COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic DNA Test
Introduction to the Test
The COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic DNA Test is an advanced diagnostic tool designed to detect mutations in the COL6A2 gene, which are responsible for Ullrich congenital muscular dystrophy (UCMD). This condition is characterized by muscle weakness and joint laxity, significantly impacting the quality of life. Early detection through genetic testing is essential for effective management and intervention.
What the Test Measures
This test specifically measures the presence of mutations in the COL6A2 gene. By analyzing the genetic material, healthcare providers can confirm a diagnosis of Ullrich congenital muscular dystrophy, allowing for better understanding and management of the condition.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Patients with symptoms of muscle weakness and joint laxity.
- Individuals with a family history of Ullrich congenital muscular dystrophy.
- Those who have undergone clinical assessments suggesting a possible diagnosis of UCMD.
Benefits of Taking the Test
Taking the COL6A2 Gene test offers numerous benefits:
- Accurate diagnosis of Ullrich congenital muscular dystrophy.
- Informed decisions regarding treatment and management options.
- Enhanced understanding of the genetic risks within families.
- Access to genetic counseling for affected family members.
Understanding Your Results
Results from the COL6A2 Gene test will be provided within 3 to 4 weeks. A positive result indicates the presence of a mutation linked to UCMD, while a negative result suggests that no such mutation was detected. It is crucial to discuss these results with a healthcare professional, who can provide guidance on the next steps and implications for family members.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic DNA Test | KSh 40,000 | KSh 56,000 |
Convenient Locations and Booking
We have branches across major cities in Kenya, providing easy access to this essential test. For your convenience, we also offer home sample collection services. To book the COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic DNA Test, please contact us at +254711564616 via call or WhatsApp.