Short Description

NGS genetic DNA test detecets for variant and mutation detection in FOXP3 gene for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

PreTest Information

Clinical History of Patient who is going for FOXP3 Gene Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FOXP3 Gene Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked NGS Genetic DNA Test gene FOXP3

Detail Description

FOXP3 Gene Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-linked NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

FOXP3 gene immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare genetic disorder that affects the immune system. It is caused by mutations in the FOXP3 gene, which plays a critical role in the development and function of regulatory T cells. These cells are responsible for controlling the immune response and preventing the body from attacking its own tissues.

IPEX syndrome is characterized by a range of symptoms, including severe diarrhea, eczema, diabetes, and autoimmune disorders affecting different organs. The severity and onset of symptoms can vary widely, even among individuals with the same genetic mutation.

Diagnosis and Testing

Diagnosing IPEX syndrome can be challenging, as the symptoms can be similar to other autoimmune disorders. However, genetic testing is a highly effective way to confirm a diagnosis. Next-generation sequencing (NGS) technology can detect mutations in the FOXP3 gene with high accuracy and sensitivity. This test can be performed on a blood sample and typically costs around INR 20,000.

If a genetic mutation is identified, other family members may also be tested to determine if they carry the same mutation and are at risk for developing IPEX syndrome.

Treatment and Management

Currently, there is no cure for IPEX syndrome. Treatment focuses on managing symptoms and preventing complications. This may include medications to suppress the immune system, such as steroids or immunosuppressants. In some cases, a bone marrow transplant may be necessary to replace the defective immune cells with healthy ones.

Individuals with IPEX syndrome require ongoing monitoring and care from a team of healthcare professionals, including gastroenterologists, endocrinologists, and immunologists. Early diagnosis and treatment can improve outcomes and quality of life for those with IPEX syndrome.

SEO Optimization

Are you or a loved one experiencing symptoms of severe diarrhea, eczema, diabetes, or autoimmune disorders? It may be a sign of IPEX syndrome, a rare genetic disorder that affects the immune system. The FOXP3 gene immunodysregulation, polyendocrinopathy, and enteropathy, X-linked NGS genetic DNA test can confirm a diagnosis with high accuracy and sensitivity for around INR 20,000.

Treatment for IPEX syndrome focuses on managing symptoms and preventing complications. Early diagnosis and ongoing monitoring from a team of healthcare professionals can improve outcomes and quality of life. Don't wait to seek help – contact DNA Labs India for more information about genetic testing and diagnosis for IPEX syndrome.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for FOXP3 Gene Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked NGS Genetic DNA Test