GATA2 Full Length Gene Sequencing for Chronic Neutropenia, MonoMac Syndrome, Myelodysplasia, and AML
Comprehensive Genetic Analysis for Hematological Disorders
The GATA2 Full Length Gene Sequencing test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with serious blood disorders and immune system abnormalities. This comprehensive genetic analysis examines the complete GATA2 gene sequence to detect variations that may contribute to the development of Chronic Neutropenia, MonoMac Syndrome, Myelodysplasia, and Acute Myeloid Leukemia (AML).
What Does the GATA2 Gene Sequencing Test Measure?
This advanced genetic test specifically targets the GATA2 gene, which plays a crucial role in hematopoiesis and immune system function. The test utilizes Sanger Sequencing methodology to analyze:
- Complete coding regions of the GATA2 gene
- Exon-intron boundaries
- Regulatory regions affecting gene expression
- Known mutation hotspots associated with hematological disorders
The GATA2 gene encodes a transcription factor essential for the development and function of hematopoietic stem cells, myeloid cells, and lymphoid cells. Mutations in this gene can disrupt normal blood cell production and immune system regulation, leading to various clinical manifestations.
Who Should Consider GATA2 Gene Sequencing?
Clinical Indications and Symptoms
This genetic test is particularly important for individuals presenting with:
- Persistent Neutropenia: Unexplained low neutrophil counts lasting more than three months
- Recurrent Infections: Frequent bacterial, viral, or fungal infections suggesting immune deficiency
- Myelodysplastic Syndrome Features: Abnormal blood cell morphology and cytopenias
- Family History: Relatives with hematological malignancies or immune disorders
- MonoMac Syndrome Symptoms: Monocytopenia, mycobacterial infections, and other immune abnormalities
- Early-onset Hematological Malignancies: AML diagnosis in younger patients
Benefits of GATA2 Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing GATA2 Full Length Gene Sequencing offers multiple clinical benefits:
- Accurate Diagnosis: Provides definitive genetic confirmation of GATA2-related disorders
- Early Intervention: Enables proactive management before disease progression
- Family Screening: Identifies at-risk family members for preventive monitoring
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic profile
- Prognostic Information: Helps predict disease course and potential complications
- Transplant Planning: Assists in hematopoietic stem cell transplantation decisions
Understanding Your Test Results
Interpretation and Clinical Implications
Your GATA2 gene sequencing results will fall into one of several categories:
- Pathogenic Mutation Detected: Confirms genetic basis for clinical symptoms and guides specific management strategies
- Likely Pathogenic Variant: Strongly suggests disease association, requiring clinical correlation
- Variant of Uncertain Significance: Unknown clinical impact, may require additional family studies
- Benign/Likely Benign Variant: Not associated with disease, provides reassurance
- No Mutation Detected: Reduces likelihood of GATA2-related disorder but doesn’t exclude other genetic causes
All results should be interpreted in consultation with a qualified genetic counselor or hematologist who can provide personalized guidance based on your complete clinical picture.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $600 |
| Regular Price | $800 |
Test Specifications
- Turnaround Time: 15 days
- Sample Type: Bone Marrow/Peripheral Blood
- Test Components: EDTA Vacutainer (2ml)
- Methodology: Sanger Sequencing
- Prescription Required: Yes (except for surgery, pregnancy, or travel abroad cases)
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about genetic predisposition to hematological disorders affect your quality of life. The GATA2 Full Length Gene Sequencing test provides the clarity needed for informed medical decisions and personalized care planning. Our expert genetic counselors and hematology specialists are available to discuss your results and develop appropriate management strategies.
Ready to schedule your genetic testing? Contact our dedicated patient care team at +1(267) 388-9828 to book your appointment or discuss any questions about the GATA2 gene sequencing process. Early genetic diagnosis can make a significant difference in disease management and outcomes.

