ELANE Gene Neutropenia Severe Congenital Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Congenital Neutropenia
The ELANE Gene Neutropenia Severe Congenital Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hematological disorders. This advanced test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the ELANE gene, which plays a critical role in neutrophil development and function. Severe congenital neutropenia type 1 is a rare inherited condition characterized by persistently low neutrophil counts, leading to increased susceptibility to bacterial infections from early infancy.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets and analyzes the ELANE gene (also known as neutrophil elastase gene) located on chromosome 19p13.3. The test detects:
- Point mutations in the ELANE gene coding regions
- Small insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Specific genetic variants associated with severe congenital neutropenia type 1
- Mutations that disrupt neutrophil elastase production and function
The NGS technology employed provides high-resolution analysis of the entire ELANE gene, ensuring comprehensive coverage and accurate detection of even rare mutations that might be missed by conventional testing methods.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical scenarios:
- Infants and children with recurrent bacterial infections starting in early infancy
- Patients with persistent neutropenia (absolute neutrophil count <500/μL)
- Individuals with frequent skin abscesses, pneumonia, or otitis media
- Patients with oral ulcers, gingivitis, or periodontal disease
- Those with unexplained fever episodes and infection susceptibility
- Individuals with a family history of neutropenia or recurrent infections
- Patients being evaluated for bone marrow transplantation consideration
- Individuals requiring confirmation of clinical diagnosis for treatment planning
Significant Benefits of ELANE Gene Testing
Undergoing the ELANE Gene Neutropenia Severe Congenital Type 1 NGS Genetic DNA Test offers numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of severe congenital neutropenia type 1
- Personalized Treatment: Enables targeted therapy with granulocyte colony-stimulating factor (G-CSF)
- Risk Assessment: Identifies mutation carriers and assesses transmission risk to offspring
- Early Intervention: Facilitates proactive management before severe complications develop
- Family Planning: Supports informed reproductive decisions through genetic counseling
- Monitoring Strategy: Guides appropriate surveillance for potential leukemic transformation
- Therapeutic Optimization: Helps determine optimal G-CSF dosing and monitoring protocols
Understanding Your Test Results
Your ELANE gene test results will be carefully interpreted by our expert geneticists and hematologists:
- Positive Result: Identification of a pathogenic mutation confirms the diagnosis of severe congenital neutropenia type 1 and guides specific treatment recommendations
- Negative Result: Absence of ELANE mutations suggests other causes of neutropenia should be investigated
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation
- Carrier Status: Identification of mutation carriers enables appropriate genetic counseling for family members
All positive results include detailed clinical correlation and management recommendations from our specialized hematology team.
Test Pricing and Availability
| Test Description | Regular Price | Discount Price |
|---|---|---|
| ELANE Gene Neutropenia Severe Congenital Type 1 NGS Genetic DNA Test | $700 USD | $500 USD |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing 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 collection centers ensures accessible testing regardless of your location.
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss implications and create family pedigree
- Review of current hematological parameters and infection history
- Discussion of potential outcomes and their clinical significance
Take Control of Your Health Today
Don’t let uncertainty about neutropenia symptoms affect your quality of life. The ELANE Gene Neutropenia Severe Congenital Type 1 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our expert team of hematologists and genetic counselors is ready to support you through every step of the testing process.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward accurate diagnosis and personalized treatment planning for severe congenital neutropenia.
