ST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The ST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the ST3GAL5 gene that cause Amish infantile epilepsy syndrome. This rare genetic disorder primarily affects infants and young children, characterized by severe seizure activity and developmental delays. Our advanced testing methodology provides families and healthcare providers with definitive genetic information crucial for accurate diagnosis and personalized treatment planning.
What Does This Test Measure and Detect?
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the ST3GAL5 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the ST3GAL5 gene
- Genetic variants associated with Amish infantile epilepsy syndrome
- Inheritance patterns of the disorder within families
- Risk assessment for future pregnancies
- Carrier status identification in family members
Who Should Consider This Genetic Test?
This test is recommended for individuals displaying symptoms or having risk factors for Amish infantile epilepsy syndrome, including:
- Infants and children experiencing unexplained seizure activity
- Patients with developmental delays and neurological symptoms
- Individuals of Amish descent with family history of epilepsy
- Families with previous children diagnosed with infantile epilepsy
- Parents planning pregnancy with known family history of neurological disorders
- Patients with suspected genetic epilepsy syndromes unresponsive to conventional treatments
Key Symptoms and Clinical Indicators
Common symptoms that may indicate the need for ST3GAL5 genetic testing include:
- Early-onset seizures in infancy (typically before 6 months)
- Developmental regression or stagnation
- Abnormal muscle tone and movement disorders
- Visual impairment or abnormal eye movements
- Microcephaly or abnormal head growth
- Feeding difficulties and failure to thrive
- Family history of similar neurological conditions
Benefits of ST3GAL5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
Accurate Diagnosis and Treatment Planning
A definitive genetic diagnosis enables healthcare providers to develop targeted treatment strategies specifically tailored to the underlying genetic cause of epilepsy. This precision medicine approach can lead to more effective seizure management and improved quality of life.
Family Planning and Genetic Counseling
Understanding the genetic basis of the condition provides valuable information for family planning decisions. Genetic counselors can accurately assess recurrence risks and discuss reproductive options with affected families.
Early Intervention Opportunities
Early genetic diagnosis allows for prompt intervention and management strategies, potentially improving developmental outcomes and reducing long-term neurological complications.
Research and Clinical Trial Eligibility
A confirmed genetic diagnosis may qualify patients for specialized clinical trials and research studies focused on specific genetic epilepsy syndromes.
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret and understand your test results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic variants in the ST3GAL5 gene associated with Amish infantile epilepsy syndrome. Our genetic counselors will provide detailed explanations about the specific mutation, inheritance patterns, and implications for family members.
Negative Result Considerations
A negative result suggests that no pathogenic variants were detected in the ST3GAL5 gene. However, this does not completely rule out a genetic cause for epilepsy, as other genes may be involved. Additional testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
In some cases, genetic variants of uncertain significance may be identified. Our team provides ongoing monitoring and reclassification services as new research emerges.
Test Pricing and Details
| Test Component | Price (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
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
- Department: Genetics
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving 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 counselors and neurological specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic epilepsy syndromes affect your family’s future. Our ST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and peace of mind.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and test appointment. Our compassionate team is ready to guide you through every step of the testing process, from initial consultation to result interpretation and beyond.
Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Take control of your genetic health journey with our expert neurological genetic testing services.
