ARHGEF9 Gene Hyperekplexia EIEE8 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The ARHGEF9 Gene Hyperekplexia EIEE8 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with rare but serious neurological conditions. This advanced testing method utilizes Next-Generation Sequencing (NGS) technology to analyze the ARHGEF9 gene, which plays a critical role in neurological development and function.
What This Test Measures and Detects
This specialized genetic test specifically targets mutations in the ARHGEF9 gene that are known to cause:
- Hyperekplexia (exaggerated startle response syndrome)
- Early Infantile Epileptic Encephalopathy Type 8 (EIEE8)
- Genetic variations affecting glycine receptor function
- Inherited neurological disorders in infancy and childhood
The ARHGEF9 gene encodes for collybistin, a protein essential for proper clustering of inhibitory glycine receptors in the nervous system. Mutations in this gene disrupt normal neurological signaling, leading to the characteristic symptoms of hyperekplexia and epileptic encephalopathy.
Who Should Consider This Test
This genetic test is particularly recommended for individuals displaying:
- Unexplained exaggerated startle responses to sudden stimuli
- Infantile-onset seizures that are difficult to control
- Muscle stiffness (hypertonia) following startle episodes
- Developmental delays in early childhood
- Family history of hyperekplexia or early infantile epilepsy
- Unexplained neurological symptoms in infancy
- Children with suspected genetic epilepsy syndromes
Key Benefits of ARHGEF9 Genetic Testing
- Early Diagnosis: Enables prompt identification of genetic neurological disorders
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and family planning decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes between similar neurological conditions
- Research Contribution: Advances understanding of rare genetic neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists and neurologists:
- Positive Result: Indicates the presence of ARHGEF9 gene mutations associated with hyperekplexia or EIEE8
- Negative Result: Suggests no detectable mutations in the ARHGEF9 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Some genetic variations may require additional family studies for proper interpretation
- Carrier Status: Identifies individuals who carry the mutation but may not show symptoms
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing Information
| Test Feature | Details |
|---|---|
| Test Name | ARHGEF9 Gene Hyperekplexia EIEE8 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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, high-quality diagnostic services for patients nationwide.
Take Control of Your Neurological Health
Don’t let unexplained neurological symptoms go undiagnosed. The ARHGEF9 Gene Hyperekplexia EIEE8 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and treatment planning. Our team of genetic specialists and neurologists are ready to help you understand your genetic profile and develop an appropriate care strategy.
Book your genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your neurological health with confidence and precision.
