RYR1 Gene Minicore Myopathy with External Ophthalmoplegia NGS Genetic DNA Test
Introduction to the Test
The RYR1 Gene Minicore Myopathy with External Ophthalmoplegia NGS Genetic DNA Test is a revolutionary diagnostic tool designed to identify genetic mutations associated with specific neurological disorders. Utilizing Next-Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the RYR1 gene, which plays a crucial role in muscle function and eye movement. Understanding these genetic factors is essential for accurate diagnosis and management of related conditions.
What the Test Measures
This genetic test specifically measures mutations in the RYR1 gene, which are linked to conditions such as minicore myopathy and external ophthalmoplegia. By detecting these mutations, healthcare providers can better understand the underlying causes of muscle weakness and eye movement abnormalities.
Who Should Consider This Test
Individuals experiencing symptoms such as:
- Muscle weakness or fatigue
- Difficulty with eye movements
- Family history of muscle disorders
Patients with risk factors for RYR1-related conditions should consider this test. Consulting with a neurologist or genetic counselor can help determine if this test is appropriate based on clinical history.
Benefits of Taking the Test
- Accurate diagnosis of genetic disorders
- Informed treatment options and management strategies
- Understanding familial risk and implications for family members
- Access to specialized care and support services
Understanding Your Results
Results from the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia NGS Genetic DNA Test will provide insights into the presence of genetic mutations. It is essential to discuss these results with a healthcare provider to understand their implications and the next steps in management.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Sample Type and Turnaround Time
The sample required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
The turnaround time for results is approximately 3 to 4 weeks.
Pre-Test Instructions
Before undergoing the test, patients should have a genetic counseling session to discuss their clinical history and draw a pedigree chart of family members affected by RYR1 Gene Minicore Myopathy with External Ophthalmoplegia.
Branches and Booking
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. To book the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Take the first step towards understanding your health today!
