VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Congenital Neutropenia
The VPS45 Gene Neutropenia Test represents a cutting-edge diagnostic approach for identifying severe congenital neutropenia type 5, an autosomal recessive disorder affecting the immune system. This specialized genetic examination provides critical insights into inherited immune deficiencies that can significantly impact patient health and quality of life.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based DNA analysis specifically targets the VPS45 gene, which plays a crucial role in intracellular trafficking and neutrophil development. The test identifies:
- Pathogenic mutations in the VPS45 gene associated with severe congenital neutropenia
- Autosomal recessive inheritance patterns affecting immune cell production
- Genetic variants impacting neutrophil maturation and function
- Specific nucleotide changes responsible for bone marrow abnormalities
Who Should Consider VPS45 Genetic Testing
This specialized genetic test is recommended for individuals presenting with:
- Recurrent bacterial infections from early childhood
- Unexplained fevers and inflammatory responses
- Abnormal blood counts showing persistent neutropenia
- Family history of immune system disorders
- Delayed wound healing and increased infection susceptibility
- Developmental abnormalities in bone marrow function
Significant Benefits of Early Genetic Detection
Undergoing VPS45 gene testing provides numerous advantages for patients and families:
- Early intervention strategies for infection prevention
- Personalized treatment plans based on genetic findings
- Improved understanding of disease progression and prognosis
- Informed family planning decisions through genetic counseling
- Targeted therapeutic approaches for immune system support
- Reduced healthcare costs through proactive management
Understanding Your Genetic Test Results
Our comprehensive genetic analysis provides detailed insights into your VPS45 gene status:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the VPS45 gene, confirming the diagnosis of severe congenital neutropenia type 5. This finding enables:
- Implementation of specialized medical monitoring protocols
- Development of personalized infection prevention strategies
- Coordination with immunology specialists for comprehensive care
- Genetic counseling for family members regarding inheritance risks
Negative Result Significance
A negative result suggests that no pathogenic VPS45 gene mutations were detected, though continued medical evaluation may be recommended if clinical symptoms persist. This outcome provides:
- Reassurance regarding specific genetic risks
- Direction for further diagnostic investigations if needed
- Clarification for family planning considerations
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Schedule Your Genetic Evaluation Today
Take the first step toward understanding your genetic health by scheduling your VPS45 Gene Neutropenia test. Our experienced genetic counselors and medical professionals are ready to provide comprehensive support throughout your testing journey.
Call or WhatsApp us today at +1(267) 388-9828 to book your appointment and begin your path to genetic clarity and improved health management.
Important Testing Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History Documentation and Genetic Counseling Session
- Specialty Collaboration: Dermatology, Genetics, Immunology
- Testing Methodology: Next-Generation Sequencing (NGS) Technology

