SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 NGS Genetic DNA Test
Understanding SLC13A5-Related Epileptic Encephalopathy
Early Infantile Epileptic Encephalopathy Type 25 (EIEE25) represents a severe neurological disorder characterized by treatment-resistant seizures that typically manifest within the first few months of life. This condition is directly linked to mutations in the SLC13A5 gene, which encodes a sodium-coupled citrate transporter crucial for brain development and function. The SLC13A5 Gene NGS Genetic DNA Test provides a comprehensive analysis to identify these genetic abnormalities, offering critical insights for diagnosis and management of this challenging condition.
What Does This Test Measure?
This advanced genetic test specifically targets the SLC13A5 gene using Next-Generation Sequencing (NGS) technology to detect:
- Pathogenic variants and mutations in the SLC13A5 gene
- Single nucleotide polymorphisms (SNPs) associated with epileptic encephalopathy
- Copy number variations affecting gene function
- Inheritance patterns of the condition
- Specific genetic markers linked to treatment response
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for infants and children presenting with:
- Seizure onset within the first 3 months of life
- Treatment-resistant epilepsy unresponsive to conventional medications
- Developmental regression or delayed milestones
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological disorders
- Progressive neurological deterioration despite treatment
- Muscle tone abnormalities and movement disorders
Comprehensive Benefits of SLC13A5 Genetic Testing
Early Intervention and Management
Undergoing the SLC13A5 Gene Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of epileptic encephalopathy
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Genetic Counseling: Provides families with recurrence risk information and family planning guidance
- Prognostic Information: Helps predict disease progression and potential complications
- Clinical Trial Eligibility: Opens opportunities for participation in specialized treatment studies
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
Understanding Your Test Results
Interpretation and Next Steps
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic SLC13A5 mutations, confirming the diagnosis of EIEE25
- Negative Result: Suggests that SLC13A5 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Requires additional family studies and ongoing research correlation
- Carrier Status: Provides information about inheritance patterns and recurrence risks
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Test Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take the Next Step Toward Diagnosis
Early genetic diagnosis can significantly impact treatment outcomes and quality of life for children with epileptic encephalopathy. Our team of genetic specialists and neurologists is ready to provide comprehensive testing and support throughout your diagnostic journey.
Book your SLC13A5 Gene Test today or call our genetic counseling hotline at +1(267) 388-9828 to schedule your consultation and learn more about how this advanced genetic testing can help your family.
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled to create a detailed family pedigree
- Documentation of previous neurological evaluations and test results
- Insurance information and physician referral if required
