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GFI1B Gene Bleeding disorder, platelet-type 17 NGS Genetic Test

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GFI1B Gene Bleeding disorder, platelet-type 17 NGS Genetic Test

Short Name: GFI1B Platelet-Type 17 Test

Also known as: Platelet-Type 17 Genetic Test, GFI1B Mutation Analysis, Bleeding Disorder Genetic Test

GFI1B Gene Bleeding disorder, platelet-type 17 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.

NGS Genetic TestAll Ages🏠 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 identify mutations in the GFI1B gene that cause Platelet-Type 17 Bleeding Disorder, aiding in diagnosis, management, and genetic counseling.

Test Code
2659
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)
Step 1

Sample Collection

Genetic counseling session recommended. Provide clinical history and family pedigree for accurate assessment.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture under sterile conditions by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Avoid strenuous activity for a few hours.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment to determine test necessity and interpret results.
2
During the Test:Blood sample collection, DNA extraction, and NGS analysis performed in a certified laboratory.
3
After the Test:Report generation, genetic counseling for result interpretation, and guidance on next steps.

About This Test

Who Should Get This Test

To identify mutations in the GFI1B gene that cause Platelet-Type 17 Bleeding Disorder, aiding in diagnosis, management, and genetic counseling.

How to Prepare

  • Bring valid ID and prescription
  • Inform about any medications or recent transfusions
  • Follow fasting instructions if applicable
  • Ensure proper labeling of samples

Doctor's Notes

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

"Genetic testing for GFI1B mutations is crucial for diagnosing Platelet-Type 17 Bleeding Disorder and guiding personalized treatment plans."

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
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable for up to 7 days if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the GFI1B gene associated with Platelet-Type 17 Bleeding Disorder.
📊

Positive for pathogenic mutation

Confirms diagnosis of Platelet-Type 17 Bleeding Disorder. Genetic counseling and specialist consultation recommended.

📊

Negative for mutation

No mutation detected in the GFI1B gene. Clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance

Further testing, family studies, or clinical evaluation may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a hematologist or geneticist if you experience symptoms of bleeding disorders, have a family history, or receive a positive test result.

Limitations

  • ⚠Detects only mutations in the GFI1B gene
  • ⚠May not identify all genetic variants or epigenetic factors
  • ⚠Requires clinical correlation for diagnosis

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Contaminated DNA sample
  • ●Recent blood transfusion
  • ●Improper sample storage

Compare With Similar Tests

TestGFI1B Gene Bleeding disorder, platelet-type 17 NGS Genetic TestVWF Gene TestF8 Gene TestF9 Gene TestPlatelet Function Test
ComparisonGFI1B Gene Bleeding disorder, platelet-type 17 NGS Genetic Test

Frequently Asked Questions

What is GFI1B Gene Bleeding Disorder?
It is a rare genetic condition caused by mutations in the GFI1B gene, leading to impaired platelet function and excessive bleeding.
What are the symptoms of Platelet-Type 17?
Symptoms include excessive bleeding after injury, frequent nosebleeds, easy bruising, heavy menstrual bleeding, and bleeding gums.
How is the GFI1B genetic test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample for mutations in the GFI1B gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms a mutation in the GFI1B gene, indicating Platelet-Type 17 Bleeding Disorder. Genetic counseling is recommended.
Can this test be done for children?
Yes, the test can be performed on individuals of all ages, but genetic counseling is advised for minors.
Is genetic counseling required before the test?
Genetic counseling is recommended to understand the test implications, interpret results, and discuss family history.
What are the risks of the test?
Risks are minimal, including minor bruising at the blood draw site and rare infection risk. Emotional impact of results should be considered.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations in the GFI1B gene, but accuracy depends on sample quality and laboratory standards.
What should I do if I have a family history of bleeding disorders?
Consider genetic testing and consult a hematologist or geneticist for evaluation and counseling.
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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