Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a rare genetic disorder characterized by fragile skin that easily blisters and pyloric atresia, which is a blockage of the stomach to the intestines. This condition is caused by mutations in the PLEC gene, which plays a crucial role in the integrity and function of skin cells and other tissues. Understanding the symptoms of this genetic condition is essential for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, aiding in the accurate diagnosis and potential treatment strategies for affected individuals.
Symptoms of PLEC Gene Epidermolysis Bullosa Simplex with Pyloric Atresia
Individuals with EBS-PA typically present with a range of symptoms that can be identified from birth or early infancy. These symptoms include, but are not limited to:
- Blistering of the Skin: One of the hallmark symptoms of EBS-PA is the appearance of blisters on the skin. These blisters can occur anywhere on the body but are most commonly found on the hands, feet, arms, and legs. The blistering can be triggered by minor injuries, heat, or friction.
- Pyloric Atresia: Pyloric atresia is a condition where the passage from the stomach to the small intestine is blocked. This can lead to severe feeding difficulties, vomiting, and inadequate nutrition.
- Nail Dystrophy: Some individuals may experience abnormalities in nail growth, leading to thickened, discolored, or absent nails.
- Anemia: Chronic anemia can occur due to repeated skin damage and blood loss from blistering areas.
- Difficulty Swallowing: In some cases, blistering can affect the mucous membranes, including those in the mouth and esophagus, leading to painful swallowing and feeding difficulties.
It is crucial for parents and caregivers to be aware of these symptoms, as early intervention can significantly improve the quality of life for individuals with EBS-PA.
Genetic Test for EBS-PA at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for the PLEC gene, which can confirm the diagnosis of Epidermolysis bullosa simplex with pyloric atresia. This test is particularly important for families with a history of the condition or those who have a child presenting with symptoms consistent with EBS-PA. The genetic test involves a simple blood draw or buccal swab from the affected individual. The sample is then analyzed to identify mutations in the PLEC gene that are responsible for the condition.
The cost of the PLEC gene epidermolysis bullosa simplex with pyloric atresia genetic test at DNA Labs UAE is 4400 AED. While the cost may seem high, it is a crucial step towards getting a definitive diagnosis, which can guide treatment and management strategies. Early genetic testing can also provide valuable information for family planning and the assessment of risk in future pregnancies.
For more information about the PLEC gene epidermolysis bullosa simplex with pyloric atresia genetic test, please visit DNA Labs UAE.
Understanding the symptoms and undergoing genetic testing for EBS-PA are vital steps in managing this challenging condition. With the support of specialized healthcare providers and access to accurate genetic testing, individuals with EBS-PA and their families can navigate the complexities of this condition with informed confidence.
