Short Description

NGS genetic DNA test detecets for variant and mutation detection in TRPV3 gene for Olmsted syndrome

PreTest Information

Clinical History of Patient who is going for TRPV3 Gene Olmsted syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TRPV3 Gene Olmsted syndrome NGS Genetic DNA Test gene TRPV3

Detail Description

TRPV3 Gene and Olmsted Syndrome: Understanding the Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Olmsted Syndrome is a rare inherited skin disorder characterized by thick, scaly skin and abnormal hair growth. It is caused by a mutation in the TRPV3 gene, which codes for a protein involved in skin development. Understanding this gene and the syndrome it causes can help in the diagnosis and treatment of affected individuals.

What is the TRPV3 Gene?

The TRPV3 gene is located on chromosome 17 and codes for a protein called transient receptor potential vanilloid 3. This protein is involved in skin development and helps regulate the growth and differentiation of skin cells. Mutations in this gene can cause Olmsted Syndrome, a rare genetic disorder that affects the skin, nails, and hair.

What is Olmsted Syndrome?

Olmsted Syndrome is a rare genetic disorder characterized by thick, scaly skin and abnormal hair growth. It is caused by a mutation in the TRPV3 gene, which leads to an overgrowth of skin cells. This overgrowth causes thickened, scaly skin that can be painful and itchy. In addition, individuals with Olmsted Syndrome may have abnormal hair growth, including thicker, coarser hair on the scalp and eyebrows.

Symptoms of Olmsted Syndrome

The symptoms of Olmsted Syndrome can vary from person to person, but typically include:

• Thick, scaly skin on the hands and feet
• Abnormal hair growth, including thicker, coarser hair on the scalp and eyebrows
• Abnormal nails, including thickened, ridged, or discolored nails
• Swelling and inflammation of the skin
• Pain and itching
• Eye problems, including cataracts and corneal ulcers

Diagnosis of Olmsted Syndrome

Olmsted Syndrome is diagnosed based on clinical symptoms, family history, and genetic testing. A skin biopsy may also be performed to confirm the diagnosis. Genetic testing is the most reliable method of diagnosis, as it can detect mutations in the TRPV3 gene that cause Olmsted Syndrome.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing in India can vary depending on the laboratory and the specific test being performed. However, on average, the cost of NGS genetic DNA testing for Olmsted Syndrome in India is around INR 20,000.

Conclusion

Olmsted Syndrome is a rare genetic disorder caused by a mutation in the TRPV3 gene. Understanding the symptoms and diagnosis of this disorder can help in the treatment and management of affected individuals. NGS genetic DNA testing is an important tool in the diagnosis of Olmsted Syndrome, and the cost of this testing in India is around INR 20,000.

If you suspect that you or a loved one may have Olmsted Syndrome, it is important to speak with a healthcare provider and undergo genetic testing to confirm the diagnosis. With proper diagnosis and management, individuals with Olmsted Syndrome can live healthy, fulfilling lives.