RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the RNASEH2B gene, which are directly linked to Aicardi-Goutieres Syndrome Type 2 – a rare but serious neurological condition affecting brain development and function. Our state-of-the-art next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations that contribute to this complex disorder.
What This Test Measures and Detects
This specialized genetic test focuses on comprehensive analysis of the RNASEH2B gene using cutting-edge NGS methodology. The test identifies:
- Pathogenic mutations in the RNASEH2B gene associated with Aicardi-Goutieres Syndrome Type 2
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the RNASEH2B gene region
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms or circumstances:
- Infants and children with unexplained neurological symptoms
- Progressive microcephaly (abnormally small head size)
- Developmental delays and intellectual disability
- Spasticity and dystonia (muscle stiffness and involuntary movements)
- Chilblain lesions (cold-induced skin inflammation)
- Family history of Aicardi-Goutieres Syndrome or similar neurological conditions
- Unexplained cerebral atrophy or white matter abnormalities on brain imaging
- Siblings of affected individuals for carrier screening
Benefits of Genetic Testing
Undergoing the RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 test provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation for proper disease classification
- Early Intervention: Enables timely therapeutic interventions and management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted treatment approaches
- Prognostic Insights: Provides information about disease progression and potential complications
- Research Contribution: Contributes to ongoing research in rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your RNASEH2B gene status:
- Positive Result: Indicates the presence of pathogenic mutations associated with Aicardi-Goutieres Syndrome Type 2, requiring immediate consultation with a neurologist and genetic counselor
- Negative Result: Suggests no detectable mutations in the RNASEH2B gene, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact, requiring further evaluation and family studies
- Carrier Status: Determines if an individual carries one copy of a mutated gene, important for family planning decisions
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 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
Before scheduling your test, please ensure:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar neurological symptoms
- Referral from a neurologist or genetic specialist (recommended)
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic analysis, you can make informed decisions about your neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your neurological health journey.
