Short Description

NGS genetic DNA test detecets for variant and mutation detection in EXPH5 gene for Epidermolysis bullosa, nonspecific, autosomal recessive

PreTest Information

Clinical History of Patient who is going for EXPH5 Gene Epidermolysis bullosa, nonspecific, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EXPH5 Gene Epidermolysis bullosa, nonspecific, autosomal recessive NGS Genetic DNA Test gene EXPH5

Detail Description

EXPH5 Gene Epidermolysis bullosa: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Epidermolysis bullosa (EB) is a rare genetic disorder that affects the skin and mucous membranes. It is caused by mutations in several genes that are involved in the production of proteins that help to anchor the skin layers together. One of these genes is the EXPH5 gene, which is associated with a nonspecific, autosomal recessive form of EB. In this blog, we will discuss the symptoms, diagnosis, and cost of NGS genetic DNA testing for EXPH5 gene mutations in India.

Symptoms of EXPH5 Gene Epidermolysis bullosa

People with EB have extremely fragile skin that blisters and tears easily in response to minor trauma or friction. The severity of the symptoms can vary widely, depending on the type of EB and the specific gene mutations involved. In general, people with the EXPH5 gene mutation form of EB tend to have milder symptoms than those with other forms of the disorder. Common symptoms include:

• Blisters and open sores on the skin, especially on the hands, feet, and joints
• Scarring and thickened skin
• Difficulty swallowing and breathing, in severe cases
• Nail dystrophy and hair loss

Diagnosis of EXPH5 Gene Epidermolysis bullosa

Diagnosis of EB typically involves a combination of clinical evaluation, skin biopsies, and genetic testing. A dermatologist or geneticist will examine the skin and mucous membranes for signs of blistering and scarring. A skin biopsy may be taken to examine the structure of the skin layers and determine the type of EB. Genetic testing can identify specific gene mutations that cause EB, including the EXPH5 gene mutation.

NGS Genetic DNA Test Cost for EXPH5 Gene Epidermolysis bullosa in India

NGS genetic DNA testing is a powerful tool for identifying gene mutations that cause EB. This type of testing uses advanced sequencing technology to examine the entire genome and identify genetic variants that are associated with EB. The cost of NGS genetic DNA testing for EXPH5 gene mutations in India is approximately INR 20,000. This cost may vary depending on the specific testing provider and the type of testing performed.

Conclusion

EXPH5 gene Epidermolysis bullosa is a rare genetic disorder that can cause significant skin and mucous membrane damage. Symptoms of EB can vary widely, but typically involve blistering, scarring, and nail dystrophy. Diagnosis of EB involves a combination of clinical evaluation, skin biopsies, and genetic testing. NGS genetic DNA testing is a powerful tool for identifying gene mutations that cause EB, including the EXPH5 gene mutation. The cost of NGS genetic DNA testing for EXPH5 gene mutations in India is approximately INR 20,000.

If you or a loved one are experiencing symptoms of EB, it is important to seek medical attention from a qualified dermatologist or geneticist. Early diagnosis and treatment can help to manage symptoms and prevent complications.