G6PC3 Gene Neutropenia Severe Congenital Type 4 Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Congenital Neutropenia
The G6PC3 Gene Neutropenia Test represents a breakthrough in genetic diagnostics for immune system disorders. This specialized Next-Generation Sequencing (NGS) analysis targets the G6PC3 gene, which plays a critical role in neutrophil production and function. Severe congenital neutropenia type 4 is a rare autosomal recessive condition characterized by profoundly low neutrophil counts, leaving affected individuals vulnerable to severe bacterial infections from early infancy.
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic DNA test specifically identifies mutations in the G6PC3 gene located on chromosome 17q21. The test examines:
- Point mutations affecting glucose-6-phosphatase catalytic subunit 3 function
- Deletions and insertions disrupting gene expression
- Splice site variants impacting protein production
- Autosomal recessive inheritance patterns
- Complete gene sequencing for comprehensive mutation detection
Clinical Indications: Who Should Consider Testing
This genetic test is recommended for individuals presenting with:
- Persistent neutropenia with absolute neutrophil counts below 500/μL
- Recurrent severe bacterial infections starting in infancy
- Family history of neutropenia or immune disorders
- Unexplained fevers and infections despite antibiotic therapy
- Developmental delays associated with chronic infections
- Abnormal bone marrow findings suggesting maturation arrest
- Consanguineous parentage increasing autosomal recessive risk
Critical Symptoms Requiring Genetic Evaluation
Patients exhibiting the following symptoms should consider immediate genetic testing:
- Frequent pneumonia, otitis media, or skin abscesses
- Oral ulcers and gingivitis from early childhood
- Failure to thrive despite adequate nutrition
- Cardiac abnormalities sometimes associated with G6PC3 mutations
- Urogenital anomalies in some severe cases
- Persistent inflammatory responses without clear infection sources
Significant Benefits of Early Genetic Diagnosis
Obtaining a precise genetic diagnosis through our G6PC3 test provides numerous clinical advantages:
- Personalized Treatment Planning: Enables targeted therapies including granulocyte colony-stimulating factor (G-CSF)
- Infection Prevention Strategies: Guides prophylactic antibiotic regimens
- Family Planning Guidance: Provides accurate recurrence risk assessment for future pregnancies
- Avoidance of Unnecessary Procedures: Prevents repeated invasive bone marrow examinations
- Comprehensive Management Approach: Coordinates care across immunology, hematology, and genetics specialties
- Improved Quality of Life: Reduces infection-related hospitalizations and complications
Understanding Your Genetic Test Results
Our comprehensive genetic counseling ensures you fully understand your test outcomes:
- Positive Result: Confirms G6PC3 mutation and establishes definitive diagnosis
- Negative Result: Rules out G6PC3-related neutropenia, guiding investigation of alternative causes
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines autosomal recessive inheritance risk for family members
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | G6PC3 Gene Neutropenia Severe Congenital Type 4 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 |
Pre-Test Requirements and Genetic Counseling
Before testing, we provide comprehensive genetic counseling services including:
- Detailed clinical history assessment of patients undergoing G6PC3 testing
- Professional pedigree chart development documenting family members affected by G6PC3-related conditions
- Informed consent process explaining test limitations and implications
- Coordination with referring dermatologists, immunologists, and hematologists
- Insurance pre-authorization assistance when applicable
Nationwide Accessibility Across the United States
We maintain comprehensive testing facilities throughout major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and all principal cities across the United States. Our network ensures convenient sample collection and rapid result delivery regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic neutropenia conditions compromise your health or your family’s wellbeing. Our specialized genetic testing provides the clarity needed for effective medical management and informed healthcare decisions. Early diagnosis through our advanced NGS technology can significantly improve clinical outcomes and quality of life.
Call our genetic specialists now at +1(267) 388-9828 to schedule your comprehensive G6PC3 genetic analysis or book your test online through our secure patient portal. Take the first step toward definitive diagnosis and personalized treatment planning today.
