WWOX Gene Early Infantile Epileptic Encephalopathy Type 28 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Infant Epilepsy
The WWOX Gene Early Infantile Epileptic Encephalopathy Type 28 NGS Genetic DNA Test represents a breakthrough in pediatric neurology diagnostics. This advanced genetic test utilizes next-generation sequencing technology to identify mutations in the WWOX gene that are responsible for Early Infantile Epileptic Encephalopathy Type 28 (EIEE28), a severe form of infant-onset epilepsy that can have devastating consequences if left undiagnosed.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the WWOX (WW Domain Containing Oxidoreductase) gene located on chromosome 16. The test employs sophisticated NGS technology to:
- Sequence the entire WWOX gene coding region
- Identify point mutations, insertions, and deletions
- Detect pathogenic variants associated with EIEE28
- Analyze gene expression patterns
- Provide detailed mutation characterization
Who Should Consider This Genetic Test
This test is particularly recommended for infants and children presenting with:
- Early-onset seizures within the first months of life
- Treatment-resistant epilepsy that doesn’t respond to standard medications
- Developmental regression or stagnation
- Abnormal EEG patterns characteristic of epileptic encephalopathy
- Family history of similar neurological conditions
- Unexplained developmental delays with seizure activity
Clinical Benefits of Genetic Testing
Obtaining a definitive genetic diagnosis through this test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out EIEE28 with high precision
- Treatment Guidance: Helps neurologists develop targeted treatment strategies
- Prognostic Information: Provides insight into disease progression and outcomes
- Family Planning: Enables genetic counseling for future pregnancies
- Early Intervention: Facilitates timely therapeutic interventions
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the WWOX gene associated with EIEE28. This confirmation enables:
- Implementation of specific anti-epileptic treatment protocols
- Development of personalized care plans
- Family genetic counseling sessions
- Connection with support networks and specialized care centers
Negative Result Interpretation
A negative result suggests that WWOX gene mutations are not the cause of the patient’s symptoms, guiding physicians toward alternative diagnostic pathways and other potential genetic causes of infantile epilepsy.
Variant of Uncertain Significance (VUS)
In some cases, the test may identify genetic changes whose clinical significance is currently unknown. Our genetic counseling team provides comprehensive guidance on next steps and monitoring recommendations.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | WWOX Gene Early Infantile Epileptic Encephalopathy Type 28 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 patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing for families nationwide.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of seizure characteristics and developmental milestones
- Previous neurological evaluation records
Take the Next Step Toward Answers
Don’t let uncertainty about your child’s neurological condition continue. Our specialized genetic testing provides the clarity needed to make informed medical decisions and develop effective treatment strategies. Our team of genetic counselors and neurologists are ready to support your family through this diagnostic journey.
Book your WWOX Gene Early Infantile Epileptic Encephalopathy Type 28 NGS Genetic DNA Test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Take advantage of our special pricing at $500 USD and get the answers your family deserves.
