GP1BB Gene Bernard Soulier syndrome type B NGS Genetic Test
Short Name: GP1BB BSSB NGS Test
Also known as: Bernard-Soulier syndrome type B, BSSB, GP1BB gene test
GP1BB Gene Bernard Soulier syndrome type B 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 confirm a suspected diagnosis of Bernard-Soulier syndrome type B, identify carriers of GP1BB gene mutations in families with a history of the disorder, and guide genetic counseling and management strategies.
- Test Code
- 5309
- 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
Standard blood draw procedure using venipuncture; alternatively, a drop of blood on an FTA card can be used.
Report Delivery
Sample is processed and sent for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To confirm a suspected diagnosis of Bernard-Soulier syndrome type B, identify carriers of GP1BB gene mutations in families with a history of the disorder, and guide genetic counseling and management strategies.
How to Prepare
- Provide detailed clinical history
- Attend genetic counseling session
- Ensure sample is collected in appropriate container
- Label sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Bernard-Soulier syndrome is essential for accurate diagnosis, especially in families with a history of bleeding disorders. It helps in guiding management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing information
Understanding Your Results
Negative
No pathogenic variants detected in GP1BB gene. Does not rule out other genetic causes.
Positive
Pathogenic variant(s) identified, confirming diagnosis of Bernard-Soulier syndrome type B or carrier status.
Variant of Uncertain Significance (VUS)
Genetic variant detected but clinical significance is unknown; further testing and counseling recommended.
If you experience symptoms such as easy bruising, frequent nosebleeds, heavy menstrual bleeding, or prolonged bleeding after injury/surgery, or if you have a family history of bleeding disorders.
Limitations
- ⚠Test may not detect all genetic variants or mutations in other genes associated with bleeding disorders
- ⚠Results require clinical correlation and genetic counseling
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection or excessive bleeding
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Recent blood transfusions may affect results
Frequently Asked Questions
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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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