MERRF Myoclonic Epilepsy Associated With Ragged Red Fibres Mutation Detection Test
Introduction
The MERRF Myoclonic Epilepsy Associated With Ragged Red Fibres Mutation Detection Test is a crucial diagnostic tool for identifying mutations associated with Myoclonic Epilepsy with Ragged Red Fibres (MERRF) syndrome. This genetic disorder primarily affects the nervous system, leading to a range of neurological symptoms. Understanding the presence of these mutations can significantly impact patient management and treatment.
What the Test Measures
This test detects specific mutations in mitochondrial DNA that are linked to MERRF syndrome. By identifying these genetic alterations, healthcare providers can confirm a diagnosis and tailor treatment plans accordingly.
Who Should Consider This Test
Individuals experiencing symptoms such as myoclonic seizures, ataxia, or muscle weakness should consider this test. Additionally, those with a family history of MERRF syndrome or related mitochondrial disorders are encouraged to seek testing. Risk factors include a history of neurological disorders or unexplained muscle symptoms.
Benefits of Taking the Test
- Accurate diagnosis of MERRF syndrome.
- Informed decision-making regarding treatment options.
- Genetic counseling for affected individuals and their families.
- Early intervention strategies to manage symptoms and improve quality of life.
Understanding Your Results
Results from the MERRF Myoclonic Epilepsy Associated With Ragged Red Fibres Mutation Detection Test will indicate the presence or absence of specific mutations. A positive result confirms the diagnosis, while a negative result may prompt further investigation into other potential causes of symptoms. It is essential to discuss results with a healthcare provider to understand their implications fully.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 32,000 |
| Regular Price | 50,000 |
Sample Collection and Instructions
Sample collection requires 4 mL (2 mL min.) of whole blood in a Lavender top (EDTA) tube. It is crucial to ship the sample refrigerated and not to freeze it. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for processing.
Test Availability
We have branches across all major cities in Kenya, ensuring accessibility for all patients. For your convenience, we also offer home sample collection services.
Book Your Test Today!
Don’t wait to understand your health better. Book the MERRF Myoclonic Epilepsy Associated With Ragged Red Fibres Mutation Detection Test today by calling or WhatsApping us at +254711564616.
