Short Description

NGS genetic DNA test detecets for variant and mutation detection in RFXANK gene for Bare lymphocyte syndrome, type 2

PreTest Information

Clinical History of Patient who is going for RFXANK Gene Bare lymphocyte syndrome, type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RFXANK Gene Bare lymphocyte syndrome, type 2 NGS Genetic DNA Test gene RFXANK

Detail Description

RFXANK Gene Bare Lymphocyte Syndrome, Type 2 NGS Genetic DNA Test

Bare Lymphocyte Syndrome (BLS) is a rare genetic disorder that affects the immune system. It is caused by mutations in the genes that encode the proteins responsible for the presentation of antigens to T cells. BLS can be classified into two types, BLS type 1 and BLS type 2. BLS type 2 is caused by mutations in the RFXANK gene.

Symptoms of BLS Type 2

The symptoms of BLS type 2 can vary widely from person to person. Some people may have no symptoms at all, while others may experience recurrent infections, chronic diarrhea, and failure to thrive. In severe cases, BLS type 2 can lead to life-threatening infections.

Diagnosis of BLS Type 2

BLS type 2 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool for identifying mutations in the RFXANK gene. This test can be performed on a blood or saliva sample.

Cost of the NGS Genetic DNA Test

The cost of the NGS genetic DNA test for BLS type 2 at DNA Labs India is INR 20,000.

Conclusion

If you or someone you know is experiencing symptoms of BLS type 2, it is important to seek medical attention as soon as possible. Genetic testing can provide a definitive diagnosis and help guide treatment decisions. DNA Labs India offers affordable and accurate NGS genetic DNA testing for BLS type 2. Contact us today to schedule your test.