GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic Test
Also known as: Bernard-Soulier syndrome type A2, GP1BA-related bleeding disorder
GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample collection. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the GP1BA Gene Bernard Soulier Syndrome Type A2 NGS Genetic Test is to detect mutations in the GP1BA gene that cause Bernard Soulier Syndrome Type A2. This test aids in confirming diagnosis, assessing carrier status, and informing treatment decisions for patients with bleeding disorders.
- Test Code
- 5310
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample collection
- Fasting Required
- No
- Method
- NGS (Next Generation Sequencing)
Sample Collection
No specific preparation required. Inform the healthcare provider about any medications or recent transfusions.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities.
Timeline: 3 to 4 weeks from sample collection
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GP1BA Gene Bernard Soulier Syndrome Type A2 NGS Genetic Test is to detect mutations in the GP1BA gene that cause Bernard Soulier Syndrome Type A2. This test aids in confirming diagnosis, assessing carrier status, and informing treatment decisions for patients with bleeding disorders.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Bernard Soulier Syndrome is essential for precise diagnosis and tailored treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrectly labeled samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Bernard Soulier Syndrome Type A2. Genetic counseling is recommended.
Negative for pathogenic variant
No mutations detected in the GP1BA gene. Clinical correlation is advised if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor if you experience symptoms of bleeding disorders, have a family history of Bernard Soulier Syndrome, or if test results indicate a positive finding.
Limitations
- ⚠May not detect all possible mutations in the GP1BA gene
- ⚠Cannot predict disease severity or progression
- ⚠Results should be interpreted in conjunction with clinical findings
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very low risk of infection
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic Test | Platelet Function Tests | Coagulation Panel | Other Genetic Tests for Bleeding Disorders |
|---|---|---|---|---|
| Comparison | GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic Test | Assesses platelet function but may not identify genetic causes. | Evaluates clotting factors but not specific to Bernard Soulier Syndrome. | May test for different genes involved in platelet disorders. |
Frequently Asked Questions
What is Bernard Soulier Syndrome Type A2?
How is the GP1BA Gene Bernard Soulier Syndrome Type A2 NGS Genetic Test performed?
What are the symptoms of Bernard Soulier Syndrome Type A2?
Who should consider this genetic test?
What is the cost of the test?
How long does it take to get results?
Is fasting required for this test?
What sample types are accepted?
Can this test detect all mutations in the GP1BA gene?
Is genetic counseling recommended?
How accurate is the NGS Genetic Test?
What should I do if my test results are positive?
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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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