AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Neurological Disorders in Infants
The AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the AARS1 gene, which encodes alanyl-tRNA synthetase—a critical enzyme involved in protein synthesis. When this gene malfunctions, it leads to severe neurological conditions characterized by early-onset seizures, developmental delays, and progressive encephalopathy.
What This Revolutionary Test Detects
Our comprehensive NGS genetic analysis specifically targets:
- Pathogenic variants in the AARS1 gene associated with Early Infantile Epileptic Encephalopathy Type 29
- Single nucleotide polymorphisms (SNPs) affecting alanyl-tRNA synthetase function
- Copy number variations and structural abnormalities in the AARS1 gene region
- Novel mutations that may contribute to atypical presentations of the disorder
- Inheritance patterns to determine familial risk factors
Who Should Consider This Essential Genetic Test
This specialized genetic testing is recommended for infants and young children presenting with:
- Unexplained seizures beginning in the first months of life
- Developmental regression or stagnation in motor and cognitive skills
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological conditions
- Progressive neurological deterioration without clear diagnosis
- Multiple seizure types resistant to conventional anti-epileptic medications
Transformative Benefits of Genetic Testing
Undergoing the AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and provides definitive answers
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning Guidance: Informs reproductive decisions and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of supportive therapies
- Prognostic Information: Helps predict disease progression and long-term outcomes
- Research Contribution: Advances scientific understanding of rare genetic disorders
Understanding Your Genetic Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates the presence of pathogenic AARS1 gene mutations, confirming the diagnosis of Early Infantile Epileptic Encephalopathy Type 29
- Negative Result: Suggests that AARS1 gene mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional research and family studies
- Carrier Status: Determines if parents carry the mutation, informing future pregnancy planning
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood
Pre-test Requirements: Clinical history documentation and genetic counseling session
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, San Jose, and numerous other cities. Our network of certified genetic counselors and neurologists ensures comprehensive care coordination.
Take the Next Step Toward Answers
Don’t let diagnostic uncertainty delay your child’s care. Our expert team of genetic specialists and neurologists is ready to provide the clarity you need. Schedule your AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 NGS Genetic DNA Test today and take control of your child’s neurological health journey.
Call or WhatsApp us now at +1(267) 388-9828 to book your comprehensive genetic evaluation. Our compassionate team will guide you through every step of the testing process and ensure you receive the support and information necessary for informed healthcare decisions.
