Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDSN gene for Peeling skin syndrome type 1

PreTest Information

Clinical History of Patient who is going for CDSN Gene Peeling skin syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDSN Gene Peeling skin syndrome type 1 NGS Genetic DNA Test gene CDSN

Detail Description

Understanding CDSN Gene Peeling Skin Syndrome Type 1 NGS Genetic DNA Test

Peeling skin syndrome (PSS) is a rare genetic disorder that causes the skin to peel off in sheets, leaving behind raw, tender skin that is prone to infections. There are several different types of PSS, each caused by mutations in different genes. One of the most common types is peeling skin syndrome type 1 (PSS1), which is caused by mutations in the CDSN gene.

Symptoms of PSS1

The symptoms of PSS1 typically appear in infancy or early childhood. They include:

• Peeling skin, especially on the hands and feet
• Redness and inflammation of the affected areas
• Tenderness and pain in the affected areas
• Itching and burning sensations
• Blisters and sores that can become infected

The severity of symptoms can vary widely, even among individuals with the same genetic mutation. Some people may only experience mild peeling and redness, while others may have severe skin damage that affects their quality of life.

Diagnosis of PSS1

PSS1 is usually diagnosed based on the clinical symptoms, family history, and genetic testing. A skin biopsy may also be performed to confirm the diagnosis and rule out other skin conditions.

NGS Genetic DNA Test for CDSN Gene

The next-generation sequencing (NGS) genetic DNA test is a highly accurate and reliable method for detecting mutations in the CDSN gene. This test can identify the specific genetic mutation responsible for PSS1, allowing for early diagnosis and appropriate treatment.

Cost of NGS Genetic DNA Test for PSS1

The cost of the NGS genetic DNA test for PSS1 in India is INR 20,000. This includes the cost of genetic counseling, sample collection, and analysis.

Treatment for PSS1

There is currently no cure for PSS1, but there are several treatment options that can help manage the symptoms and prevent complications:

• Topical creams and ointments to soothe the skin and reduce inflammation
• Antibiotics to treat and prevent infections
• Moisturizers and emollients to prevent dryness and cracking of the skin
• Corticosteroids to reduce inflammation and pain
• Supportive therapy, such as physical therapy and occupational therapy, to improve mobility and function

Conclusion

PSS1 is a rare genetic disorder that causes the skin to peel off in sheets, leaving behind raw, tender skin that is prone to infections. Early diagnosis and appropriate treatment can help manage the symptoms and prevent complications. The NGS genetic DNA test for CDSN gene is a highly accurate and reliable method for detecting mutations in the gene, allowing for early diagnosis and appropriate treatment. The cost of the test is INR 20,000 in India.

If you suspect that you or your child may have PSS1, it is important to consult a healthcare professional for an accurate diagnosis and appropriate treatment.

At DNA Labs India, we offer a range of genetic tests and counseling services to help individuals and families understand their risk of genetic disorders and make informed decisions about their health. Contact us today to learn more about our services.