Short Description

NGS genetic DNA test detecets for variant and mutation detection in NOD2 gene for Blau syndrome

PreTest Information

Clinical History of Patient who is going for NOD2 Gene Blau syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NOD2 Gene Blau syndrome NGS Genetic DNA Test gene NOD2

Detail Description

NOD2 Gene Blau Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis

Blau syndrome, also known as juvenile sarcoidosis, is a rare genetic disorder that affects multiple systems in the body. It is an autosomal dominant condition that is caused by mutations in the NOD2 gene. This gene provides instructions for making a protein that is involved in the immune system's response to infection and inflammation.

Blau syndrome is characterized by the presence of granulomas, which are clusters of immune cells that form in various organs of the body. These granulomas can cause inflammation and damage to affected tissues. Symptoms of Blau syndrome usually begin in childhood and can include:

• Arthritis
• Skin rash
• Uveitis (inflammation of the eye)
• Fever
• Swollen lymph nodes

Diagnosis of Blau syndrome can be difficult because it is a rare disorder and its symptoms can be similar to those of other conditions. However, genetic testing can help confirm a diagnosis. The NOD2 gene Blau syndrome NGS genetic DNA test is a comprehensive test that analyzes the NOD2 gene for mutations that are associated with Blau syndrome.

The cost of the NOD2 gene Blau syndrome NGS genetic DNA test in India is INR 20000. This test can be performed on a blood or saliva sample and results are typically available within a few weeks.

If you or a loved one is experiencing symptoms of Blau syndrome, it is important to seek medical attention. Early diagnosis and treatment can help manage symptoms and improve quality of life.