NHLRC1 Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test
Introduction
The NHLRC1 Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test is a vital diagnostic tool designed to identify genetic mutations associated with myoclonic epilepsy of Lafora, a rare and severe neurological disorder. This condition typically manifests during adolescence or early adulthood and is characterized by progressive myoclonic seizures, cognitive decline, and premature death. Understanding the genetic basis of this disorder is crucial for effective management and counseling of affected individuals and their families.
What the Test Measures
This genetic test specifically analyzes the NHLRC1 gene using Next Generation Sequencing (NGS) technology. It detects mutations that may lead to myoclonic epilepsy of Lafora, allowing healthcare providers to better understand the underlying causes of the condition.
Who Should Consider This Test
Individuals who experience:
- Myoclonic seizures
- Progressive cognitive decline
- Family history of myoclonic epilepsy of Lafora
are encouraged to consider this test. Additionally, those with risk factors such as a known family history of the disorder should also seek testing for a more accurate diagnosis.
Benefits of Taking the Test
- Provides clarity on the genetic basis of the condition.
- Facilitates informed decision-making regarding treatment options.
- Enables genetic counseling for affected families.
- Aids in the development of personalized management plans.
Understanding Your Results
Once the test is completed, results will be interpreted by a qualified healthcare professional. Understanding the results can help in determining the next steps for management and treatment. It is essential to have a follow-up consultation to discuss the implications of the findings.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| NHLRC1 Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
The turnaround time for this test is approximately 3 to 4 weeks. We accept samples of blood or extracted DNA, and we also allow one drop of blood on an FTA card. Prior to testing, it is recommended to have a genetic counseling session to draw a pedigree chart of family members affected by the NHLRC1 gene mutation.
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 NHLRC1 Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Take the first step towards understanding your health today!
