Short Description

NGS genetic DNA test detecets for variant and mutation detection in IL21R gene for Immunodeficiency, primary, autosomal recessive, IL21R-related

PreTest Information

Clinical History of Patient who is going for IL21R Gene Immunodeficiency, primary, autosomal recessive, IL21R-related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IL21R Gene Immunodeficiency, primary, autosomal recessive, IL21R-related NGS Genetic DNA Test gene IL21R

Detail Description

Understanding IL21R Gene Immunodeficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

IL21R Gene Immunodeficiency is a rare genetic disorder that affects the immune system’s ability to fight off infections. It is a primary immunodeficiency, which means it is caused by a genetic mutation that is present at birth. The disorder is autosomal recessive, which means that both parents must carry the mutated gene for the child to be affected.

IL21R Gene Immunodeficiency is caused by mutations in the IL21R gene. This gene is responsible for producing a protein that helps activate immune cells called T cells. T cells are important for fighting off infections, and when the IL21R gene is mutated, T cells are not activated properly. This leads to a weakened immune system, making it difficult for the body to fight off infections.

Symptoms of IL21R Gene Immunodeficiency

The symptoms of IL21R Gene Immunodeficiency can vary from person to person, but they generally include:

• Recurrent infections, such as pneumonia, sinusitis, and ear infections
• Frequent or prolonged diarrhea
• Delayed growth and development
• Anemia
• Enlarged liver and spleen
• Infections that are difficult to treat

These symptoms can be mild or severe, and they may become more frequent or severe over time. It is important to seek medical attention if you or your child is experiencing any of these symptoms.

Diagnosis of IL21R Gene Immunodeficiency

IL21R Gene Immunodeficiency is diagnosed through a genetic test. This test looks for mutations in the IL21R gene and can confirm whether or not a person has the disorder. The test is usually done using Next-Generation Sequencing (NGS) technology, which can analyze multiple genes at once and provide a more comprehensive analysis.

NGS Genetic DNA Test Cost for IL21R Gene Immunodeficiency in India is generally around INR 20,000.

Treatment and Management of IL21R Gene Immunodeficiency

There is no cure for IL21R Gene Immunodeficiency, but there are treatments available to manage the symptoms and prevent infections. Treatment options may include:

• Antibiotics to treat infections
• Immunoglobulin replacement therapy to provide the body with antibodies it needs to fight off infections
• Bone marrow transplantation to replace the faulty immune system with a healthy one

It is important for people with IL21R Gene Immunodeficiency to take steps to prevent infections, such as washing their hands frequently and avoiding contact with people who are sick. They should also receive all recommended vaccinations.

Conclusion

IL21R Gene Immunodeficiency is a rare genetic disorder that affects the immune system’s ability to fight off infections. It is diagnosed through a genetic test that looks for mutations in the IL21R gene, and treatment options may include antibiotics, immunoglobulin replacement therapy, and bone marrow transplantation. If you or your child is experiencing symptoms of IL21R Gene Immunodeficiency, it is important to seek medical attention.

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 IL21R Gene Immunodeficiency, primary, autosomal recessive, IL21R-related NGS Genetic DNA Test