Short Description

NGS genetic DNA test detecets for variant and mutation detection in RAG1 gene for Severe combined immunodeficiency, B cell-negative

PreTest Information

Clinical History of Patient who is going for RAG1 Gene Severe combined immunodeficiency, B cell-negative NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RAG1 Gene Severe combined immunodeficiency, B cell-negative NGS Genetic DNA Test gene RAG1

Detail Description

RAG1 Gene Severe Combined Immunodeficiency (SCID) - Symptoms, Diagnosis, and Genetic Testing Cost

Severe Combined Immunodeficiency (SCID) is a rare genetic disorder that affects the immune system of an individual. It is caused due to mutations in the Recombination Activating Gene 1 (RAG1) or Recombination Activating Gene 2 (RAG2). RAG1 gene SCID is a type of SCID that is caused due to mutations in the RAG1 gene.

Symptoms of RAG1 Gene SCID

The symptoms of RAG1 Gene SCID can vary from person to person. However, some of the common symptoms include:

• Recurrent infections that are difficult to treat
• Chronic diarrhea
• Failure to gain weight or grow normally
• Recurrent pneumonia
• Thrush (a fungal infection of the mouth)
• Severe skin rashes or infections
• Enlarged liver and spleen

Diagnosis of RAG1 Gene SCID

RAG1 Gene SCID can be diagnosed through various tests. These include:

• Blood tests to check for low levels of immune cells
• Genetic testing to check for mutations in the RAG1 gene
• Flow cytometry to analyze the immune cells
• Immunoglobulin levels test to check for low levels of antibodies
• Tests to check for infections

NGS Genetic DNA Test for RAG1 Gene SCID

Next-Generation Sequencing (NGS) is a high-throughput DNA sequencing technology that can analyze millions of DNA sequences at once. NGS Genetic DNA test for RAG1 Gene SCID is a type of genetic testing that uses NGS technology to analyze the RAG1 gene. This test can detect mutations in the RAG1 gene that can cause SCID.

Cost of NGS Genetic DNA Test for RAG1 Gene SCID

The cost of NGS Genetic DNA Test for RAG1 Gene SCID in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

RAG1 Gene SCID is a rare genetic disorder that affects the immune system of an individual. The symptoms of RAG1 Gene SCID include recurrent infections, chronic diarrhea, and failure to gain weight or grow normally. RAG1 Gene SCID can be diagnosed through various tests including genetic testing and NGS Genetic DNA Test. The cost of NGS Genetic DNA Test for RAG1 Gene SCID in India is approximately INR 20,000. If you suspect that you or your child may have RAG1 Gene SCID, it is important to consult a doctor and get tested.