COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 NGS Genetic DNA Test
The COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 NGS Genetic DNA Test is a specialized genetic test designed to detect mutations in the COL12A1 gene, which is associated with Ullrich congenital muscular dystrophy type 2. This condition primarily affects muscle function and strength, leading to significant mobility challenges. Early diagnosis is crucial for effective management and intervention.
What the Test Measures
This genetic test uses Next Generation Sequencing (NGS) technology to analyze the COL12A1 gene. By identifying specific mutations, healthcare providers can confirm a diagnosis of Ullrich congenital muscular dystrophy type 2, enabling tailored treatment plans.
Who Should Consider This Test
This test is recommended for individuals showing symptoms of muscular dystrophy, such as:
- Muscle weakness
- Delayed motor milestones in children
- Joint contractures
- Progressive muscle degeneration
Additionally, family members of affected individuals may consider testing to understand their genetic risks.
Benefits of Taking the Test
- Accurate diagnosis of Ullrich congenital muscular dystrophy type 2
- Informed decisions regarding treatment and management
- Guidance for family planning and genetic counseling
- Access to support resources and clinical trials
Understanding Your Results
Results will be available within 3 to 4 weeks. A genetic counselor will help interpret the findings, providing insights into the implications of the results and discussing potential next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu. We also offer home sample collection services for your convenience. To book the COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 NGS Genetic DNA Test, please call or WhatsApp us at +254713408028.
Don’t wait for symptoms to worsen—take proactive steps towards understanding your health today!
