code
5186
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 a detailed clinical history of the patient, including symptoms and family history. A genetic counseling session is recommended to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture or using an FTA card for one drop of blood.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis. Results are available online after 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection is a standard procedure with minimal discomfort.
3
After the Test:Monitor for any post-collection symptoms like bruising. Await results and follow up with a healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the GATA6 gene that cause Atrioventricular Septal Defect Type 5, aiding in diagnosis, management, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper blood collection technique to avoid hemolysis.
  • Use FTA card if specified for minimal blood volume.
  • Label samples correctly with patient details.

Doctor's Notes

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

"Early genetic testing for GATA6 mutations can guide management of AVSD type 5 and inform family planning for congenital heart defects."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Room Temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Incorrect labeling or missing patient information
  • Sample contamination

Understanding Your Results

Results indicate whether pathogenic mutations in the GATA6 gene are detected. A positive result confirms a genetic basis for AVSD type 5, while a negative result may require further testing or clinical evaluation.
📊

Positive for GATA6 mutation

Confirms diagnosis of AVSD type 5 due to genetic mutation. Genetic counseling and cardiac management recommended.

📊

Negative for GATA6 mutation

No pathogenic variant detected in GATA6 gene. Consider other genetic or non-genetic causes of symptoms.

📊

Variant of uncertain significance

Further testing or family studies may be needed to determine clinical significance.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as rapid breathing, difficulty feeding, or cyanosis appear, or for genetic counseling if there is a family history of congenital heart defects.

Limitations

  • ⚠This test only detects mutations in the GATA6 gene and may not identify other genetic causes of AVSD.
  • ⚠Results require interpretation by a qualified geneticist or cardiologist.
  • ⚠False negatives or positives are possible, though rare with NGS technology.

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Frequently Asked Questions

What is the GATA6 Gene AVSD Type 5 NGS Genetic Test?
This test uses next-generation sequencing to analyze the GATA6 gene for mutations that cause Atrioventricular Septal Defect Type 5, a congenital heart defect.
Why is this test recommended?
It is recommended for individuals with symptoms of AVSD type 5, family history of congenital heart defects, or prenatal abnormalities to identify genetic causes.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a mutation in the GATA6 gene, confirming a genetic basis for AVSD type 5. Genetic counseling is advised.
What if the result is negative?
A negative result means no pathogenic mutation was found in GATA6. Further testing may be needed if symptoms persist.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What is the cost of the test?
The test costs INR 20,000, with a special discounted price available.
Who should undergo this test?
Individuals with clinical symptoms of AVSD type 5, family history of the condition, or those undergoing genetic counseling.
Are there any risks associated with the test?
Risks are minimal and include minor bruising from blood draw. Emotional impact of results should be considered.
How can I book the test?
You can book the test online through DNA Labs India's website or by contacting their customer service.
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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