Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is an inherited genetic disorder that affects various body systems. It is caused by mutations in the PTCH1 gene, which provides instructions for making a protein that helps regulate cell growth and division. When this gene is mutated, it can lead to the development of multiple basal cell carcinomas (BCCs), which are a type of skin cancer.

BCNS is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, not all people with the PTCH1 mutation will develop BCNS, and the severity of the condition can vary widely among affected individuals.

Symptoms of BCNS can include:

• Multiple BCCs on the skin, often appearing before the age of 20
• Small, noncancerous tumors in the jaw or other bones
• Calcification of the falx cerebri, which is a thin, curved bone that separates the two hemispheres of the brain
• Increased risk of other cancers, such as medulloblastoma (a type of brain cancer) and ovarian cancer

Diagnosis of BCNS typically involves a combination of clinical evaluation and genetic testing. If a person has multiple BCCs or other characteristic symptoms, a doctor may suspect BCNS and order genetic testing to confirm the diagnosis. The most common genetic test for BCNS is next-generation sequencing (NGS), which can detect mutations in the PTCH1 gene.

At DNA Labs India, we offer NGS genetic DNA testing for PTCH1 Gene Basal Cell Nevus Syndrome at a cost of INR 20000. Our state-of-the-art facility and experienced technicians ensure accurate and reliable results. If you suspect that you or a loved one may have BCNS, don't hesitate to get tested. Early diagnosis and treatment can help prevent serious complications.