EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test
Introduction
The EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test is a vital diagnostic tool for identifying Lafora disease, a rare and debilitating neurological disorder characterized by myoclonic seizures and progressive neurological decline. This genetic test employs Next-Generation Sequencing (NGS) technology to detect mutations in the EPM2A gene, which are responsible for this condition. Early diagnosis is crucial as it allows for better management and understanding of the disease, ultimately improving the quality of life for affected individuals.
What the Test Measures
This test specifically measures mutations in the EPM2A gene, which are linked to Lafora disease. By analyzing the genetic material from blood or extracted DNA, the test can identify specific genetic alterations that may indicate the presence of this disorder.
Who Should Consider This Test?
Individuals who experience:
- Myoclonic seizures
- Progressive neurological symptoms
- A family history of Lafora disease or related neurological disorders
should consider this test. Additionally, genetic counseling is recommended to understand the implications of the results and to create a pedigree chart of affected family members.
Benefits of Taking the Test
- Accurate diagnosis of Lafora disease.
- Informed decision-making regarding treatment options.
- Understanding of familial risks and implications for family planning.
- Access to support resources for affected individuals and families.
Understanding Your Results
Once the testing is complete, results will be available within 3 to 4 weeks. A healthcare professional, preferably a neurologist, will guide you through the results, explaining the implications and potential next steps based on the findings.
Test Pricing
Price Type | Amount (KSh) |
---|---|
Discount Price | 40,000 |
Regular Price | 56,000 |
Book Your Test Today!
We have branches across all major cities in Kenya, making it convenient for you to access our services. To book the EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.