SCN10A Gene Episodic Pain Syndrome Type 2 Familial NGS Genetic DNA Test
Understanding SCN10A Gene Episodic Pain Syndrome
The SCN10A Gene Episodic Pain Syndrome Type 2 Familial NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This specialized test examines the SCN10A gene, which encodes the Nav1.8 sodium channel protein crucial for pain signal transmission in peripheral nerves. Mutations in this gene can lead to inherited episodic pain syndrome type 2, characterized by sudden, severe pain attacks without identifiable triggers.
Episodic pain syndrome type 2 is an autosomal dominant condition, meaning a single copy of the mutated gene from either parent can cause the disorder. The condition typically manifests in childhood or early adulthood and can significantly impact quality of life. Our advanced testing provides definitive diagnosis, enabling targeted treatment approaches and informed family planning decisions.
What the Test Measures and Detects
This comprehensive genetic analysis utilizes next-generation sequencing (NGS) technology to examine the entire SCN10A gene for pathogenic variants. The test specifically identifies:
- Missense mutations affecting sodium channel function
- Frameshift mutations disrupting protein structure
- Nonsense mutations leading to truncated proteins
- Splice site variants affecting gene expression
- Copy number variations and deletions
The SCN10A gene mutations alter the properties of Nav1.8 sodium channels, making them hyperactive and causing spontaneous firing of pain signals. This results in the characteristic episodic pain attacks that define the syndrome.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing:
- Recurrent, unexplained pain episodes lasting minutes to hours
- Pain attacks occurring without apparent triggers
- Family history of similar episodic pain conditions
- Onset of symptoms in childhood or early adulthood
- Pain described as burning, shooting, or electric shock-like
- Normal neurological examination between episodes
- Lack of response to conventional pain medications
Family History Considerations
Individuals with first-degree relatives diagnosed with episodic pain syndrome or those with multiple family members experiencing similar symptoms should strongly consider genetic testing. The familial pattern often follows autosomal dominant inheritance.
Benefits of SCN10A Genetic Testing
Undergoing SCN10A genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out genetic cause of episodic pain
- Personalized Treatment: Enables targeted therapy with sodium channel blockers
- Genetic Counseling: Provides information for family planning decisions
- Early Intervention: Allows proactive management in at-risk family members
- Psychological Relief: Reduces diagnostic uncertainty and anxiety
- Research Contribution: Advances understanding of pain genetics
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the SCN10A gene. This confirms the diagnosis of episodic pain syndrome type 2 and provides valuable information for:
- Initiating appropriate sodium channel blocker therapy
- Genetic counseling for family members
- Monitoring for potential complications
- Lifestyle modifications to manage symptoms
Negative Result Interpretation
A negative result suggests that SCN10A mutations are not the cause of symptoms. However, this doesn’t exclude other genetic or non-genetic causes of episodic pain. Further evaluation may be necessary to identify alternative diagnoses.
Variant of Uncertain Significance
In some cases, the test may identify genetic changes with unclear clinical significance. These results require careful interpretation by genetic specialists and may warrant additional family studies.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SCN10A Gene Episodic Pain Syndrome Type 2 Familial NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
| Specialty | Neurology, Genetics |
Pre-Test Requirements
Before testing, patients must provide:
- Complete clinical history related to episodic pain symptoms
- Participation in genetic counseling session
- Development of pedigree chart documenting affected family members
- Informed consent for genetic testing
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States. We have established branches in all major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston and Texas facilities
- Phoenix and Southwest centers
- Miami and Florida locations
- Seattle and Pacific Northwest sites
Our network ensures accessible genetic testing and counseling services regardless of your location within the United States.
Take Control of Your Genetic Health
Don’t let unexplained episodic pain control your life. The SCN10A Gene Episodic Pain Syndrome Type 2 Familial NGS Genetic DNA Test provides the answers you need for proper diagnosis and targeted treatment. Our team of genetic specialists and neurologists are ready to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic health and managing your symptoms effectively.
Our dedicated genetic counselors are available to discuss your family history, explain the testing process, and address any concerns you may have about genetic testing for episodic pain disorders.
