Introduction

Epidermolysis bullosa junctionalis with pyloric atresia (EB-PA) is a rare genetic disorder characterized by skin blistering and obstruction of the digestive tract. It is caused by mutations in the ITGB4 gene, which provides instructions for making a protein called integrin beta-4. This protein is important for the adhesion of skin cells and the formation of the digestive tract.

At DNA Labs India, we offer a Next-Generation Sequencing (NGS) Genetic DNA Test for ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia. This test can help diagnose the condition and provide information about the specific genetic mutations involved.

Symptoms

The symptoms of EB-PA usually appear at birth or in the first few weeks of life. The most common symptoms include:

• Blistering and erosion of the skin, particularly in areas of friction or trauma
• Poor weight gain and feeding difficulties due to pyloric atresia
• Scarring and contractures of the skin
• Nail dystrophy and hair loss
• Eye and oral involvement

EB-PA can range from mild to severe, with some cases being fatal in infancy.

Diagnosis

Diagnosis of EB-PA involves a physical examination and a skin biopsy for analysis. Genetic testing can also be used to confirm the diagnosis and identify the specific mutations in the ITGB4 gene.

Our NGS Genetic DNA Test for ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia can provide a comprehensive analysis of the gene, including identification of known mutations and the potential for identifying new mutations.

NGS Genetic DNA Test Cost

The cost of our NGS Genetic DNA Test for ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia is INR 20000.