VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Congenital Neutropenia
The VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with severe congenital neutropenia type 5. This specialized test focuses on the VPS45 gene, which plays a critical role in intracellular trafficking and neutrophil development. When mutations occur in this gene through autosomal recessive inheritance patterns, individuals may develop life-threatening neutropenia conditions requiring immediate medical intervention and specialized care.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic analysis specifically targets:
- Pathogenic variants in the VPS45 gene associated with severe congenital neutropenia type 5
- Autosomal recessive inheritance patterns affecting neutrophil production and function
- Specific mutations that disrupt intracellular protein trafficking mechanisms
- Genetic markers indicating predisposition to recurrent bacterial infections
- Variants affecting bone marrow neutrophil maturation processes
Who Should Consider VPS45 Gene Testing?
This specialized genetic test is recommended for individuals presenting with:
- Recurrent severe bacterial infections from early childhood
- Unexplained persistent fevers and inflammatory responses
- Family history of neutropenia or immune deficiency disorders
- Abnormal complete blood count results showing consistently low neutrophil levels
- Delayed wound healing and poor response to standard antibiotic treatments
- Children with failure to thrive and recurrent oral ulcers
- Individuals with consanguineous parentage and neutropenia symptoms
Clinical Benefits of Early Genetic Detection
Undergoing VPS45 gene testing provides numerous clinical advantages:
- Early intervention and targeted treatment strategies
- Informed family planning decisions and genetic counseling
- Personalized prophylactic antibiotic regimens
- Reduced risk of life-threatening infections through proactive management
- Improved quality of life through comprehensive care planning
- Accurate diagnosis eliminating unnecessary medical procedures
- Access to specialized hematology and immunology care pathways
Understanding Your Genetic Test Results
Our comprehensive genetic counseling support helps you interpret your VPS45 gene test results:
- Positive Result: Indicates presence of pathogenic VPS45 mutations requiring specialized hematology care and infection prevention strategies
- Negative Result: Suggests absence of tested VPS45 variants, though continued monitoring may be recommended based on clinical presentation
- Variant of Uncertain Significance: Requires additional family studies and ongoing research correlation
- Carrier Status: Identifies individuals who may pass mutations to offspring without showing symptoms themselves
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We provide comprehensive VPS45 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 other cities. Our state-of-the-art laboratories ensure accurate and reliable results with full genetic counseling support.
Pre-Test Preparation Requirements
Before scheduling your VPS45 gene test, we recommend:
- Comprehensive clinical history documentation of neutropenia symptoms
- Genetic counseling session to create detailed family pedigree charts
- Review of previous hematology test results and medical records
- Discussion of potential implications for family members
- Understanding of autosomal recessive inheritance patterns
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic neutropenia conditions affect your quality of life. Our specialized VPS45 gene testing provides definitive answers and clear pathways for medical management. With our discounted pricing at only $500 USD (regularly $700), comprehensive genetic testing has never been more accessible.
Call our genetic specialists today at +1(267) 388-9828 to schedule your VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive NGS Genetic DNA Test. Our team is ready to provide expert guidance, answer your questions, and help you take the next step toward understanding your genetic health.
Early detection through advanced genetic testing can significantly improve outcomes for individuals with severe congenital neutropenia. Trust our expertise in hematology genetics to provide the comprehensive care and accurate diagnostics you deserve.
