Short Description

NGS genetic DNA test detecets for variant and mutation detection in DSG1 gene for Keratosis palmoplantaris striata type 1

PreTest Information

Clinical History of Patient who is going for DSG1 Gene Keratosis palmoplantaris striata type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSG1 Gene Keratosis palmoplantaris striata type 1 NGS Genetic DNA Test gene DSG1

Detail Description

DSG1 Gene Keratosis Palmoplantaris Striata Type 1 NGS Genetic DNA Test

Keratosis palmoplantaris striata type 1 is a rare genetic skin disorder that is inherited in an autosomal dominant manner. This disorder is caused by mutations in the DSG1 gene that provides instructions for making a protein called desmoglein-1. Desmoglein-1 is an important component of the skin that helps to hold skin cells together.

Individuals with this disorder have thick, scaly, and dry skin on the palms of their hands and soles of their feet. The skin may also be thickened on the sides of the fingers and toes. The symptoms typically appear during childhood or adolescence and may worsen over time. In some cases, the skin may crack and bleed, leading to pain and discomfort.

Diagnosis of keratosis palmoplantaris striata type 1 is typically based on physical examination, family history, and genetic testing. Genetic testing involves analyzing the DNA of an individual to identify mutations in the DSG1 gene. This can be done using a technique called next-generation sequencing (NGS).

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for keratosis palmoplantaris striata type 1 varies depending on the laboratory and location. In India, the cost of this test is typically around INR 20,000.

Symptoms of Keratosis Palmoplantaris Striata Type 1

The symptoms of keratosis palmoplantaris striata type 1 include:

• Thick, scaly, and dry skin on the palms of the hands and soles of the feet
• Thickened skin on the sides of the fingers and toes
• Cracked and bleeding skin
• Pain and discomfort

Diagnosis of Keratosis Palmoplantaris Striata Type 1

Diagnosis of keratosis palmoplantaris striata type 1 is typically based on:

• Physical examination
• Family history
• Genetic testing

Genetic testing involves analyzing the DNA of an individual to identify mutations in the DSG1 gene. This can be done using a technique called next-generation sequencing (NGS).

Conclusion

Keratosis palmoplantaris striata type 1 is a rare genetic skin disorder that is caused by mutations in the DSG1 gene. Diagnosis of this disorder is typically based on physical examination, family history, and genetic testing using NGS. The cost of an NGS genetic DNA test for keratosis palmoplantaris striata type 1 in India is typically around INR 20,000. If you suspect that you or a loved one may have this disorder, it is important to seek the advice of a healthcare professional.

At DNA Labs India, we offer NGS genetic DNA testing services for a variety of genetic disorders, including keratosis palmoplantaris striata type 1. Our team of experienced genetic counselors and technicians can provide you with accurate and reliable results. Contact us today to learn more about our services.