Short Description

NGS genetic DNA test detecets for variant and mutation detection in KRT14 gene for Epidermolysis bullosa simplex, autosomal recessive type 1

PreTest Information

Clinical History of Patient who is going for KRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic DNA Test gene KRT14

Detail Description

KRT14 Gene Epidermolysis Bullosa Simplex, Autosomal Recessive Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Epidermolysis Bullosa Simplex (EBS) is a group of inherited skin disorders that cause blistering and skin erosion. It is caused by mutations in genes that are responsible for making proteins that attach the outermost layer of skin to the underlying layers. EBS can be inherited in an autosomal dominant or autosomal recessive pattern.

Autosomal recessive EBS type 1 is caused by mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14, which is found in the skin's outermost layer. Mutations in the KRT14 gene can lead to a lack of keratin 14 or the production of a defective version of the protein, causing the skin to be fragile and prone to blistering.

The symptoms of EBS can range from mild to severe, and they can vary depending on the type of EBS. In general, people with EBS have skin that is very fragile and prone to blistering. The blisters can be painful, and they can become infected if they are not treated properly. Other symptoms may include:

• Thickening of the skin on the palms of the hands and soles of the feet
• Calluses on the hands and feet
• Scarring
• Nail dystrophy
• Difficulty swallowing (in severe cases)

Diagnosis of EBS is usually made based on the symptoms and a physical examination. A skin biopsy may be done to confirm the diagnosis. Genetic testing can also be done to identify the specific gene mutation that is causing the condition.

NGS Genetic DNA testing is a powerful tool that can be used to diagnose EBS. It involves sequencing the entire genome to identify any mutations in the KRT14 gene. This type of testing is highly accurate and can identify mutations that may be missed by other types of genetic testing.

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

In conclusion, EBS is a rare genetic skin disorder that can be caused by mutations in the KRT14 gene. Symptoms can range from mild to severe, and diagnosis is usually based on physical examination and genetic testing. NGS Genetic DNA testing is a highly accurate tool that can be used to diagnose EBS and identify specific gene mutations. The cost of this testing is approximately INR 20000.

At DNA Labs India, we offer NGS Genetic DNA testing for a wide range of genetic disorders, including EBS. Our state-of-the-art laboratory is equipped with the latest technology, and our team of experts is dedicated to providing accurate and reliable results. Contact us today to learn more about our services.