ARHGEF9 Gene Early Infantile Epileptic Encephalopathy Type 8 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Neurological Disorders
The ARHGEF9 Gene Early Infantile Epileptic Encephalopathy Type 8 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the ARHGEF9 gene, which plays a critical role in brain development and neurological function. Early Infantile Epileptic Encephalopathy Type 8 is a severe condition characterized by treatment-resistant seizures, developmental regression, and significant cognitive impairments that typically manifest within the first months of life.
What This Test Measures and Detects
This specialized genetic test specifically targets the ARHGEF9 gene located on the X chromosome, which encodes for collybistin—a protein essential for proper synaptic function in the brain. The test detects:
- Pathogenic variants and mutations in the ARHGEF9 gene
- Single nucleotide polymorphisms (SNPs) associated with neurological dysfunction
- Deletions, duplications, and insertions affecting gene function
- X-linked inheritance patterns crucial for family genetic counseling
Who Should Consider This Test
This genetic test is recommended for infants and children presenting with:
- Early-onset seizures within the first 6 months of life
- Developmental regression or stagnation
- Hypotonia (reduced muscle tone) and motor coordination issues
- Intellectual disability and cognitive impairments
- Family history of X-linked neurological disorders
- Unexplained encephalopathy or brain dysfunction
- Abnormal EEG patterns consistent with epileptic encephalopathy
Significant Benefits of Early Genetic Testing
Early diagnosis through ARHGEF9 gene testing provides numerous advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of neurological symptoms
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and future family planning
- Prognostic Information: Helps predict disease progression and potential outcomes
- Early Intervention: Facilitates timely implementation of developmental therapies
- Reduced Diagnostic Odyssey: Minimizes unnecessary medical testing and procedures
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results:
- Positive Result: Indicates a pathogenic mutation in the ARHGEF9 gene, confirming the diagnosis of Early Infantile Epileptic Encephalopathy Type 8
- Negative Result: Suggests no detectable mutations in the ARHGEF9 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown, requiring ongoing monitoring
- Carrier Status: For family members, identifies individuals who carry the mutation but may not show symptoms
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ARHGEF9 Gene Early Infantile Epileptic Encephalopathy Type 8 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar neurological symptoms
- Referral from a neurologist or genetic specialist
Nationwide Accessibility
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, San Jose, and many more. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Answers
Don’t let uncertainty about your child’s neurological health continue. Early diagnosis can make a significant difference in treatment outcomes and quality of life. Our expert team is ready to guide you through the testing process and provide the answers your family deserves.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the ARHGEF9 Gene Test. Take control of your child’s neurological health with comprehensive genetic testing from America’s trusted genetics laboratory.
