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GATA4 Gene Testicular anomalies with or without congenital heart disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GATA4 Gene Testicular anomalies with or without congenital heart disease NGS Genetic Test

Short Name: GATA4 Gene Test

Also known as: GATA4 Genetic Test, GATA4 Mutation Analysis, Testicular and Heart Anomaly Genetic Test

GATA4 Gene Testicular anomalies with or without congenital heart disease 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 TestMale🏠 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

To identify genetic mutations in the GATA4 gene that may cause testicular anomalies and/or congenital heart disease, facilitating early diagnosis, personalized treatment, and family risk assessment.

Test Code
5295
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

No specific preparation required. Provide detailed clinical history and family pedigree during genetic counseling.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Blood draw or saliva collection performed by a trained phlebotomist. Minimal discomfort expected.

Step 3

Report Delivery

Sample is sent to the laboratory for analysis. Results are available in 3-4 weeks via online portal, email, or WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the test implications, benefits, and limitations. Provide informed consent.
2
During the Test:Non-invasive sample collection (blood or saliva) with minimal risks. Procedure takes about 15-30 minutes.
3
After the Test:Follow-up with healthcare provider based on results. Genetic counseling may be advised for result interpretation and family planning.

About This Test

Who Should Get This Test

To identify genetic mutations in the GATA4 gene that may cause testicular anomalies and/or congenital heart disease, facilitating early diagnosis, personalized treatment, and family risk assessment.

How to Prepare

  • Avoid eating or drinking 30 minutes before saliva collection
  • For blood collection, no fasting is required
  • Ensure proper labeling of sample with patient details
  • Follow instructions provided by the collection kit

Doctor's Notes

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

"This test is crucial for early detection of genetic mutations linked to testicular and cardiac anomalies, enabling personalized management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for years if stored in a dry, cool place
Extracted DNA stable for extended periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample type or container
  • Missing patient information or consent

Understanding Your Results

Results indicate the presence or absence of mutations in the GATA4 gene. Consult a genetic counselor or healthcare provider for detailed interpretation and next steps.
Positive result: Pathogenic mutation detected, indicating increased risk for testicular anomalies and/or congenital heart disease. Further clinical evaluation recommended.
Negative result: No pathogenic variants detected, but clinical symptoms may require additional testing or monitoring.
Variant of uncertain significance (VUS): Mutation found but clinical significance unknown. Family studies or repeat testing may be advised.
⚠️ When to Consult a Doctor:

If symptoms persist or worsen, if family history suggests genetic risk, or if results are positive or uncertain, consult a cardiologist, geneticist, or urologist for comprehensive management.

Limitations

  • ⚠May not detect all mutations in the GATA4 gene
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not rule out other genetic or environmental causes
  • ⚠Variant of uncertain significance may require further testing

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, including anxiety or stress
  • ●Potential for incidental findings unrelated to the test indication

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Recent blood transfusion or bone marrow transplant
  • ●Improper sample storage

Compare With Similar Tests

TestGATA4 Gene Testicular anomalies with or without congenital heart disease NGS Genetic TestKaryotype AnalysisWhole Exome SequencingCongenital Heart Disease PanelTesticular Anomaly Genetic Panel
ComparisonGATA4 Gene Testicular anomalies with or without congenital heart disease NGS Genetic Test

Frequently Asked Questions

What is the GATA4 Gene Test?
It is an NGS genetic test that analyzes the GATA4 gene for mutations associated with testicular anomalies and congenital heart disease.
Who should consider this test?
Individuals with family history of testicular or heart anomalies, symptoms like undescended testicles or cyanosis, or unexplained fertility issues.
How is the test performed?
A blood or saliva sample is collected and analyzed using Next-Generation Sequencing to detect GATA4 gene mutations.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the GATA4 gene, increasing risk for associated conditions. Clinical evaluation is recommended.
Are there any risks to the test?
Risks are minimal, such as bruising from blood draw. Psychological impact may occur, so genetic counseling is advised.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home collection across India for this test.
What is the cost of the test?
The test costs INR 20,000, which includes analysis and report generation.
Can this test be used for prenatal diagnosis?
It is primarily for postnatal diagnosis. For prenatal testing, consult a genetic counselor for appropriate options.
What other conditions are linked to GATA4 mutations?
GATA4 mutations are associated with congenital heart defects, testicular anomalies, and sometimes other developmental disorders.
How accurate is the test?
The test uses advanced NGS technology for high accuracy, but results should be correlated with clinical findings.
What should I do after receiving results?
Consult a healthcare provider or genetic counselor for interpretation, management, and family planning guidance.
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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