GATA1 Gene Thrombocytopenia with beta thalassemia X-linked NGS Genetic Test
Short Name: GATA1 TBT NGS Genetic Test
Also known as: Thrombocytopenia with beta thalassemia, GATA1-related disorder, X-linked thrombocytopenia with thalassemia
GATA1 Gene Thrombocytopenia with beta thalassemia X-linked 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.
🩺 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 detect mutations in the GATA1 gene to confirm the diagnosis of Thrombocytopenia with beta thalassemia (TBT), enabling early intervention, symptom management, and genetic counseling for affected individuals and their families.
- Test Code
- 2699
- 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)
Sample Collection
No special preparation is required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or finger prick
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using sterile techniques. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Store samples as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the GATA1 gene to confirm the diagnosis of Thrombocytopenia with beta thalassemia (TBT), enabling early intervention, symptom management, and genetic counseling for affected individuals and their families.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples accurately with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of GATA1-related disorders, especially in families with a history of blood disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive for GATA1 mutation
Confirms diagnosis of Thrombocytopenia with beta thalassemia. Genetic counseling and management recommended.
Negative for GATA1 mutation
No pathogenic variants detected. Consider other diagnoses or repeat testing if symptoms persist.
Variant of uncertain significance
Further evaluation and family studies may be needed for clinical correlation.
Consult a hematologist or geneticist if you experience symptoms like unexplained bleeding, chronic anemia, or have a family history of blood disorders. Early consultation aids in timely diagnosis and management.
Limitations
- ⚠May not detect all possible mutations in the GATA1 gene
- ⚠Requires genetic counseling for proper interpretation
- ⚠Results should be correlated with clinical findings and family history
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain or bruising
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Sample contamination during collection or transport
- ●Improper storage of blood or DNA samples
- ●Recent blood transfusions may affect DNA analysis
Compare With Similar Tests
| Test | GATA1 Gene Thrombocytopenia with beta thalassemia X-linked NGS Genetic Test | Beta Thalassemia Mutation Analysis | Complete Blood Count (CBC) | Hemoglobin Electrophoresis |
|---|---|---|---|---|
| Comparison | GATA1 Gene Thrombocytopenia with beta thalassemia X-linked NGS Genetic Test | Focuses on HBB gene mutations; GATA1 test specifically targets TBT. | Screening test for blood cell counts; GATA1 test provides genetic confirmation. | Detects hemoglobin variants; GATA1 test identifies underlying genetic cause. |
Frequently Asked Questions
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