FOXP3 Gene Immunodysregulation Polyendocrinopathy and Enteropathy X-linked Genetic Test
Test Details
The FOXP3 gene is responsible for the production of a protein called forkhead box P3 (FOXP3), which plays a critical role in the development and function of regulatory T cells (Tregs). Tregs are a subset of immune cells that help maintain immune tolerance and prevent autoimmune diseases.
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare genetic disorder caused by mutations in the FOXP3 gene. These mutations lead to a loss or dysfunction of Tregs, resulting in immune system dysregulation and the development of various autoimmune disorders.
Symptoms and Diagnosis
The symptoms of IPEX syndrome can vary widely but commonly include severe diarrhea, malabsorption, skin rashes, type 1 diabetes, thyroid dysfunction, and other endocrine disorders. The disorder is typically diagnosed in infancy or early childhood.
Next-generation sequencing (NGS) genetic testing is a powerful tool used to identify mutations in the FOXP3 gene and confirm a diagnosis of IPEX syndrome. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic variants associated with the disorder.
NGS genetic testing for FOXP3 gene mutations involves obtaining a blood sample from the individual suspected of having IPEX syndrome. The DNA is extracted from the blood cells and subjected to NGS analysis, which examines the entire coding region of the FOXP3 gene for any potential mutations or deletions.
Test Information
- Test Name: FOXP3 Gene Immunodysregulation Polyendocrinopathy and Enteropathy X-linked Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Test Type: Osteology Dermatology Immunology Disorders
- Doctor: Dermatologist
- Test Department: Genetics
- Pre Test 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
Treatment and Management
The results of the NGS genetic test can help confirm a diagnosis of IPEX syndrome and guide appropriate management and treatment options. Early diagnosis is crucial for implementing interventions such as immunosuppressive therapy, hematopoietic stem cell transplantation, or gene therapy to improve outcomes for individuals with IPEX syndrome.
| Test Name | FOXP3 Gene Immunodysregulation polyendocrinopathy and enteropathy X-linked Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
The FOXP3 gene is responsible for the production of a protein called forkhead box P3 (FOXP3), which plays a critical role in the development and function of regulatory T cells (Tregs). Tregs are a subset of immune cells that help maintain immune tolerance and prevent autoimmune diseases. Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare genetic disorder caused by mutations in the FOXP3 gene. These mutations lead to a loss or dysfunction of Tregs, resulting in immune system dysregulation and the development of various autoimmune disorders. The symptoms of IPEX syndrome can vary widely but commonly include severe diarrhea, malabsorption, skin rashes, type 1 diabetes, thyroid dysfunction, and other endocrine disorders. The disorder is typically diagnosed in infancy or early childhood. Next-generation sequencing (NGS) genetic testing is a powerful tool used to identify mutations in the FOXP3 gene and confirm a diagnosis of IPEX syndrome. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic variants associated with the disorder. NGS genetic testing for FOXP3 gene mutations involves obtaining a blood sample from the individual suspected of having IPEX syndrome. The DNA is extracted from the blood cells and subjected to NGS analysis, which examines the entire coding region of the FOXP3 gene for any potential mutations or deletions. The results of the NGS genetic test can help confirm a diagnosis of IPEX syndrome and guide appropriate management and treatment options. Early diagnosis is crucial for implementing interventions such as immunosuppressive therapy, hematopoietic stem cell transplantation, or gene therapy to improve outcomes for individuals with IPEX syndrome. |
