Epidermolysis Bullosa Dystrophica (EBD) is a rare genetic disorder that affects the skin and sometimes the mucous membranes. The condition is characterized by the presence of fragile skin that blisters and tears from minor friction or trauma. This condition is primarily caused by mutations in the COL7A1 gene, which plays a crucial role in the formation of collagen, a protein that provides strength and resilience to the skin. Recognizing the symptoms of this condition is vital for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the COL7A1 gene to help identify mutations associated with Epidermolysis Bullosa Dystrophica. This test is an essential tool for families seeking answers about this challenging condition.
Symptoms of Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica presents a range of symptoms that can vary significantly in severity from one individual to another. The most common signs include:
- Blistering of the skin following minor injuries, heat, or even changes in temperature.
- Wounds that heal slowly, often leading to scarring and the formation of milia (tiny white bumps).
- Thickening of the skin on the palms and soles of the feet (hyperkeratosis).
- Nail dystrophy or loss of nails due to repeated trauma.
- Internal complications may occur, such as difficulty swallowing (dysphagia) when blisters affect the esophagus.
- Dental issues, including tooth decay and loss, due to enamel defects and blisters forming in the mouth.
- In severe cases, fusion of fingers or toes (pseudosyndactyly) can occur, limiting hand and foot mobility.
Early diagnosis and management are crucial in improving the quality of life for individuals with Epidermolysis Bullosa Dystrophica. The genetic test offered by DNA Labs UAE is a significant step forward in diagnosing this condition accurately.
COL7A1 Gene Epidermolysis Bullosa Dystrophica Genetic Test
The COL7A1 gene test is a sophisticated diagnostic tool that examines the DNA for mutations in the COL7A1 gene. These mutations are responsible for the majority of cases of Epidermolysis Bullosa Dystrophica. By identifying the specific mutation, healthcare providers can offer more targeted management and support to patients and their families. The test involves a simple blood sample from the patient, which is then analyzed using advanced genetic sequencing techniques.
Test Cost
The cost of the COL7A1 Gene Epidermolysis Bullosa Dystrophica Genetic Test is 4400 AED. This price includes the full analysis and a comprehensive report that explains the findings in detail. While the cost may seem high, the value it provides in terms of accurate diagnosis and the guidance it offers for treatment and management decisions is invaluable.
Conclusion
Epidermolysis Bullosa Dystrophica is a challenging condition, but with advancements in genetic testing, there is hope for better management and understanding of this disorder. The COL7A1 gene test offered by DNA Labs UAE is a crucial tool in the fight against Epidermolysis Bullosa Dystrophica. For more information about the test and how to proceed with testing, visit DNA Labs UAE.
