HAX1 Gene Neutropenia Severe Congenital Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Congenital Neutropenia
The HAX1 Gene Neutropenia Severe Congenital Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hematological disorders. This advanced next-generation sequencing (NGS) test specifically targets mutations in the HAX1 gene, which plays a critical role in neutrophil development and function. Severe congenital neutropenia type 3 is a rare inherited condition characterized by persistently low neutrophil counts, leading to increased susceptibility to bacterial infections from early infancy.
What This Test Measures and Detects
Our comprehensive NGS genetic DNA test analyzes the complete HAX1 gene sequence to identify pathogenic variants associated with severe congenital neutropenia type 3. The test specifically detects:
- Point mutations in the HAX1 gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations impacting HAX1 expression
- Specific genetic markers linked to neutrophil maturation defects
- Inheritance patterns for family risk assessment
The HAX1 gene encodes a mitochondrial protein essential for maintaining neutrophil survival and function. Mutations in this gene disrupt normal neutrophil development, leading to the characteristic features of severe congenital neutropenia.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with the following clinical indications:
- Infants or children with recurrent bacterial infections starting in early childhood
- Patients with persistently low absolute neutrophil counts (<500/μL)
- Individuals with unexplained fever, mouth ulcers, or skin abscesses
- Those with family history of neutropenia or consanguineous parents
- Patients requiring differential diagnosis from other forms of neutropenia
- Individuals considering family planning with known neutropenia history
Clinical Benefits of HAX1 Genetic Testing
Undergoing the HAX1 Gene Neutropenia test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms severe congenital neutropenia type 3 with genetic certainty
- Personalized Treatment: Guides appropriate granulocyte colony-stimulating factor (G-CSF) therapy
- Risk Assessment: Determines inheritance patterns for family members
- Early Intervention: Enables proactive infection prevention strategies
- Bone Marrow Transplant Planning: Informs decisions about curative hematopoietic stem cell transplantation
- Genetic Counseling: Provides basis for informed reproductive choices
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your HAX1 gene analysis:
- Positive Result: Identifies pathogenic HAX1 mutation confirming severe congenital neutropenia type 3 diagnosis
- Negative Result: No HAX1 mutations detected, suggesting alternative causes for neutropenia
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance risk for future generations
All results include detailed clinical implications and recommendations for follow-up care with hematology specialists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic testing facilities ensures accessible, reliable testing services nationwide.
Pre-Test Requirements
Before scheduling your HAX1 Gene Neutropenia test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Review of current hematological laboratory findings
- Discussion of test implications with healthcare provider
Our genetic counselors are available to assist with pre-test preparation and answer any questions about the testing process.
Take Control of Your Genetic Health Today
Don’t let uncertainty about neutropenia symptoms affect your quality of life. Our HAX1 Gene Neutropenia Severe Congenital Type 3 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and treatment planning. With advanced NGS technology and expert genetic analysis, we deliver accurate, reliable results to guide your healthcare journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
