COL17A1 Gene Epidermolysis Bullosa Junctional NGS Genetic DNA Test
Introduction to the Test
The COL17A1 Gene Epidermolysis Bullosa Junctional NGS Genetic DNA Test is a specialized diagnostic tool designed to analyze the COL17A1 gene, which plays a critical role in skin integrity. This test is essential for individuals at risk of epidermolysis bullosa (EB), a group of rare genetic disorders characterized by fragile skin that blisters easily. Understanding your genetic predisposition can significantly impact your health management and treatment options.
What the Test Measures
This test specifically detects mutations in the COL17A1 gene, which is responsible for encoding a protein that is crucial for the adhesion of the epidermis to the dermis. By utilizing Next Generation Sequencing (NGS) technology, the test offers a comprehensive evaluation of the gene’s sequence, identifying any pathogenic variants that may lead to junctional epidermolysis bullosa.
Who Should Consider This Test?
Individuals who should consider the COL17A1 Gene Epidermolysis Bullosa Junctional NGS Genetic DNA Test include:
- Those with a family history of epidermolysis bullosa.
- Individuals exhibiting symptoms such as skin fragility, blistering, or unusual skin lesions.
- Patients undergoing genetic counseling for hereditary skin disorders.
Benefits of Taking the Test
Taking the COL17A1 Gene Epidermolysis Bullosa Junctional NGS Genetic DNA Test provides several benefits:
- Early identification of genetic predisposition to epidermolysis bullosa.
- Informed decision-making regarding treatment and management options.
- Access to genetic counseling for affected family members.
- Peace of mind for patients and their families regarding their health.
Understanding Your Results
Once the test is completed, results will be analyzed and interpreted by qualified geneticists. A detailed report will be provided, explaining any identified mutations and their potential implications for your health. It is recommended to discuss these results with a healthcare provider or genetic counselor for a comprehensive understanding and guidance.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COL17A1 Gene Epidermolysis Bullosa Junctional NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the COL17A1 Gene Epidermolysis Bullosa Junctional NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any inquiries and to schedule your appointment.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required along with a genetic counseling session to draw a pedigree chart of family members affected with the COL17A1 gene.
Take control of your health today by booking your test!
