NGS Sequencing Aicardi-Goutières Syndrome Test
Comprehensive Genetic Analysis for Rare Neurological Disorders
The NGS Sequencing Aicardi-Goutières Syndrome Test represents a cutting-edge diagnostic approach for identifying one of medicine’s most challenging pediatric neurological conditions. Aicardi-Goutières Syndrome (AGS) is a rare, inherited encephalopathy that typically manifests in infancy, characterized by progressive brain inflammation, neurological deterioration, and developmental regression. This sophisticated genetic test utilizes next-generation sequencing technology to provide definitive answers for families and healthcare providers navigating complex neurological presentations in young children.
What This Advanced Genetic Test Detects
Our comprehensive NGS panel specifically analyzes seven critical genes known to be associated with Aicardi-Goutières Syndrome:
- ADAR: Involved in RNA editing and immune regulation
- IFIH1: Plays a crucial role in antiviral defense mechanisms
- RNASEH2A, RNASEH2B, RNASEH2C: Ribonuclease H2 complex components essential for DNA replication
- SAMHD1: Regulates intracellular nucleotide pools and viral restriction
- TREX1: DNA exonuclease critical for preventing autoimmune responses
Mutations in any of these genes can disrupt normal cellular processes, leading to the characteristic neuroinflammatory features of AGS. Our test provides complete sequencing coverage of all coding regions and flanking intronic sequences to ensure maximum detection sensitivity.
Who Should Consider Aicardi-Goutières Syndrome Testing?
Clinical Indications and Symptom Presentation
This specialized genetic test is recommended for infants and children presenting with the following neurological symptoms:
- Unexplained encephalopathy or progressive neurological decline in early infancy
- Developmental regression following initial normal development
- Microcephaly or acquired microcephaly with progressive head circumference decline
- Chorea, dystonia, or other movement disorders
- Intracranial calcifications visible on neuroimaging studies
- Elevated cerebrospinal fluid white blood cells and interferon-alpha levels
- Family history of similar neurological conditions or consanguinity
- Clinical features resembling congenital viral infections without evidence of infection
Early genetic testing is particularly crucial when symptoms appear between 3-6 months of age, as timely diagnosis can significantly impact management strategies and family planning decisions.
Significant Benefits of Genetic Testing for AGS
Transforming Diagnostic Uncertainty into Clarity
Choosing the NGS Sequencing Aicardi-Goutières Syndrome Test provides multiple advantages for patients, families, and healthcare providers:
- Definitive Diagnosis: Move beyond clinical suspicion to genetic confirmation, eliminating diagnostic uncertainty
- Personalized Management: Guide appropriate therapeutic interventions based on specific genetic findings
- Prognostic Information: Understand potential disease progression and long-term outcomes
- Family Planning: Provide accurate recurrence risk counseling for future pregnancies
- Research Opportunities: Contribute to ongoing studies and potential access to clinical trials
- Early Intervention: Implement supportive care strategies before significant neurological damage occurs
- Differential Diagnosis: Rule out other genetic conditions with overlapping clinical features
Understanding Your Genetic Test Results
Comprehensive Result Interpretation Guidance
Our detailed genetic analysis report provides clear, clinically actionable information:
- Pathogenic Variants: Identification of disease-causing mutations with established clinical significance
- Likely Pathogenic Variants: Genetic changes strongly suspected to cause disease based on available evidence
- Variants of Uncertain Significance: Genetic alterations where clinical impact remains unclear, requiring additional family studies
- Benign Variants: Common genetic polymorphisms not associated with disease risk
- Negative Results: No pathogenic variants detected in the analyzed genes
All results include detailed interpretation by board-certified molecular geneticists, with specific recommendations for clinical management and additional testing when appropriate. Genetic counseling is strongly recommended to help families understand the implications of test results and make informed healthcare decisions.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | NGS Sequencing Aicardi-Goutières Syndrome Test |
| Regular Price | $650 USD |
| Discount Price | $586 USD |
| Turnaround Time | Sample Daily by 9 am; Report 40 Working Days |
| Sample Type | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Required Documentation | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory |
| Testing Methodology | Next-Generation Sequencing (NGS) with Sanger sequencing confirmation |
| Specialties | Neurology, Pediatrics, Medical Genetics |
| Department | Molecular Diagnostics |
Nationwide Accessibility and Convenient Testing
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 facilities ensures that high-quality genetic testing is accessible to families nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay appropriate care for your child. Our specialized genetic testing team is ready to assist you with comprehensive Aicardi-Goutières Syndrome analysis. Contact us today to schedule your test or speak with our genetic counseling specialists.
Call or WhatsApp: +1(267) 388-9828
Book your NGS Sequencing Aicardi-Goutières Syndrome Test today and take the first step toward definitive diagnosis and personalized management strategies. Our experienced team is committed to providing accurate, timely genetic information to guide your healthcare decisions.
