GFI1 Gene Neutropenia, severe congenital type 2, autosomal dominant NGS Genetic Test
Short Name: GFI1 Gene Neutropenia NGS Test
Also known as: GFI1-related severe congenital neutropenia, Autosomal dominant severe congenital neutropenia type 2, GFI1 SCN2
GFI1 Gene Neutropenia, severe congenital type 2, autosomal dominant 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the GFI1 Gene Neutropenia NGS Genetic Test is to diagnose severe congenital neutropenia type 2 caused by mutations in the GFI1 gene. It confirms the genetic etiology, guides treatment decisions, facilitates genetic counseling for affected families, and helps in assessing the risk of inheritance.
- Test Code
- 5070
- 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)
Sample Collection
No specific preparation required. Ensure clinical history and pedigree chart are available for genetic counseling.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture by a trained phlebotomist. For FTA card, one drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample at ambient room temperature and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GFI1 Gene Neutropenia NGS Genetic Test is to diagnose severe congenital neutropenia type 2 caused by mutations in the GFI1 gene. It confirms the genetic etiology, guides treatment decisions, facilitates genetic counseling for affected families, and helps in assessing the risk of inheritance.
How to Prepare
- Use sterile EDTA tube for blood collection
- Label sample with patient details
- Avoid hemolysis by gentle mixing
- For FTA card, follow manufacturer instructions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is essential for diagnosing hereditary neutropenia caused by GFI1 mutations, enabling targeted management and genetic counseling to reduce infection risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect sample type or container
- Missing patient identification
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of GFI1-related severe congenital neutropenia. Genetic counseling and targeted treatment recommended.
Negative for pathogenic variant
No mutations detected in the GFI1 gene. Consider other genetic or non-genetic causes of neutropenia.
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance unknown. Further family studies and clinical correlation advised.
Consult a doctor if you experience recurrent infections, unexplained fever, or have a family history of neutropenia. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical presentation
- ⚠Does not rule out other causes of neutropenia
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection at the puncture site
- ●Psychological impact of genetic results, addressed through counseling
Interfering Factors
- ●Sample contamination during collection or transport
- ●Improper storage of blood sample
- ●Use of anticoagulants other than EDTA
- ●Hemolyzed or lipemic samples
Compare With Similar Tests
| Test | GFI1 Gene Neutropenia, severe congenital type 2, autosomal dominant NGS Genetic Test | ELANE Gene Neutropenia Test | HAX1 Gene Neutropenia Test | G6PC3 Gene Neutropenia Test | Comprehensive Neutropenia Panel |
|---|---|---|---|---|---|
| Comparison | GFI1 Gene Neutropenia, severe congenital type 2, autosomal dominant NGS Genetic Test |
Frequently Asked Questions
What is GFI1 Gene Neutropenia?
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