Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLEC gene for Epidermolysis bullosa simplex with pyloric atresia

PreTest Information

Clinical History of Patient who is going for PLEC Gene Epidermolysis bullosa simplex with pyloric atresia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PLEC Gene Epidermolysis bullosa simplex with pyloric atresia NGS Genetic DNA Test gene PLEC

Detail Description

PLEC Gene Epidermolysis bullosa simplex with pyloric atresia NGS Genetic DNA Test

Epidermolysis bullosa simplex (EBS) with pyloric atresia (PA) is a rare genetic condition that affects the skin and digestive system. It is caused by a mutation in the PLEC gene, which provides instructions for making a protein called plectin. Plectin helps to maintain the strength and stability of cells in the skin and digestive tract. When the PLEC gene is mutated, plectin is not produced correctly, leading to the signs and symptoms of EBS with PA.

Symptoms of EBS with PA

The symptoms of EBS with PA can vary depending on the severity of the condition. In some cases, symptoms may be present at birth, while in others, they may not appear until later in life. The most common symptoms of EBS with PA include:

• Blisters on the skin
• Painful sores and wounds
• Difficulty swallowing
• Vomiting
• Poor weight gain

These symptoms are caused by the fragile skin and weakened digestive tract that result from the mutation in the PLEC gene.

Diagnosis of EBS with PA

EBS with PA is diagnosed through a combination of clinical examination, family history, and genetic testing. Doctors will examine the skin and digestive tract for signs of the condition and may take a biopsy of the skin for further analysis. Genetic testing can confirm the presence of a mutation in the PLEC gene.

NGS Genetic DNA Test

NGS (Next Generation Sequencing) Genetic DNA Test is a powerful tool that can be used to identify mutations in the PLEC gene. This test uses advanced technology to sequence the entire gene, allowing for a comprehensive analysis of any genetic changes that may be present. The NGS Genetic DNA Test is a non-invasive procedure that can be performed using a simple blood sample.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA Test for EBS with PA in India is approximately INR 20,000. This cost may vary depending on the laboratory and location of the test.

Conclusion

EBS with PA is a rare genetic condition that can cause significant skin and digestive problems. Early diagnosis through genetic testing can help to manage symptoms and improve outcomes for individuals with this condition. The NGS Genetic DNA Test is a powerful tool for identifying mutations in the PLEC gene and is a non-invasive procedure that can be performed using a simple blood sample.

At DNA Labs India, we offer NGS Genetic DNA Test for EBS with PA. Our team of experienced geneticists and technicians use state-of-the-art technology to provide accurate and reliable results. Contact us today to learn more about our genetic testing services.