GATA2 Gene Immunodeficiency type 21 NGS Genetic Test
Short Name: GATA2 Immunodeficiency NGS Test
Also known as: GATA2 deficiency, Immunodeficiency type 21, MonoMAC syndrome
GATA2 Gene Immunodeficiency type 21 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose GATA2 gene mutations causing Immunodeficiency Type 21, enabling early detection, genetic counseling, and tailored management to prevent complications like severe infections and malignancies.
- Test Code
- 5008
- 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
Sample Collection
Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with GATA2 gene mutations.
Method: Venipuncture or DNA Extraction
Laboratory Analysis
Standard blood draw or DNA extraction procedure performed by a trained phlebotomist.
Report Delivery
Sample is processed and analyzed using NGS technology; results are reviewed by geneticists.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose GATA2 gene mutations causing Immunodeficiency Type 21, enabling early detection, genetic counseling, and tailored management to prevent complications like severe infections and malignancies.
How to Prepare
- Use sterile equipment for blood collection
- Ensure proper labeling of samples
- Store samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for diagnosing GATA2 deficiency and guiding personalized treatment plans to manage immunodeficiency and reduce associated risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Positive
Pathogenic variant detected, confirming GATA2 deficiency. Consult genetic counselor for management.
Negative
No pathogenic variants detected. Consider other causes if symptoms persist.
Variant of Uncertain Significance (VUS)
Genetic variant found but clinical significance unknown. Repeat testing or family studies may be needed.
If you experience recurrent infections, unexplained bleeding, or have a family history of immunodeficiency, consult a healthcare provider for genetic testing evaluation.
Limitations
- ⚠May not detect all types of genetic variants
- ⚠Results require clinical correlation
- ⚠Cannot predict disease severity or onset
Risks & Considerations
- ●Minor bruising at blood draw site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
Frequently Asked Questions
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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.
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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