COL6A1 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic DNA Test
Introduction to the Test
The COL6A1 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the COL6A1 gene that are associated with Ullrich congenital muscular dystrophy. This test utilizes Next Generation Sequencing (NGS) technology, which allows for a comprehensive analysis of the genetic material, providing crucial insights into the underlying causes of muscular dystrophy.
What the Test Measures
This genetic test specifically measures the presence of mutations in the COL6A1 gene. These mutations can lead to a range of symptoms associated with Ullrich congenital muscular dystrophy, which primarily affects muscle function and integrity.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of muscular dystrophy, including:
- Muscle weakness
- Joint hypermobility
- Delayed motor milestones in children
Additionally, family members of individuals diagnosed with Ullrich congenital muscular dystrophy may benefit from testing to assess their own risk or carrier status.
Benefits of Taking the Test
- Accurate diagnosis of Ullrich congenital muscular dystrophy.
- Informed treatment decisions based on genetic predispositions.
- Enhanced understanding of the genetic factors affecting muscle health.
- Ability to provide genetic counseling and support to affected families.
Understanding Your Results
Results from the COL6A1 Gene test will indicate whether a mutation is present. A positive result confirms the presence of a mutation associated with Ullrich congenital muscular dystrophy, while a negative result suggests that no mutation was detected. It is important to discuss results with a healthcare provider for proper interpretation and guidance.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COL6A1 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic DNA Test | 40000 KSh | 56000 KSh |
Booking Information
We have branches across all major cities in Kenya, making it easy for you to access this essential test. Home sample collection services are also available for your convenience. To book the COL6A1 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Take the first step towards understanding your genetic health today!
