COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test
Introduction to the Test
The COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test is a state-of-the-art diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to analyze the COL7A1 gene. This gene is crucial in the formation of collagen type VII, which provides structural support to the skin. Mutations in this gene can lead to Epidermolysis Bullosa Dystrophica (EBD), a severe skin disorder characterized by extreme fragility of the skin and mucous membranes.
What the Test Measures
This genetic test measures specific mutations in the COL7A1 gene that are known to cause EBD. By identifying these mutations, healthcare providers can offer a more accurate diagnosis and tailored treatment options for affected individuals.
Who Should Consider This Test?
This test is recommended for:
- Individuals with a family history of Epidermolysis Bullosa.
- Patients exhibiting symptoms such as blistering skin, particularly after minor trauma.
- Those considering genetic counseling or family planning.
Benefits of Taking the Test
The benefits of the COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test include:
- Accurate diagnosis of EBD, allowing for appropriate medical care.
- Informed family planning decisions for individuals with a family history.
- Access to targeted therapies and management strategies.
- Peace of mind through understanding genetic risks.
Understanding Your Results
Results from the COL7A1 gene test will indicate whether mutations are present. These results can help guide treatment options and management strategies. It is essential to discuss your results with a healthcare provider or genetic counselor for a comprehensive understanding.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
This test can be performed using:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
The turnaround time for results is approximately 3 to 4 weeks.
Pre-Test Instructions
Before undergoing the COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test, patients should:
- Provide a detailed clinical history.
- Participate in a genetic counseling session to draw a pedigree chart of family members affected by EBD.
Book Your Test Today!
At DNA Labs Kenya, we have branches across major cities including Nairobi, Mombasa, and Kisumu. Our team is ready to assist you with the COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test. To book your test, please call or WhatsApp us at +254711564616.
