Plec Gene Epidermolysis Bullosa Simplex Ogna Type NGS Genetic DNA Test
Introduction
The Plec Gene Epidermolysis Bullosa Simplex Ogna Type NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the PLEC gene that are associated with epidermolysis bullosa simplex (EBS). EBS is a group of genetic skin disorders characterized by blistering and fragility of the skin. Understanding the genetic basis of this condition is crucial for effective management and treatment.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific mutations in the PLEC gene. By analyzing the DNA, healthcare providers can determine if an individual has a genetic predisposition to EBS, allowing for early intervention and management.
Who Should Consider This Test
Individuals with a family history of epidermolysis bullosa, particularly those exhibiting symptoms such as skin fragility, blistering, and scarring, should consider this test. Additionally, those with risk factors or clinical indications of EBS should seek genetic counseling and testing to understand their genetic risks.
Benefits of Taking the Test
- Provides a definitive diagnosis of epidermolysis bullosa simplex.
- Enables informed decision-making for affected families regarding management and treatment options.
- Facilitates genetic counseling and the development of a personalized care plan.
- Helps identify at-risk family members for early monitoring and intervention.
Understanding Your Results
Results from the Plec Gene Epidermolysis Bullosa Simplex Ogna Type NGS Genetic DNA Test will indicate whether any mutations in the PLEC gene were detected. A positive result confirms the presence of genetic mutations associated with EBS, while a negative result suggests that no mutations were found. It is essential to discuss your results with a healthcare provider for accurate interpretation and guidance on next steps.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| Plec Gene Epidermolysis Bullosa Simplex Ogna Type NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test
To book the Plec Gene Epidermolysis Bullosa Simplex Ogna Type NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with scheduling and any questions you may have regarding the test and its implications.
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 the patient who is going for the test and a genetic counseling session to draw a pedigree chart of family members affected by the PLEC gene.
For further inquiries, feel free to reach out to our specialists in the Genetics department, who are equipped to provide comprehensive support and guidance.
