SCN2A Gene Dravet Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The SCN2A Gene Dravet Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with severe childhood epilepsy syndromes. This advanced testing methodology provides crucial insights for families and healthcare providers dealing with complex neurological conditions that often present diagnostic challenges.
What Does the SCN2A Gene Test Measure?
This sophisticated genetic test specifically analyzes the SCN2A gene using Next-Generation Sequencing technology to identify pathogenic variants that cause Dravet syndrome and related neurological disorders. The SCN2A gene encodes the sodium channel protein Nav1.2, which plays a critical role in neuronal excitability and brain function.
- Detects point mutations, insertions, and deletions in the SCN2A gene
- Identifies both inherited and de novo genetic variants
- Provides comprehensive coverage of all coding regions and splice sites
- Analyzes variants associated with seizure susceptibility and developmental disorders
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals displaying specific clinical presentations that suggest SCN2A-related disorders:
- Children with early-onset seizures (typically before 12 months)
- Patients with treatment-resistant epilepsy that doesn’t respond to standard medications
- Individuals with developmental regression or cognitive impairment following seizure onset
- Patients with family history of epilepsy syndromes or neurological disorders
- Children exhibiting temperature-sensitive seizures or febrile seizure clusters
- Individuals with abnormal EEG patterns consistent with Dravet syndrome
Clinical Benefits of SCN2A Genetic Testing
Obtaining a precise genetic diagnosis through SCN2A testing offers numerous advantages for patient care and family planning:
- Accurate Diagnosis: Provides definitive identification of the underlying genetic cause of neurological symptoms
- Treatment Guidance: Helps neurologists select appropriate anti-epileptic medications and avoid ineffective treatments
- Prognostic Information: Offers insights into disease progression and potential complications
- Family Planning: Enables genetic counseling for recurrence risk assessment in future pregnancies
- Early Intervention: Facilitates timely implementation of appropriate therapies and support services
- Research Opportunities: Connects families with clinical trials and emerging treatment options
Understanding Your Test Results
Our comprehensive genetic counseling services help patients and families interpret SCN2A test results effectively:
- Positive Result: Indicates the presence of a pathogenic SCN2A variant, confirming the genetic diagnosis and guiding targeted management strategies
- Negative Result: Suggests that SCN2A mutations are not the cause of symptoms, prompting consideration of alternative genetic testing
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation and family studies
- Carrier Status: Provides information about inheritance patterns and recurrence risks for family members
Test Pricing and Availability
| Price Type | Amount (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
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications and potential results with a genetic specialist
- Informed consent process addressing privacy, insurance, and psychological considerations
Nationwide Testing Availability
We proudly offer SCN2A genetic testing services across the United States, with convenient 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 coordination regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our SCN2A Gene Dravet Syndrome NGS Genetic DNA Test provides the genetic answers you need to make informed healthcare decisions. Contact our genetic specialists today to schedule your consultation and testing appointment.
Call or WhatsApp: +1(267) 388-9828
Book your comprehensive genetic evaluation and take control of your neurological health journey with confidence and clarity.
