SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Neurological Disorders
The SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic screening targets mutations in the SPTAN1 gene, which encodes alpha-II spectrin, a crucial structural protein essential for maintaining neuronal integrity and proper brain development. Early infantile epileptic encephalopathy type 5 is a severe neurological condition characterized by treatment-resistant seizures, developmental regression, and significant cognitive impairment that typically manifests within the first months of life.
What Does This Test Measure?
This sophisticated genetic analysis employs next-generation sequencing (NGS) technology to comprehensively examine the SPTAN1 gene for pathogenic variants. The test specifically detects:
- Point mutations and single nucleotide variants affecting gene function
- Small insertions and deletions that disrupt protein structure
- Copy number variations impacting gene dosage
- Structural rearrangements affecting spectrin protein formation
- De novo mutations that may not be present in parental DNA
Who Should Consider This Test?
This specialized genetic test is recommended for infants and young children presenting with specific clinical features, including:
- Early-onset seizures within the first 6 months of life
- Developmental regression or stagnation
- Hypotonia (reduced muscle tone) progressing to spasticity
- Microcephaly or abnormal head growth patterns
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological conditions
- Unexplained developmental delays with seizure activity
Clinical Benefits of Genetic Testing
Undergoing the SPTAN1 gene test provides numerous advantages for affected families and healthcare providers:
- Accurate Diagnosis: Confirms or rules out SPTAN1-related disorders with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Prognostic Information: Provides insights into disease progression and expected outcomes
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Clinical Trial Eligibility: May qualify patients for specialized treatment protocols
- Early Intervention: Facilitates timely implementation of supportive therapies
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results with clarity and compassion:
- Positive Result: Indicates the presence of a pathogenic SPTAN1 mutation, confirming the diagnosis of early infantile epileptic encephalopathy type 5
- Negative Result: Suggests that SPTAN1 mutations are not the cause of the clinical symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical impact requires additional research and family studies
- Carrier Status: May reveal important information about inheritance patterns and recurrence risks
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 NGS Genetic DNA Test | $700 USD | $500 USD |
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 more. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Answers
If your child is experiencing symptoms suggestive of early infantile epileptic encephalopathy, don’t delay in seeking definitive answers. Our specialized genetic testing provides the clarity needed to guide appropriate medical management and support services. Contact our genetic counseling team today to schedule your appointment and begin the journey toward understanding your child’s neurological condition.
Call or WhatsApp our genetic specialists today at +1(267) 388-9828 to book your SPTAN1 genetic test and take the first step toward accurate diagnosis and personalized care.
