GATA1 Gene Thrombocytopenia, X-linked NGS Genetic Test
Short Name: GATA1-XL NGS Test
Also known as: GATA1-XL, X-linked thrombocytopenia
GATA1 Gene Thrombocytopenia, X-linked 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
To diagnose GATA1 Gene Thrombocytopenia, X-linked through genetic analysis, enabling early intervention and management of symptoms.
- Test Code
- 2697
- 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 the patient and a genetic counseling session to draw a pedigree chart of affected family members.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture or use of FTA card for one drop of blood.
Report Delivery
Sample sent to laboratory for NGS analysis; results available in 3-4 weeks.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose GATA1 Gene Thrombocytopenia, X-linked through genetic analysis, enabling early intervention and management of symptoms.
How to Prepare
- Provide clinical history
- Attend genetic counseling session
- Ensure sample is properly labeled and stored
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for GATA1 mutations can provide clarity for families with a history of bleeding disorders and guide appropriate management strategies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or contaminated samples
- Improperly labeled samples
Understanding Your Results
Positive for mutation
Confirms diagnosis of GATA1-XL; genetic counseling recommended.
Negative for mutation
No mutation detected; clinical correlation advised if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed.
If symptoms such as easy bruising, nosebleeds, or low platelet count persist, or if there is a family history of bleeding disorders.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results may take several weeks
Risks & Considerations
- ●Minor bruising at blood draw site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Hemolyzed blood samples
- ●Contaminated DNA
- ●Improper sample storage
Frequently Asked Questions
What is GATA1 Gene Thrombocytopenia, X-linked?
Who should get this test?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What do the results mean?
Is genetic counseling necessary?
Are there any risks associated with the test?
Can females be affected by this disorder?
How accurate is the NGS technology?
What should I do if the test is positive?
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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.
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✓ 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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