Short Description

NGS genetic DNA test detecets for variant and mutation detection in CSTA gene for Peeling skin syndrome type 4

PreTest Information

Clinical History of Patient who is going for CSTA Gene Peeling skin syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CSTA Gene Peeling skin syndrome type 4 NGS Genetic DNA Test gene CSTA

Detail Description

CSTA Gene Peeling Skin Syndrome Type 4 NGS Genetic DNA Test

Peeling skin syndrome type 4 is a genetic disorder that causes the skin to peel off in sheets. It is caused by mutations in the CSTA gene which provides instructions for making the cystatin A protein. This protein helps to regulate the breakdown of proteins in the skin, and mutations in the CSTA gene disrupt this process, leading to the detachment of the outermost layer of the skin.

Symptoms of Peeling Skin Syndrome Type 4

Peeling skin syndrome type 4 is characterized by persistent peeling of the skin, particularly on the hands and feet. The peeling can be painless or accompanied by itching, redness, and inflammation. The skin may also be prone to infections and blistering. Symptoms of peeling skin syndrome type 4 typically appear in infancy or early childhood and persist throughout life.

Diagnosis of Peeling Skin Syndrome Type 4

A diagnosis of peeling skin syndrome type 4 can be made through a genetic test that looks for mutations in the CSTA gene. Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations associated with skin disorders like peeling skin syndrome type 4. NGS can sequence large amounts of DNA quickly and accurately, providing a comprehensive view of an individual’s genetic makeup.

The Cost of CSTA Gene Peeling Skin Syndrome Type 4 NGS Genetic DNA Test

The cost of a CSTA gene peeling skin syndrome type 4 NGS genetic DNA test is approximately INR 20,000. This cost may vary depending on the testing facility and any additional services that may be required.

Conclusion

Peeling skin syndrome type 4 is a rare genetic disorder that can cause significant discomfort and distress for those affected. Early diagnosis through genetic testing can help individuals and their families better understand the condition and develop effective management strategies. The cost of CSTA gene peeling skin syndrome type 4 NGS genetic DNA testing is a small investment in the long-term health and well-being of those affected by this condition.

For more information on genetic testing for peeling skin syndrome type 4, contact DNA Labs India today.