Epidermolysis bullosa simplex (EBS) is a group of rare genetic conditions characterized by fragile skin that easily blisters and tears from minor friction or trauma. Specifically, the KRT14 gene epidermolysis bullosa simplex autosomal recessive type 1 is a severe form of the disease caused by mutations in the KRT14 gene. This condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
The symptoms of KRT14 gene epidermolysis bullosa simplex autosomal recessive type 1 can vary in severity but generally include widespread blistering that appears shortly after birth. These blisters can form anywhere on the body but are most common on the hands, feet, knees, and elbows. In addition to skin blistering, individuals with this condition may experience nail abnormalities, such as thickening or loss of nails, and milia, which are small white bumps or cysts that appear on the skin. The repeated blistering and scarring can lead to skin thickening and the development of calluses on the palms of the hands and soles of the feet.
Due to the severity and impact of these symptoms on quality of life, accurate diagnosis through genetic testing is crucial. DNA Labs UAE offers a specialized genetic test for the KRT14 gene epidermolysis bullosa simplex autosomal recessive type 1. This test is designed to detect mutations in the KRT14 gene, confirming a diagnosis and enabling families to understand the inheritance pattern and risks for future children.
The cost of the KRT14 gene epidermolysis bullosa simplex autosomal recessive type 1 genetic test at DNA Labs UAE is 4400 AED. This investment includes the full genetic analysis and a comprehensive report, which provides detailed information about the specific mutation(s) identified and guidance for managing the condition.
For families and individuals considering this genetic test, it’s important to consult with a healthcare professional or genetic counselor. These experts can provide valuable insights into the testing process, interpret the results, and discuss potential next steps in management or treatment. Early diagnosis through genetic testing can significantly impact the care and quality of life for those affected by this condition.
For more information about the KRT14 gene epidermolysis bullosa simplex autosomal recessive type 1 genetic test and to schedule a consultation, please visit DNA Labs UAE.
Understanding and managing genetic conditions like KRT14 gene epidermolysis bullosa simplex autosomal recessive type 1 requires comprehensive care and support. DNA Labs UAE is committed to providing accurate genetic testing and resources to help individuals and families navigate these challenges. With the right information and support, affected individuals can lead fuller, healthier lives.
Symptoms of KRT14 Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 1
- Widespread blistering that appears shortly after birth
- Blisters on hands, feet, knees, and elbows
- Nail abnormalities, including thickening or loss
- Milia, or small white bumps/cysts on the skin
- Skin thickening and callus formation on palms and soles due to repeated blistering and scarring
Genetic Testing for KRT14 Gene Mutation
Offered at DNA Labs UAE for 4400 AED, this test is essential for confirming the diagnosis and understanding the inheritance pattern.
Consultation and Support
Consulting with healthcare professionals or genetic counselors before and after testing is crucial for comprehensive care.
For More Information
Visit https://dnalabsuae.com for details about the genetic test and to schedule a consultation.
