Short Description

NGS genetic DNA test detecets for variant and mutation detection in KRT14 gene for Epidermolysis bullosa simplex, Koebner type

PreTest Information

Clinical History of Patient who is going for KRT14 Gene Epidermolysis bullosa simplex, Koebner type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT14 Gene Epidermolysis bullosa simplex, Koebner type NGS Genetic DNA Test gene KRT14

Detail Description

KRT14 Gene Epidermolysis Bullosa Simplex, Koebner Type NGS Genetic DNA Test

Epidermolysis bullosa simplex, Koebner type is a rare genetic disorder that affects the skin and mucous membranes. It is caused by a mutation in the KRT14 gene that encodes for the keratin 14 protein. This protein is responsible for providing structural support to the skin cells.

People with this condition have fragile skin that is prone to blistering and tearing, especially in areas that are subject to friction or trauma. Blisters can occur on the hands, feet, knees, and elbows, as well as inside the mouth and throat. In severe cases, the blisters can become infected and lead to scarring and deformity.

Symptoms of Epidermolysis Bullosa Simplex, Koebner Type

The symptoms of epidermolysis bullosa simplex, Koebner type can vary in severity. Mild cases may only experience occasional blistering, while severe cases can have chronic blistering and scarring. Some common symptoms include:

• Blisters on the skin and mucous membranes
• Tearing and peeling of the skin
• Itching and burning sensation
• Thickened or calloused skin
• Nail dystrophy
• Tooth decay and gum disease

Diagnosis of Epidermolysis Bullosa Simplex, Koebner Type

Diagnosing epidermolysis bullosa simplex, Koebner type can be difficult because the symptoms can be similar to other skin conditions. A skin biopsy may be necessary to confirm the diagnosis. Genetic testing can also be done to identify the KRT14 gene mutation that causes the condition.

NGS Genetic DNA Test for KRT14 Gene Epidermolysis Bullosa Simplex, Koebner Type

NGS Genetic DNA testing is a powerful tool for identifying genetic mutations that cause various diseases, including epidermolysis bullosa simplex, Koebner type. DNA Labs India offers NGS Genetic DNA testing for the KRT14 gene mutation at an affordable cost of INR 20,000.

This test is done using a small blood sample and can identify the specific KRT14 gene mutation that causes the condition. This information can be used for accurate diagnosis, genetic counseling, and personalized treatment options.

Conclusion

Epidermolysis bullosa simplex, Koebner type is a rare genetic disorder that affects the skin and mucous membranes. Symptoms can range from mild to severe and can be difficult to diagnose. NGS Genetic DNA testing for the KRT14 gene mutation can provide accurate diagnosis and personalized treatment options. DNA Labs India offers this test at an affordable cost of INR 20,000.

If you suspect that you or a loved one may have epidermolysis bullosa simplex, Koebner type, it is important to seek medical attention and consider genetic testing to confirm the diagnosis.

For more information about NGS Genetic DNA testing for epidermolysis bullosa simplex, Koebner type, contact DNA Labs India.