SCN11A Gene Episodic Pain Syndrome Type 3 Familial NGS Genetic DNA Test
Understanding SCN11A Gene Episodic Pain Syndrome
The SCN11A Gene Episodic Pain Syndrome Type 3 Familial NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the SCN11A gene that cause inherited episodic pain disorders. This condition, medically known as familial episodic pain syndrome type 3, is characterized by recurrent, severe pain episodes that can significantly impact quality of life. The SCN11A gene encodes the Nav1.9 sodium channel protein, which plays a critical role in pain signaling pathways within the peripheral nervous system. When mutations occur in this gene, they can lead to abnormal sodium channel function, resulting in heightened pain sensitivity and spontaneous pain episodes without apparent triggers.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically targets and analyzes the complete coding region of the SCN11A gene to identify pathogenic variants associated with episodic pain syndrome type 3. The test examines:
- All exons and flanking intronic regions of the SCN11A gene
- Point mutations, insertions, and deletions affecting sodium channel function
- Genetic variants that alter pain perception pathways
- Inheritance patterns through familial genetic analysis
- Specific mutations linked to episodic pain episodes and neurological symptoms
Key Clinical Features Detected
The test identifies genetic markers associated with characteristic symptoms including sudden onset pain attacks, burning sensations, electric shock-like pains, and episodes of intense discomfort that may last from minutes to several hours. These symptoms typically begin in childhood or early adulthood and can affect various body regions.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals experiencing:
- Recurrent, unexplained pain episodes without identifiable causes
- Family history of similar pain disorders across multiple generations
- Childhood-onset pain symptoms that persist into adulthood
- Pain episodes triggered by minor stimuli or occurring spontaneously
- Neurological symptoms including tingling, numbness, or burning sensations
- Failed responses to conventional pain management treatments
- Unexplained autonomic symptoms accompanying pain episodes
Clinical Indications for Testing
Patients presenting with episodic pain patterns, especially those with positive family histories, should consider genetic testing. Early diagnosis can significantly impact treatment approaches and provide clarity for affected families about inheritance risks and management strategies.
Significant Benefits of Genetic Testing
Undergoing the SCN11A genetic test offers numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive genetic confirmation of episodic pain syndrome type 3
- Personalized Treatment: Enables targeted pain management strategies based on genetic findings
- Family Planning Guidance: Offers insights into inheritance patterns and recurrence risks
- Early Intervention: Facilitates proactive management before symptoms worsen
- Reduced Diagnostic Uncertainty: Eliminates years of uncertainty and misdiagnosis
- Improved Quality of Life: Leads to more effective pain control and symptom management
- Genetic Counseling Support: Provides comprehensive guidance for patients and families
Understanding Your Genetic Test Results
Our comprehensive genetic counseling services help patients interpret their test results with clarity and confidence:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic variant in the SCN11A gene associated with episodic pain syndrome type 3. This confirmation enables:
- Targeted pharmacological interventions specific to sodium channel disorders
- Development of personalized pain management protocols
- Family member screening recommendations
- Long-term monitoring and preventive care planning
Negative Result Interpretation
A negative result suggests that no known pathogenic variants were detected in the SCN11A gene. However, this doesn’t completely rule out genetic causes, as:
- Rare or novel mutations may not be detected by current testing methods
- Other genetic or non-genetic factors may contribute to symptoms
- Additional testing may be recommended based on clinical presentation
Variant of Uncertain Significance
Some results may identify genetic changes with unclear clinical implications. In such cases, our genetic specialists provide:
- Detailed explanation of the variant’s potential significance
- Recommendations for additional family member testing
- Guidance on clinical monitoring and follow-up care
- Updates as new research emerges about specific variants
Test Pricing and Service Details
| Service Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before testing, patients should provide:
- Complete clinical history related to episodic pain symptoms
- Participation in genetic counseling session
- Family pedigree chart documenting affected relatives
- Informed consent for genetic testing
Nationwide Testing Availability
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 many other cities. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take Control of Your Neurological Health Today
Don’t let unexplained pain episodes control your life. Our SCN11A Gene Episodic Pain Syndrome Type 3 Familial NGS Genetic DNA Test provides the answers you need for effective management and treatment. With advanced next-generation sequencing technology and expert genetic counseling, we deliver accurate, reliable results that can transform your approach to pain management.
Ready to begin your genetic testing journey? Contact our specialist team today at +1(267) 388-9828 or book your consultation online. Take the first step toward understanding your genetic profile and developing a personalized treatment plan for episodic pain syndrome.
