Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL17A1 gene for Epidermolysis bullosa, junctional

PreTest Information

Clinical History of Patient who is going for COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic DNA Test gene COL17A1

Detail Description

COL17A1 Gene Epidermolysis Bullosa - Symptoms, Diagnosis, and NGS Genetic DNA Test Cost INR 20,000

Epidermolysis bullosa (EB) is a genetic disorder that causes the skin to be very fragile and prone to blistering. COL17A1 gene epidermolysis bullosa is a subtype of the disease that affects the skin at the junction between the epidermis and the dermis. This type of EB is caused by mutations in the COL17A1 gene, which codes for a protein called collagen type XVII.

Symptoms of COL17A1 Gene Epidermolysis Bullosa

COL17A1 gene epidermolysis bullosa can present with a range of symptoms, including:

• Blisters and sores on the skin, particularly in areas that experience friction or trauma
• Scarring and thickening of the skin
• Nail dystrophy (abnormal nail growth)
• Mucous membrane involvement (blisters and sores on the inside of the mouth, nose, and genitals)
• Hair loss
• Anemia and malnutrition (in severe cases)

Diagnosis of COL17A1 Gene Epidermolysis Bullosa

COL17A1 gene epidermolysis bullosa is diagnosed through a combination of clinical examination, family history, and genetic testing. A skin biopsy may also be performed to examine the skin tissue at a microscopic level.

NGS Genetic DNA Test Cost INR 20,000

Next-generation sequencing (NGS) genetic testing is a powerful tool for identifying genetic mutations that cause diseases like COL17A1 gene epidermolysis bullosa. This type of testing can analyze large amounts of genetic data quickly and accurately, allowing for a faster and more comprehensive diagnosis.

The cost of NGS genetic testing for COL17A1 gene epidermolysis bullosa in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and the complexity of the genetic analysis required.

Conclusion

COL17A1 gene epidermolysis bullosa is a rare but serious genetic disorder that can cause significant physical and emotional distress for patients and their families. Early diagnosis through genetic testing can help to ensure appropriate medical management and improve quality of life for affected individuals. If you or a loved one are experiencing symptoms of epidermolysis bullosa, it is important to seek medical attention and consider genetic testing to determine the underlying cause of the condition.

DNA Labs India is a leading provider of genetic testing services in India, with a focus on accuracy, affordability, and customer satisfaction. Contact us today to learn more about our NGS genetic testing options for COL17A1 gene epidermolysis bullosa and other genetic disorders.