Short Description

NGS genetic DNA test detecets for variant and mutation detection in LAMC2 gene for Epidermolysis bullosa, junctional

PreTest Information

Clinical History of Patient who is going for LAMC2 Gene Epidermolysis bullosa, junctional NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LAMC2 Gene Epidermolysis bullosa, junctional NGS Genetic DNA Test gene LAMC2

Detail Description

LAMC2 Gene Epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of genetic skin disorders characterized by fragile skin that blisters and forms painful sores from minor trauma or friction. Junctional Epidermolysis bullosa (JEB) is a rare form of EB caused by mutations in the LAMC2 gene.

The LAMC2 gene encodes a protein called laminin-332 that is essential for the attachment of skin layers. Mutations in this gene can result in the formation of blisters and erosions in the skin, mucous membranes, and other organs.

Symptoms

The symptoms of JEB can vary depending on the severity of the mutations in the LAMC2 gene. Common symptoms include:

• Blisters and erosions in the skin and mucous membranes
• Difficulty swallowing and breathing
• Dental problems
• Scarring
• Increased risk of infection

Diagnosis

JEB can be diagnosed through a combination of clinical examination, family history, and genetic testing. A genetic test can detect mutations in the LAMC2 gene using next-generation sequencing (NGS) technology.

NGS genetic DNA test cost in India for JEB can range from INR 20,000 to INR 30,000 depending on the laboratory and the specific test performed.

Treatment

There is currently no cure for JEB. Treatment focuses on managing symptoms and preventing complications. This may include:

• Dressings and bandages to protect the skin
• Pain management
• Nutritional support
• Surgery to correct dental or other physical abnormalities
• Preventive measures to reduce the risk of infection

If you or a loved one is experiencing symptoms of JEB, it is important to consult with a healthcare provider and a genetic counselor to determine the best course of action.

At DNA Labs India, we offer comprehensive genetic testing services for a wide range of genetic disorders, including JEB. Our state-of-the-art NGS technology allows us to provide accurate and timely results at an affordable cost. Contact us today to learn more.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for LAMC2 Gene Epidermolysis bullosa, junctional NGS Genetic DNA Test