COL1A2 Gene Ehlers-Danlos Syndrome Type 7B NGS Genetic DNA Test
Introduction
The COL1A2 Gene Ehlers-Danlos Syndrome Type 7B NGS Genetic DNA Test is an advanced diagnostic test designed to identify mutations in the COL1A2 gene that are responsible for Ehlers-Danlos syndrome type 7B. This syndrome is a connective tissue disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Early diagnosis is crucial for managing symptoms and preventing complications.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to analyze the COL1A2 gene, which plays a significant role in collagen formation. By detecting mutations in this gene, the test helps in confirming or ruling out Ehlers-Danlos syndrome type 7B.
Who Should Consider This Test
Individuals who exhibit symptoms associated with Ehlers-Danlos syndrome, such as:
- Skin that is easily bruised or hyperelastic
- Joint pain or dislocations
- Family history of Ehlers-Danlos syndrome
- Unexplained complications related to connective tissue
This test is also recommended for those who have a family member diagnosed with the syndrome, as a genetic counseling session will help draw a pedigree chart of affected relatives.
Benefits of Taking the Test
- Early and accurate diagnosis of Ehlers-Danlos syndrome type 7B.
- Informed decision-making regarding management and treatment options.
- Understanding genetic risks for family members.
- Access to specialized care from dermatologists and geneticists.
Understanding Your Results
Results from the COL1A2 Gene Ehlers-Danlos Syndrome Type 7B NGS Genetic DNA Test will provide insights into the presence of mutations in the COL1A2 gene. A genetic counselor will assist in interpreting the results, discussing implications for treatment, and advising on family planning options.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COL1A2 Gene Ehlers-Danlos Syndrome Type 7B NGS Genetic DNA Test | 40000 KSh | 56000 KSh |
Branches and Booking
We have branches across all major cities in Kenya, making it convenient for you to access our services. We also offer home sample collection services for your convenience. To book the COL1A2 Gene Ehlers-Danlos Syndrome Type 7B NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
