GP1BA Gene Bernard Soulier syndrome type A1 NGS Genetic Test
Short Name: GP1BA Gene BSS Type A1 NGS Test
Also known as: BSS Type A1, GP1BA-related bleeding disorder, Bernard-Soulier syndrome type A1
GP1BA Gene Bernard Soulier syndrome type A1 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 the GP1BA Gene Bernard Soulier Syndrome Type A1 NGS Genetic Test is to identify pathogenic mutations in the GP1BA gene, confirming a diagnosis of Bernard Soulier Syndrome Type A1. This test aids in differentiating BSS from other bleeding disorders, guiding treatment decisions, and facilitating genetic counseling for families.
- Test Code
- 5308
- 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 specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture
Laboratory Analysis
A blood sample is drawn via venipuncture or a drop of blood is collected on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GP1BA Gene Bernard Soulier Syndrome Type A1 NGS Genetic Test is to identify pathogenic mutations in the GP1BA gene, confirming a diagnosis of Bernard Soulier Syndrome Type A1. This test aids in differentiating BSS from other bleeding disorders, guiding treatment decisions, and facilitating genetic counseling for families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection tubes or FTA cards
- Label samples accurately with patient details
- Transport samples at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of Bernard Soulier Syndrome Type A1 through NGS testing is essential for personalized management, preventing bleeding complications, and guiding family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of Bernard Soulier Syndrome Type A1. Genetic counseling and management by a hematologist are recommended.
Negative for pathogenic mutation
No GP1BA mutations detected. Consider other causes of bleeding disorders and repeat testing if clinically indicated.
Variant of uncertain significance
Genetic variant found but clinical significance is unknown. Further family studies and functional assays may be needed.
Consult a hematologist or genetic specialist if you experience symptoms of bleeding disorders, have a family history of Bernard Soulier Syndrome, or receive abnormal test results for appropriate management and counseling.
Limitations
- ⚠May not detect all genetic variants or mutations
- ⚠Results require interpretation by a genetic counselor
- ⚠Does not replace clinical evaluation for bleeding disorders
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential psychological impact of genetic diagnosis
- ●Risk of uncertain results requiring further testing
Interfering Factors
- ●Poor sample quality
- ●Contamination during sample collection
- ●Recent blood transfusions may affect DNA analysis
Frequently Asked Questions
What is Bernard Soulier Syndrome Type A1?
What are the symptoms of BSS Type A1?
How is BSS Type A1 diagnosed?
What is the NGS Genetic Test for GP1BA gene?
Is the test invasive?
What is the cost of the GP1BA Gene NGS Genetic Test in India?
How long does it take to get the results?
Is home sample collection available?
What should I do before the test?
Can this test detect all mutations in the GP1BA gene?
Is the test covered by insurance?
What if the test results are abnormal?
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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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