RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic DNA Test
Comprehensive Introduction to RNASEH2A Genetic Testing
The RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the RNASEH2A gene, which plays a crucial role in DNA replication and repair processes. When this gene malfunctions, it can lead to Aicardi-Goutieres syndrome type 4, a rare but serious autoimmune disorder that primarily affects the central nervous system in infants and young children.
Early and accurate diagnosis through this test is paramount because Aicardi-Goutieres syndrome type 4 can mimic other neurological conditions, making precise genetic identification essential for appropriate medical management. The test’s importance extends beyond diagnosis to include family planning decisions and understanding recurrence risks for future pregnancies.
What This Advanced Genetic Test Detects
Our RNASEH2A Gene NGS Test utilizes cutting-edge Next-Generation Sequencing technology to comprehensively analyze the entire RNASEH2A gene. This sophisticated approach enables us to detect:
- Pathogenic variants and mutations in the RNASEH2A gene
- Single nucleotide polymorphisms (SNPs) associated with disease development
- Insertions, deletions, and other structural variations
- Compound heterozygous mutations that may contribute to disease severity
- Novel genetic variants with potential clinical significance
The test specifically identifies abnormalities that disrupt the normal function of ribonuclease H2 complex, leading to the accumulation of nucleic acids and triggering autoimmune responses characteristic of Aicardi-Goutieres syndrome.
Who Should Consider RNASEH2A Genetic Testing
This specialized genetic test is recommended for individuals presenting with specific clinical indications:
Primary Clinical Scenarios
- Infants and children exhibiting unexplained neurological symptoms including:
- Progressive microcephaly (abnormally small head size)
- Developmental regression or delayed milestones
- Spasticity and dystonia (muscle stiffness and abnormal movements)
- Chilblain lesions on fingers, toes, and ears
- Intracranial calcifications visible on brain imaging
- Patients with suspected autoimmune encephalitis of unknown origin
- Families with a history of similar neurological disorders
- Siblings of diagnosed individuals for carrier status determination
Diagnostic Clarification
The test is particularly valuable when clinical presentation overlaps with other conditions such as congenital infections, other leukodystrophies, or metabolic disorders, helping to provide definitive diagnostic clarity.
Significant Benefits of Early Genetic Testing
Undergoing RNASEH2A genetic testing offers multiple advantages for patients and families:
- Accurate Diagnosis: Provides definitive identification of Aicardi-Goutieres syndrome type 4, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to the growing understanding of rare neurological disorders
- Early Intervention: Facilitates timely implementation of supportive therapies and management strategies
Understanding Your Test Results
Interpreting RNASEH2A genetic test results requires specialized expertise. Our comprehensive reporting includes:
Result Categories
- Positive Result: Indicates the presence of pathogenic mutations consistent with Aicardi-Goutieres syndrome type 4 diagnosis
- Negative Result: Suggests no detectable mutations in the RNASEH2A gene, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Post-Test Guidance
All positive results are accompanied by detailed genetic counseling to help families understand implications, inheritance patterns, and management recommendations. Our team provides ongoing support for result interpretation and coordinates with treating neurologists for comprehensive care planning.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 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 |
| Specialty | Neurology & Genetics |
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 other cities. Our network of certified collection centers ensures accessible testing regardless of your location.
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Review of previous neurological evaluations and imaging studies
- Discussion of testing implications with treating neurologist
Take the Next Step Toward Clarity
Don’t let diagnostic uncertainty delay appropriate care. Our RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions. With our discounted price of $500 USD and comprehensive nationwide coverage, accessing this advanced genetic testing has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your test or speak with our genetic specialists. Take control of your neurological health with precise genetic insights from America’s leading diagnostic provider.
