EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test
Comprehensive Genetic Analysis for Lafora Disease
The EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations responsible for Lafora disease. This progressive myoclonic epilepsy disorder typically manifests in adolescence and follows an aggressive clinical course, making early and accurate diagnosis crucial for effective management and family planning.
What This Advanced Genetic Test Measures
Our state-of-the-art NGS technology comprehensively analyzes the EPM2A gene, which encodes laforin, a protein essential for glycogen metabolism. The test specifically detects:
- Point mutations and small insertions/deletions in the EPM2A gene
- Pathogenic variants associated with Lafora body formation
- Genetic markers linked to progressive myoclonic epilepsy onset
- Inheritance patterns for family genetic counseling
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Progressive myoclonic seizures beginning in adolescence
- Visual hallucinations or occipital lobe seizures
- Rapid cognitive decline following seizure onset
- Family history of Lafora disease or unexplained neurological disorders
- Unexplained ataxia or dementia in young patients
- Abnormal EEG patterns suggestive of progressive myoclonic epilepsy
Significant Benefits of Genetic Testing
Undergoing the EPM2A genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms Lafora disease versus other myoclonic epilepsies
- Treatment Guidance: Informs appropriate antiepileptic medication selection
- Genetic Counseling: Enables informed family planning decisions
- Prognostic Information: Helps anticipate disease progression timeline
- Research Opportunities: Connects patients with clinical trials and emerging therapies
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of pathogenic EPM2A mutation, confirming Lafora disease diagnosis
- Negative Result: Suggests alternative diagnoses should be considered for symptoms
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and reproductive planning
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Accessibility
We have diagnostic centers conveniently located throughout the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients across the country.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms delay your path to accurate diagnosis. Our EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test provides the clarity needed for effective treatment planning and family guidance. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential neurological genetic test. Our expert team is ready to guide you through the testing process and help you understand your results for better health outcomes.
