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GP9 Gene Bernard Soulier syndrome type C NGS Genetic Test

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GP9 Gene Bernard Soulier syndrome type C NGS Genetic Test

Short Name: GP9 Gene BSS Type C NGS Test

Also known as: GP9 gene test, Bernard Soulier Syndrome Type C genetic test, BSS Type C NGS test

GP9 Gene Bernard Soulier syndrome type C 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. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Bernard Soulier Syndrome Type C by analyzing GP9 gene mutations using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5312
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, Next-Generation Sequencing
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick under sterile conditions.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical and family history. Genetic counseling recommended.
2
During the Test:Blood sample drawn and sent for NGS analysis in the lab.
3
After the Test:Results available in 3-4 weeks. Follow-up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose Bernard Soulier Syndrome Type C by analyzing GP9 gene mutations using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper labeling of sample
  • Use aseptic technique
  • Transport sample at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This genetic test is essential for accurate diagnosis and management of Bernard Soulier Syndrome Type C, aiding in treatment planning and genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GP9 gene. Consult a genetic counselor for detailed interpretation.
📊

No pathogenic variants detected

Normal; no evidence of Bernard Soulier Syndrome Type C genetic mutation

📊

Pathogenic variant detected

Abnormal; confirms genetic basis for Bernard Soulier Syndrome Type C

📊

Variant of uncertain significance

Requires further evaluation and genetic counseling

⚠️ When to Consult a Doctor:

If symptoms of abnormal bleeding persist, or if test results indicate pathogenic variants, consult a hematologist or geneticist for management.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a standalone diagnostic tool; clinical correlation needed

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection, or dizziness

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

TestGP9 Gene Bernard Soulier syndrome type C NGS Genetic Test
ComparisonGP9 Gene Bernard Soulier syndrome type C NGS Genetic Test

Frequently Asked Questions

What is Bernard Soulier Syndrome Type C?
It is a rare genetic bleeding disorder caused by mutations in the GP9 gene, leading to abnormal platelet function and symptoms like easy bruising and prolonged bleeding.
What causes Bernard Soulier Syndrome Type C?
It is caused by mutations in the GP9 gene, which encodes glycoprotein IX essential for platelet adhesion.
What is the GP9 gene?
The GP9 gene provides instructions for making glycoprotein IX, a protein crucial for platelet function.
How is the GP9 Gene Bernard Soulier Syndrome Type C NGS Genetic Test performed?
It uses Next-Generation Sequencing (NGS) to analyze the GP9 gene for mutations from a blood or DNA sample.
Who should get this test?
Individuals with symptoms of abnormal bleeding, easy bruising, or a family history of Bernard Soulier Syndrome.
What are the symptoms of Bernard Soulier Syndrome Type C?
Symptoms include abnormal bleeding, nosebleeds, heavy menstrual bleeding, bleeding gums, and prolonged bleeding after injury.
How is Bernard Soulier Syndrome Type C diagnosed?
Diagnosis involves clinical evaluation, family history, blood tests like CBC, and genetic testing such as this NGS test.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate the presence or absence of pathogenic variants in the GP9 gene. Genetic counseling is recommended for interpretation.
Is genetic counseling provided?
Yes, genetic counseling is included as part of the test service to help understand results and implications.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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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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