COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test
Introduction
The COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test is a specialized diagnostic tool designed to detect mutations in the COL7A1 gene, which are responsible for Epidermolysis Bullosa Dystrophica (EBD). This condition is characterized by extreme skin fragility, leading to blistering and wounds from minor trauma. Understanding the genetic basis of EBD is crucial for effective management and treatment of affected individuals.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the COL7A1 gene. It identifies specific mutations that may contribute to the development of EBD, providing essential information for diagnosis and potential treatment pathways.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Severe skin blistering
- Skin fragility
- Family history of Epidermolysis Bullosa
should consider this test. Additionally, those at risk due to family genetics may also benefit from this diagnostic evaluation.
Benefits of Taking the Test
- Accurate diagnosis of Epidermolysis Bullosa Dystrophica
- Informed treatment options and management plans
- Genetic counseling for family planning
- Understanding potential risks for family members
Understanding Your Results
Results from the COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test will provide insights into the presence of mutations. A genetic counselor will assist in interpreting these results, discussing implications for treatment, and advising on family history considerations.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book Your Test Today!
To book the COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and any questions you may have.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: Clinical History of Patient who is going for COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test gene COL7A1.
For more information, consult with your dermatologist or genetic specialist.
