GATA2 Full-Length Gene Sequencing (Chronic Neutropenia, MonoMac Syndrome, Mylodysplasia, AML) Test
Short Name: GATA2 Gene Sequencing
Also known as: GATA2 Full Gene Sequencing, GATA2 Mutation Analysis, GATA2 Gene Test
GATA2 Full-Length Gene Sequencing (Chronic Neutropenia, MonoMac Syndrome, Mylodysplasia, AML) Test test available at DNA Labs India for ₹24,000. Uses Sanger Sequencing on Bone Marrow / Peripheral Blood samples. Results in 15 days. 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 GATA2 Full-Length Gene Sequencing is to identify mutations in the GATA2 gene that cause inherited bone marrow failure syndromes and predispose to hematological malignancies. This test aids in confirming a clinical diagnosis, determining prognosis, and enabling genetic counseling for at-risk family members.
- Test Code
- 6102
- CPT Code
- 81479
- ICD Code
- D72.819
- Price
- ₹24,000
- Sample Type
- Bone Marrow / Peripheral Blood
- Result Time
- 15 days
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
No special preparation required. A doctor's prescription is recommended.
Method: Venipuncture / Bone Marrow Aspirate
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For bone marrow, a specialist performs the procedure.
Report Delivery
No specific aftercare needed. Resume normal activities.
Timeline: 15 days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of GATA2 Full-Length Gene Sequencing is to identify mutations in the GATA2 gene that cause inherited bone marrow failure syndromes and predispose to hematological malignancies. This test aids in confirming a clinical diagnosis, determining prognosis, and enabling genetic counseling for at-risk family members.
How to Prepare
- Use EDTA vacutainer for blood sample.
- Transport at cool pack (2-8°C) if delay expected.
- Bone marrow sample should be collected by an oncologist/hematologist.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"GATA2 mutations are critical in inherited bone marrow failure syndromes. Early genetic diagnosis enables targeted surveillance and timely intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted sample
- Hemolyzed sample
- Incorrect container
- Sample not labeled properly
Understanding Your Results
Pathogenic variant detected
Confirms GATA2 deficiency syndrome. Genetic counseling and family screening recommended.
Variant of uncertain significance (VUS)
Further testing of family members may help classify the variant.
No pathogenic variant detected
GATA2-related disorder is less likely; consider other genetic causes.
Consult a hematologist or geneticist if you have persistent neutropenia, recurrent infections, or a family history of blood disorders.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Not a substitute for bone marrow examination or cytogenetic analysis.
Risks & Considerations
- ●Minimal risk of bleeding or infection at blood draw site
- ●Bone marrow biopsy carries rare risks of bleeding, infection, or pain
Interfering Factors
- ●Clotted or hemolyzed blood sample
- ●Insufficient DNA quantity
- ●Recent bone marrow transplant (may reflect donor DNA)
Compare With Similar Tests
| Test | GATA2 Full-Length Gene Sequencing (Chronic Neutropenia, MonoMac Syndrome, Mylodysplasia, AML) | CBC with Peripheral Smear | Bone Marrow Biopsy | Flow Cytometry |
|---|---|---|---|---|
| Comparison | GATA2 Full-Length Gene Sequencing (Chronic Neutropenia, MonoMac Syndrome, Mylodysplasia, AML) | CBC provides blood cell counts but cannot identify genetic cause. GATA2 sequencing offers definitive molecular diagnosis. | Bone marrow biopsy assesses cellularity and morphology but does not detect GATA2 mutations. Sequencing complements biopsy findings. | Flow cytometry evaluates immunophenotype but not genetic mutations. GATA2 sequencing is specific for inherited predisposition. |
Frequently Asked Questions
What is GATA2 gene sequencing?
Who should get this test?
What sample is needed?
Is fasting required?
How long does it take to get results?
What is the cost of the test?
Is home sample collection available?
Can this test detect all GATA2 mutations?
What does a positive result mean?
Is genetic counseling recommended?
Can this test be done for children?
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