COL6A2 Gene Bethlem Myopathy NGS Genetic DNA Test
Introduction to the Test
The COL6A2 Gene Bethlem Myopathy NGS Genetic DNA Test is a specialized genetic test designed to detect mutations in the COL6A2 gene, which are associated with Bethlem myopathy, a rare neuromuscular disorder. This test is critical for individuals with symptoms suggestive of this condition, as it provides essential insights into the genetic underpinnings of their health issues.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the COL6A2 gene. It detects specific mutations that may lead to the development of Bethlem myopathy, allowing for a more accurate diagnosis compared to traditional methods.
Who Should Consider This Test?
Individuals experiencing symptoms such as muscle weakness, joint contractures, or a family history of neuromuscular disorders should consider this test. Risk factors include:
- Family history of Bethlem myopathy or related disorders
- Presence of muscle weakness or contractures
- Unexplained neurological symptoms
Benefits of Taking the Test
Taking the COL6A2 Gene Bethlem Myopathy NGS Genetic DNA Test offers several benefits, including:
- Accurate diagnosis of genetic conditions
- Guidance for treatment options and management
- Informed family planning decisions
- Access to genetic counseling and support
Understanding Your Results
Results from the COL6A2 Gene Bethlem Myopathy NGS Genetic DNA Test will be interpreted by specialists in genetics and neurology. A positive result indicates a mutation in the COL6A2 gene, confirming a diagnosis of Bethlem myopathy. Negative results may still warrant further investigation based on clinical symptoms.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COL6A2 Gene Bethlem Myopathy NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card. The typical turnaround time for results is approximately 3 to 4 weeks.
Pre-Test Instructions
Before undergoing the COL6A2 Gene Bethlem Myopathy NGS Genetic DNA Test, patients should have a clinical history reviewed and consider a genetic counseling session. This will help in drawing a pedigree chart of family members affected by Bethlem myopathy.
Book Your Test Today
At DNA Labs Kenya, we have branches across major cities and offer a home sample collection service for your convenience. Don’t wait to understand your genetic health. Book the COL6A2 Gene Bethlem Myopathy NGS Genetic DNA Test today! For appointments, call or WhatsApp us at +254711564616.
