JAGN1 Gene Neutropenia Severe Congenital Type 6 Autosomal Recessive NGS Genetic DNA Test
Understanding JAGN1 Gene Neutropenia
Severe congenital neutropenia type 6 represents a rare genetic disorder affecting the immune system’s ability to produce sufficient neutrophils, which are essential white blood cells for fighting bacterial infections. The JAGN1 gene plays a critical role in neutrophil development and function, and mutations in this gene lead to autosomal recessive inheritance of this serious condition.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically analyzes the JAGN1 gene to identify pathogenic variants responsible for severe congenital neutropenia type 6. The test examines:
- Complete JAGN1 gene sequencing for mutation detection
- Autosomal recessive inheritance pattern confirmation
- Pathogenic variants affecting neutrophil production
- Genetic markers associated with bone marrow dysfunction
- Mutation types including missense, nonsense, and frameshift variants
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Recurrent bacterial infections from early childhood
- Persistent neutropenia with absolute neutrophil counts below 500/μL
- Family history of severe congenital neutropenia
- Unexplained fevers and infections despite treatment
- Developmental delays associated with immune deficiencies
- Consanguineous parentage with neutropenia concerns
Clinical Benefits of Testing
Early genetic diagnosis through JAGN1 testing provides numerous advantages:
- Accurate diagnosis enabling targeted treatment strategies
- Proactive infection prevention and management protocols
- Genetic counseling for family planning decisions
- Personalized medical care based on genetic profile
- Improved quality of life through early intervention
- Reduced diagnostic uncertainty and medical costs
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your JAGN1 gene analysis:
- Positive Result: Identifies pathogenic variants confirming diagnosis, enabling immediate intervention and specialized care
- Negative Result: No JAGN1 mutations detected, suggesting alternative causes for neutropenia symptoms
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single gene copy mutations who may pass the condition to offspring
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide 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 other cities. Our state-of-the-art laboratories ensure accurate and reliable results with a standard turnaround time of 3-4 weeks.
Sample Collection and Preparation
We accept multiple sample types for your convenience:
- Blood samples collected at our certified facilities
- Extracted DNA from previous genetic testing
- One drop of blood on FTA card for easy transport
Pre-Test Requirements
Prior to testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our specialists
- Family pedigree chart development
- Discussion of testing implications and potential outcomes
Take Control of Your Genetic Health
Don’t let uncertainty about genetic conditions affect your family’s future. Our JAGN1 Gene Neutropenia Test provides the clarity needed for informed medical decisions and proactive health management. With our discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
