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GATA6 Gene Tetralogy of Fallot NGS Genetic Test

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GATA6 Gene Tetralogy of Fallot NGS Genetic Test

Short Name: GATA6 TOF NGS Test

Also known as: GATA6 mutation test, Tetralogy of Fallot genetic test, TOF NGS test

GATA6 Gene Tetralogy of Fallot 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.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the GATA6 gene that cause Tetralogy of Fallot, enabling early diagnosis, informed treatment decisions, and genetic counseling for affected families.

Test Code
5293
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with GATA6 gene mutations.

Step 2

Laboratory Analysis

Standard blood draw or sample collection using FTA card for DNA extraction.

Step 3

Report Delivery

Sample is processed for NGS analysis; results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to assess family risk.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Wait for 3-4 weeks for results; discuss findings with a geneticist or cardiologist.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the GATA6 gene that cause Tetralogy of Fallot, enabling early diagnosis, informed treatment decisions, and genetic counseling for affected families.

How to Prepare

  • Use sterile equipment for blood collection
  • Ensure proper labeling of samples
  • Store samples as per laboratory guidelines

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for GATA6 mutations can aid in timely diagnosis and management of Tetralogy of Fallot, improving patient outcomes through personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GATA6 gene. Positive results suggest a genetic cause for Tetralogy of Fallot, while negative results do not rule out other genetic or environmental factors.
Pathogenic variant detected: Confirms genetic etiology, recommend genetic counseling and family screening.
Variant of uncertain significance: Requires further evaluation and clinical correlation.
No pathogenic variant detected: Consider other genetic tests or environmental factors.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of Tetralogy of Fallot persist, for genetic counseling after a positive result, or for family planning advice.

Limitations

  • May not detect all types of mutations, such as large deletions or duplications
  • Results require clinical correlation and genetic counseling

Risks & Considerations

  • Minor bruising or discomfort at the blood draw site
  • Rare risk of infection

Interfering Factors

  • Sample quality or contamination
  • Technical errors in sequencing

Frequently Asked Questions

What is the GATA6 Gene Tetralogy of Fallot NGS Genetic Test?
It is a genetic test that uses NGS technology to identify mutations in the GATA6 gene associated with Tetralogy of Fallot, a congenital heart defect.
Why is this test important?
It helps in early diagnosis, genetic counseling, and personalized treatment for individuals with Tetralogy of Fallot or a family history of the condition.
How is the test performed?
The test involves sequencing the GATA6 gene from a blood or DNA sample using Next-Generation Sequencing (NGS) technology.
What sample is required for the test?
Blood, 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 is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Is home collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
What are the symptoms of Tetralogy of Fallot?
Symptoms include cyanosis, shortness of breath, rapid breathing, fainting spells, and poor weight gain.
How is Tetralogy of Fallot diagnosed?
Diagnosis is based on physical examination, medical history, and tests like echocardiogram, chest X-ray, ECG, and cardiac MRI.
What does a positive result mean?
A positive result indicates a pathogenic variant in the GATA6 gene, confirming a genetic cause for Tetralogy of Fallot and guiding further management.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal testing if there is a family history or suspicion of Tetralogy of Fallot, but genetic counseling is recommended.
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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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.

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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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