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DNA Labs India

GATA6 Gene Pancreatic agenesis and congenital heart defects NGS Genetic Test

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GATA6 Gene Pancreatic agenesis and congenital heart defects NGS Genetic Test

Short Name: GATA6 Gene NGS Test

Also known as: GATA6 mutation test, Pancreatic agenesis genetic test, Congenital heart defect genetic test

GATA6 Gene Pancreatic agenesis and congenital heart defects 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

🩺 Medically Reviewed By

Overview

To identify mutations in the GATA6 gene that cause pancreatic agenesis and congenital heart defects, aiding in diagnosis, management, and genetic counseling.

Test Code
5280
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

Genetic counseling session recommended. Provide clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card.

Step 3

Report Delivery

Sample sent to laboratory for analysis. Report available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and laboratory analysis.
3
After the Test:Report generation and genetic counseling session.

About This Test

Who Should Get This Test

To identify mutations in the GATA6 gene that cause pancreatic agenesis and congenital heart defects, aiding in diagnosis, management, and genetic counseling.

How to Prepare

  • Fast not required
  • Bring identification and doctor's prescription
  • Inform about any medications

Doctor's Notes

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

"Genetic testing for GATA6 mutations is crucial for early diagnosis and management of pancreatic agenesis and congenital heart defects, especially in families with a history of these conditions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: 48 hours at room temperature
FTA card: Stable at room temperature for weeks
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GATA6 gene.
Positive result: Mutation detected, associated with disease risk
Negative result: No mutation detected, but clinical correlation needed
Variant of uncertain significance: Further testing may be required
⚠️ When to Consult a Doctor:

Consult a geneticist or cardiologist if symptoms are present or if family history suggests risk.

Limitations

  • May not detect all types of mutations
  • Results require interpretation by a geneticist
  • Does not rule out other genetic causes

Risks & Considerations

  • Minimal physical risk from blood draw
  • Psychological impact of results
  • Potential for uncertain findings

Interfering Factors

  • Poor sample quality
  • Contamination
  • Technical errors in sequencing

Frequently Asked Questions

What is the GATA6 Gene Pancreatic Agenesis and Congenital Heart Defects NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the GATA6 gene, which are linked to pancreatic agenesis and congenital heart defects.
Who should consider taking this test?
Individuals with symptoms of pancreatic agenesis or congenital heart defects, those with a family history of these conditions, or newborns with unexplained diabetes or heart issues.
How is the test performed?
A blood sample is collected, and DNA is extracted and analyzed using NGS technology to sequence the GATA6 gene.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show whether pathogenic mutations in the GATA6 gene are detected, which can confirm diagnosis and guide management.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand the implications and make informed decisions.
Are there any risks associated with the test?
The test involves minimal risk from blood draw, but there may be psychological impacts based on results.
Can this test diagnose other genetic conditions?
This test specifically targets GATA6 gene mutations; for other conditions, different genetic tests may be needed.
What if the test result is negative?
A negative result means no pathogenic mutations were detected, but clinical symptoms should be evaluated further.
How accurate is the GATA6 Gene Test?
The test uses NGS technology, which is highly sensitive and specific, but accuracy depends on sample quality and interpretation.
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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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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