COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic DNA Test
Introduction
The COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic DNA Test is a specialized diagnostic tool designed to identify mutations in the COL6A3 gene associated with Bethlem Myopathy, a rare genetic disorder that affects muscle strength and function. This test is performed using Next Generation Sequencing (NGS) technology, allowing for comprehensive analysis of genetic material.
What the Test Measures
This genetic test specifically measures alterations in the COL6A3 gene, which plays a crucial role in the structure and function of collagen VI. Mutations in this gene can lead to muscle weakness and other related symptoms.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Muscle weakness
- Joint contractures
- Progressive muscle deterioration
Additionally, those with a family history of Bethlem Myopathy or other related neurological disorders may also be advised to undergo this test.
Benefits of Taking the Test
Taking the COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of Bethlem Myopathy
- Informed family planning and genetic counseling
- Personalized treatment options based on genetic findings
- Peace of mind for patients and their families
Understanding Your Results
Results from the COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic DNA Test will provide insights into the presence of mutations in the COL6A3 gene. A genetic counselor will assist in interpreting these results and discussing potential implications for treatment and family members.
Test Name and Price
Test Name | Discount Price | Regular Price |
---|---|---|
COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history and a genetic counseling session to create a pedigree chart of affected family members is essential.
Branches Across Kenya
DNA Labs Kenya has branches in all major cities and offers home sample collection services for your convenience. For more information or to book your test, please call or WhatsApp us at +254711564616.
Book Your Test Today!
Don’t wait any longer to get the answers you need. Book the COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic DNA Test today and take a proactive step towards understanding your health.