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GFI1 Gene Neutropenia, nonimmune chronic idiopathic, of adults NGS Genetic Test

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GFI1 Gene Neutropenia, nonimmune chronic idiopathic, of adults NGS Genetic Test

Short Name: GFI1 Gene Neutropenia NGS Test

Also known as: GFI1 mutation test, Neutropenia genetic test, GFI1 gene analysis

GFI1 Gene Neutropenia, nonimmune chronic idiopathic, of adults 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.

NGS Genetic TestAdults🏠 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 GFI1 gene for diagnosing nonimmune chronic idiopathic neutropenia in adults, aiding in clinical management and genetic counseling.

Test Code
5067
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
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members. No fasting required.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick onto FTA card or in EDTA tube.

Step 3

Report Delivery

Sample processed for DNA extraction and NGS analysis. Reports delivered in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review. No special preparation needed.
2
During the Test:Blood sample collection procedure takes about 10-15 minutes.
3
After the Test:Sample sent to lab for analysis. Monitor for any post-collection discomfort.

About This Test

Who Should Get This Test

To identify mutations in the GFI1 gene for diagnosing nonimmune chronic idiopathic neutropenia in adults, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection equipment
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Genetic testing for GFI1 gene mutations is crucial for diagnosing nonimmune chronic idiopathic neutropenia in adults, guiding personalized treatment and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood in EDTA tube
FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GFI1 gene. Positive results confirm genetic neutropenia, while negative results may require further testing.
📊

No mutation detected

GFI1 gene neutropenia unlikely; consider other causes.

📊

Pathogenic variant detected

Confirms GFI1 gene neutropenia; recommend clinical management and family screening.

⚠️ When to Consult a Doctor:

If you experience recurrent infections, abnormal CBC results, or have a family history of neutropenia, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Not a standalone diagnostic tool

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk
  • ●Minimal discomfort during blood draw

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Recent blood transfusions
  • ●Improper sample storage

Compare With Similar Tests

TestGFI1 Gene Neutropenia, nonimmune chronic idiopathic, of adults NGS Genetic Test
ComparisonGFI1 Gene Neutropenia, nonimmune chronic idiopathic, of adults NGS Genetic Test

Frequently Asked Questions

What is GFI1 gene neutropenia?
It is a rare genetic condition caused by mutations in the GFI1 gene, leading to low neutrophil counts and increased infection risk in adults.
Who should consider this genetic test?
Adults with recurrent infections, abnormal CBC results, or a family history of neutropenia should consider testing.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample for GFI1 gene mutations.
What is the cost of the test in India?
The test costs INR 20000, which includes sample collection, analysis, and reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home collection 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 do the results mean?
Results indicate if a pathogenic GFI1 mutation is present, confirming genetic neutropenia, or absent, suggesting other causes.
Is genetic counseling required?
Yes, pre-test genetic counseling is recommended to understand implications and draw a family pedigree chart.
Are there any risks associated with the test?
The test involves a standard blood draw with minimal risks like bruising or discomfort.
Can this test diagnose other types of neutropenia?
This test is specific to GFI1 gene mutations; other genetic or non-genetic causes may require different tests.
What should I do if I test positive?
Consult a healthcare provider for management, which may include monitoring, antibiotics, or other treatments.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India shares raw data, FASTQ, and VCF files along with the clinical report for transparency.
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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For Hospitals & Clinics

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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