GFI1 Gene Neutropenia Severe Congenital Type 2 Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Congenital Neutropenia
The GFI1 Gene Neutropenia Severe Congenital Type 2 Autosomal Dominant NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the GFI1 gene, which plays a critical role in neutrophil development and immune system function. This specialized test utilizes advanced Next-Generation Sequencing (NGS) technology to provide comprehensive genetic analysis for individuals suspected of having severe congenital neutropenia type 2, an autosomal dominant condition characterized by bone marrow failure and compromised immune response.
What This Test Measures and Detects
Our advanced NGS-based genetic test specifically targets the GFI1 (Growth Factor Independent 1) gene located on chromosome 1p22. The test detects:
- Pathogenic variants and mutations in the GFI1 gene coding regions
- Autosomal dominant inheritance patterns characteristic of severe congenital neutropenia type 2
- Specific genetic alterations affecting neutrophil differentiation and maturation
- Mutations that disrupt normal hematopoiesis and immune cell development
- Genetic markers associated with bone marrow failure syndromes
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Recurrent severe bacterial infections from early childhood
- Persistent neutropenia with absolute neutrophil counts below 500/μL
- Family history of severe congenital neutropenia or bone marrow disorders
- Unexplained fever episodes and frequent hospitalizations for infections
- Dermatological manifestations including skin abscesses and cellulitis
- Oral ulcers, gingivitis, and periodontal disease
- Developmental delays in immune system maturation
- Suspected autosomal dominant inheritance pattern of hematological disorders
Clinical Benefits of GFI1 Genetic Testing
Undergoing GFI1 gene testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out severe congenital neutropenia type 2 with high precision
- Personalized Treatment: Guides appropriate therapeutic interventions including G-CSF therapy
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Enables early intervention to prevent life-threatening infections
- Comprehensive Care: Facilitates multidisciplinary approach involving hematologists, immunologists, and genetic specialists
- Risk Assessment: Identifies at-risk family members for preventive monitoring
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your GFI1 gene test results:
- Positive Result: Indicates presence of pathogenic GFI1 mutation confirming severe congenital neutropenia type 2 diagnosis
- Negative Result: Suggests absence of detectable GFI1 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and reproductive planning
All results include detailed genetic counseling to ensure complete understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | GFI1 Gene Neutropenia Severe Congenital Type 2 Autosomal Dominant NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Pre-test Requirements | Clinical History and Genetic Counseling Session |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our GFI1 Gene Neutropenia Test provides the definitive answers you need for proper diagnosis and treatment planning. With our specialized NGS technology and expert genetic counseling, you’ll receive comprehensive care from sample collection to result interpretation.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and clarity.
