Short Description

NGS genetic DNA test detecets for variant and mutation detection in KRT5 gene for Epidermolysis bullosa simplex

PreTest Information

Clinical History of Patient who is going for KRT5 Gene Epidermolysis bullosa simplex NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT5 Gene Epidermolysis bullosa simplex NGS Genetic DNA Test gene KRT5

Detail Description

KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Epidermolysis bullosa simplex (EBS) is a rare genetic condition that affects the skin and mucous membranes. It is caused by mutations in the KRT5 gene, which provides instructions for making a protein called keratin 5. Keratin 5 is essential for the structure and function of the skin, and mutations in the KRT5 gene can cause the skin to become fragile and prone to blistering and tearing.

NGS (next-generation sequencing) is a powerful technology that can be used to analyze the DNA of individuals with EBS. NGS allows for the rapid and accurate identification of mutations in the KRT5 gene, which can help with the diagnosis and treatment of EBS.

Symptoms of EBS

The symptoms of EBS can vary depending on the severity of the condition. In mild cases, individuals may experience only occasional blistering and tearing of the skin. In more severe cases, individuals may experience frequent blistering and tearing of the skin, which can lead to scarring, infections, and other complications.

Other symptoms of EBS may include:

• Thickened skin on the palms of the hands and soles of the feet
• Formation of calluses and corns
• Nail dystrophy
• Hair loss
• Difficulty swallowing

Diagnosis of EBS

Diagnosis of EBS typically involves a physical examination, a review of the individual's medical history, and genetic testing. NGS genetic DNA testing is an accurate and reliable method for identifying mutations in the KRT5 gene.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for EBS is approximately INR 20000. This cost may vary depending on the testing facility and the specific tests that are performed.

Conclusion

EBS is a rare genetic condition that can cause significant discomfort and complications for affected individuals. NGS genetic DNA testing is a powerful tool for diagnosing EBS and identifying mutations in the KRT5 gene. The cost of NGS genetic DNA testing for EBS is approximately INR 20000, and can provide valuable information for the treatment and management of this condition.

If you suspect that you or a loved one may have EBS, it is important to speak with a healthcare professional. They can provide you with more information about the condition and recommend appropriate testing and treatment options.

At DNA Labs India, we offer NGS genetic DNA testing for a variety of genetic conditions, including EBS. Our team of highly trained and experienced professionals is dedicated to providing accurate and reliable testing services to our clients. Contact us today to learn more about our services and how we can help you.