SCN2A Gene Convulsions Benign Familial Infantile 3 NGS Genetic DNA Test
Comprehensive Introduction to SCN2A Genetic Testing
The SCN2A Gene Convulsions Benign Familial Infantile 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited seizure disorders in infants and young children. This specialized genetic test focuses on the SCN2A gene, which encodes sodium channel proteins crucial for proper neuronal function and signal transmission in the brain. When mutations occur in this gene, they can disrupt normal electrical activity in the nervous system, leading to benign familial infantile convulsions – a specific type of inherited epilepsy that typically manifests during early infancy.
Understanding the genetic basis of these seizure disorders is paramount for several reasons. First, it enables accurate diagnosis and differentiation from other seizure types with different prognoses and treatment approaches. Second, it provides families with crucial information about inheritance patterns and recurrence risks. Third, it helps guide appropriate treatment strategies that may be more effective for specific genetic forms of epilepsy. The importance of this testing extends beyond immediate clinical management to long-term family planning and genetic counseling considerations.
What the SCN2A Test Measures and Detects
This advanced genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the SCN2A gene for pathogenic variants. The test specifically targets:
- Point mutations and single nucleotide variants in the SCN2A gene
- Small insertions and deletions that may disrupt gene function
- Missense, nonsense, and frameshift mutations affecting sodium channel proteins
- Genetic variations associated with benign familial infantile seizures type 3
- Inheritance patterns through family genetic analysis
The SCN2A gene encodes the alpha subunit of voltage-gated sodium channels, which are essential for generating and propagating action potentials in neurons. Mutations in this gene can alter channel function, leading to neuronal hyperexcitability and increased susceptibility to seizures. The NGS approach provides high-resolution analysis of the entire coding region and critical regulatory elements, ensuring comprehensive detection of clinically relevant variants.
Who Should Consider SCN2A Genetic Testing
This specialized genetic test is recommended for individuals and families experiencing specific clinical presentations:
Primary Indications:
- Infants and children with recurrent, brief seizures typically beginning between 3-12 months of age
- Individuals with family history of benign infantile seizures or epilepsy
- Patients with seizure disorders that respond well to specific anti-epileptic medications
- Children experiencing clusters of focal seizures with possible secondary generalization
Clinical Symptoms Warranting Testing:
- Recurrent brief seizure episodes lasting seconds to minutes
- Seizures characterized by staring spells, eye deviation, or subtle motor movements
- Normal development between seizure episodes
- Family history of similar seizure patterns in infancy
- Seizures that typically resolve by age 2-3 years
Significant Benefits of SCN2A Genetic Testing
Undergoing SCN2A genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms the specific genetic cause of seizure disorders, enabling precise classification
- Targeted Treatment: Guides selection of appropriate anti-epileptic medications based on genetic findings
- Prognostic Information: Provides insights into expected clinical course and long-term outcomes
- Genetic Counseling: Enables informed family planning decisions and recurrence risk assessment
- Early Intervention: Facilitates timely management strategies to minimize seizure impact
- Family Screening: Identifies at-risk relatives who may benefit from monitoring or preventive measures
Understanding Your SCN2A Test Results
Interpreting genetic test results requires careful consideration by qualified healthcare professionals:
Possible Result Interpretations:
- Positive Result: Identification of a known pathogenic variant in the SCN2A gene confirms the genetic diagnosis of benign familial infantile seizures type 3
- Negative Result: Absence of detected mutations suggests other genetic or non-genetic causes for the seizure disorder
- Variant of Uncertain Significance: Identification of genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detection of mutations in asymptomatic individuals indicating potential risk for affected offspring
All results should be discussed with a genetic counselor or neurologist who can provide personalized interpretation and guidance based on clinical context and family history.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications:
- 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
- Specialty: Neurology and Genetics
- Disease Category: Neurological Disorders
Nationwide Testing Availability
We have comprehensive testing facilities 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, and San Jose. Our network of certified genetic testing centers ensures accessible, reliable service regardless of your location.
Book Your SCN2A Genetic Test Today
Take the first step toward understanding your genetic health and obtaining accurate diagnosis for seizure disorders. Our experienced genetic counselors and neurological specialists are ready to guide you through the testing process and provide comprehensive result interpretation.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or discuss your testing needs with our genetic specialists.
Early genetic testing can provide crucial insights for effective management of benign familial infantile seizures and informed family planning decisions. Don’t wait – secure your genetic health information today.
