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GATA5 Gene Congenital heart defects multiple types NGS Genetic Test

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GATA5 Gene Congenital heart defects multiple types NGS Genetic Test

Also known as: GATA5 gene mutation test, Congenital heart defect genetic test

GATA5 Gene Congenital heart defects multiple types 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the GATA5 gene for diagnosing congenital heart defects and guiding treatment plans.

Test Code
5245
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 session to draw a pedigree chart.

Method: Blood draw or FTA card collection

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or preparation of FTA card with one drop of blood.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and review of clinical history and family pedigree.
2
During the Test:Sample collection and processing for NGS analysis.
3
After the Test:Report generation, delivery, and follow-up consultation with a genetic specialist.

About This Test

Who Should Get This Test

To identify mutations in the GATA5 gene for diagnosing congenital heart defects and guiding treatment plans.

How to Prepare

  • Fasting is not required
  • Use sterile collection tubes
  • Ensure proper labeling of samples
  • Follow aseptic techniques

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or FTA card collection

Sample Stability

Blood samples stable for 24 hours at room temperature
FTA cards stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the GATA5 gene associated with congenital heart defects.
📊

Positive

Pathogenic mutation detected in GATA5 gene, associated with increased risk of congenital heart defects.

📊

Negative

No pathogenic variants detected, but does not exclude other genetic or environmental causes.

📊

Variant of Uncertain Significance (VUS)

Genetic variant found, but clinical significance is unknown; further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of congenital heart defects are present, such as cyanosis or poor feeding, or if there is a family history of heart defects.

Limitations

  • ⚠May not detect all genetic mutations
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Does not rule out other causes of congenital heart defects

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic test results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination of DNA sample
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is the GATA5 Gene Congenital Heart Defects NGS Genetic Test?
It is a next-generation sequencing test that analyzes the GATA5 gene for mutations linked to congenital heart defects.
Why is this test recommended?
It is recommended for individuals with symptoms or family history of congenital heart defects to identify genetic causes.
What are the symptoms of congenital heart defects?
Symptoms include rapid breathing, cyanosis (blue skin), poor feeding, tiring easily, and poor weight gain.
How is the test performed?
A blood sample or FTA card is collected and analyzed using NGS technology to detect GATA5 gene mutations.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across 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 mean?
Results indicate if pathogenic mutations in the GATA5 gene are detected, which may confirm a genetic predisposition to heart defects.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to discuss family history and implications of testing.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising; psychological impact of results should be considered.
Can this test be done during pregnancy?
It can be performed on fetal DNA if indicated, but typically postnatal testing is common; consult a genetic counselor.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting known mutations, but may not identify all genetic variants; interpretation by a specialist is essential.
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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