IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 NGS Genetic DNA Test
Comprehensive Introduction to IFIH1 Genetic Testing
The IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing methodology provides crucial insights into the genetic basis of Aicardi-Goutieres Syndrome Type 7, a rare autoimmune neurological disorder characterized by brain inflammation and progressive neurological deterioration. Early detection through this specialized genetic test enables timely intervention and personalized treatment strategies that can significantly improve patient outcomes and quality of life.
What This Test Measures and Detects
Our comprehensive NGS-based genetic analysis specifically targets the IFIH1 gene, which encodes the melanoma differentiation-associated protein 5 (MDA5). This test identifies:
- Pathogenic mutations in the IFIH1 gene associated with Aicardi-Goutieres Syndrome Type 7
- Specific genetic variants that disrupt normal immune system regulation
- Mutations leading to abnormal interferon production and autoimmune responses
- Inheritance patterns and carrier status information
- Genetic markers for early-onset neurological complications
Who Should Consider This Genetic Test
This specialized neurological genetic test is recommended for individuals presenting with:
- Unexplained neurological symptoms in infancy or early childhood
- Progressive microcephaly and developmental regression
- Chronic cerebrospinal fluid lymphocytosis
- Calcifications in basal ganglia and white matter abnormalities
- Family history of autoimmune neurological disorders
- Siblings of affected individuals for carrier screening
- Unexplained cerebral atrophy or leukodystrophy
Significant Benefits of Genetic Testing
Undergoing the IFIH1 genetic test provides numerous advantages:
- Early and accurate diagnosis of Aicardi-Goutieres Syndrome Type 7
- Personalized treatment planning based on genetic findings
- Improved understanding of disease progression and prognosis
- Family planning guidance and genetic counseling opportunities
- Access to targeted therapies and clinical trial eligibility
- Reduction in diagnostic uncertainty and medical odyssey
- Comprehensive neurological care coordination
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your IFIH1 test results:
- Positive Result: Indicates the presence of pathogenic IFIH1 mutations associated with Aicardi-Goutieres Syndrome Type 7, requiring comprehensive neurological management
- Negative Result: Suggests absence of known pathogenic mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and ongoing research correlation
- Carrier Status: Provides crucial information for family planning decisions
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
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, and San Jose. Our comprehensive network ensures accessible genetic testing services regardless of your location.
Take Action Today
Don’t let neurological uncertainty control your life. Our specialized IFIH1 genetic testing provides the clarity needed for informed medical decisions. Contact our genetic counseling team at +1(267) 388-9828 to schedule your comprehensive neurological genetic assessment and take the first step toward understanding your genetic health.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Specialty: Neurology
Department: Genetics
Method: NGS Technology
Disease Type: Neurological Disorders
