ARX Gene Early Infantile Epileptic Encephalopathy Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Neurological Disorders in Infants
The ARX Gene Early Infantile Epileptic Encephalopathy Type 1 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic test specifically targets mutations in the ARX (Aristaless-related homeobox) gene, which plays a critical role in brain development and function. Early infantile epileptic encephalopathy type 1 (EIEE1) is a severe neurological condition characterized by recurrent seizures that typically begin within the first few months of life, often leading to significant developmental delays and intellectual disabilities.
What This Test Measures and Detects
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire ARX gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the ARX gene
- Expansion mutations in the polyalanine tracts
- Frameshift mutations affecting protein function
- Missense and nonsense mutations impacting gene expression
- Various genetic alterations associated with X-linked inheritance patterns
Who Should Consider This Test
This genetic test is recommended for infants and children presenting with the following symptoms or clinical indications:
- Seizures beginning in the first 3 months of life
- Developmental regression or stagnation
- Hypotonia (reduced muscle tone)
- Abnormal brain development patterns
- Family history of X-linked neurological disorders
- Unexplained developmental delays in male infants
- Suspected epileptic encephalopathy syndromes
- Abnormal EEG patterns consistent with EIEE
Significant Benefits of ARX Gene Testing
Undergoing this specialized genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive identification of ARX gene mutations, enabling precise diagnosis
- Early Intervention: Facilitates timely therapeutic interventions and treatment planning
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Helps tailor antiepileptic medications and therapeutic approaches
- Prognostic Information: Provides insights into disease progression and expected outcomes
- Genetic Counseling Support: Enables comprehensive family risk assessment and management
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results with clear clinical implications:
- Positive Result: Indicates the presence of a pathogenic ARX gene mutation, confirming the diagnosis of EIEE1 and guiding specific treatment strategies
- Negative Result: Suggests that ARX gene mutations are not the cause of symptoms, directing further diagnostic evaluation toward other genetic causes
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact, requiring additional family studies and ongoing research correlation
- Carrier Status: For family members, identifies individuals who may carry the mutation without showing symptoms
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| ARX Gene Early Infantile Epileptic Encephalopathy Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| ARX Gene Early Infantile Epileptic Encephalopathy Type 1 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Accessibility and Support
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, and San Jose. Our comprehensive network ensures that advanced genetic testing is accessible to families nationwide.
Pre-Test Requirements and Sample Collection
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Sample collection options: Blood, Extracted DNA, or One drop Blood on FTA Card
- Turnaround time: 3 to 4 weeks for comprehensive results
Take the Next Step Toward Answers
If your infant is experiencing unexplained seizures, developmental delays, or you have concerns about potential genetic neurological conditions, the ARX Gene Early Infantile Epileptic Encephalopathy Type 1 NGS Genetic DNA Test can provide the clarity you need. Our team of genetic specialists and neurologists are ready to support your family through this diagnostic journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential test. Early diagnosis can make a significant difference in treatment outcomes and quality of life.
