KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic DNA Test
Introduction
The KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a crucial role in identifying genetic mutations associated with epidermolysis bullosa simplex (EBS). EBS is a rare genetic skin disorder characterized by fragile skin that blisters and tears easily. This test utilizes Next Generation Sequencing (NGS) technology to analyze the KRT5 gene, which is essential for skin integrity.
What the Test Measures
This genetic test specifically detects mutations in the KRT5 gene. By analyzing the DNA, it provides insights into the genetic factors that may contribute to the development of EBS. Accurate detection of these mutations allows for informed clinical decisions and personalized management plans.
Who Should Consider This Test
Individuals experiencing symptoms such as:
- Frequent skin blisters and tears
- Widespread skin fragility
- Family history of epidermolysis bullosa
Additionally, those with risk factors or a clinical history suggestive of EBS should consider this test. Genetic counseling is recommended prior to testing for a comprehensive understanding of the implications.
Benefits of Taking the Test
- Identification of genetic mutations for accurate diagnosis.
- Guidance for potential treatment options and management strategies.
- Informed family planning and understanding of inheritance patterns.
- Access to targeted therapies and support resources.
Understanding Your Results
Results from the KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A genetic counselor will help interpret the results, explaining the implications for health management and family considerations.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To take the first step towards understanding your genetic health, book the KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic DNA Test today. Contact us at +2348077798758 via call or WhatsApp for more information and to schedule your appointment.
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions
It is essential to provide a comprehensive clinical history before the test. A genetic counseling session will also be conducted to draw a pedigree chart of family members affected by the KRT5 gene.
Specialty and Department
This test falls under the specialty of Dermatology and the department of Genetics, focusing on Osteology, Dermatology, and Immunology Disorders.