Short Description

NGS genetic DNA test detecets for variant and mutation detection in RFX5 gene for Bare lymphocyte syndrome, type 2, complementation group C

PreTest Information

Clinical History of Patient who is going for RFX5 Gene Bare lymphocyte syndrome, type 2, complementation group C NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RFX5 Gene Bare lymphocyte syndrome, type 2, complementation group C NGS Genetic DNA Test gene RFX5

Detail Description

RFX5 Gene Bare Lymphocyte Syndrome, Type 2, Complementation Group C NGS Genetic DNA Test

Bare Lymphocyte Syndrome (BLS) is a rare genetic disorder that affects the immune system. There are four types of BLS, and type 2 is caused by mutations in the RFX5 gene. Complementation group C refers to a specific set of mutations in the RFX5 gene that cause type 2 BLS.

Symptoms of Type 2 BLS

People with type 2 BLS have a weakened immune system, which makes them more susceptible to infections. They may also have:

• Frequent infections, such as sinus infections, pneumonia, and skin infections
• Recurrent viral infections, such as herpes simplex virus and cytomegalovirus
• Chronic diarrhea
• Growth problems
• Abnormalities in the lymph nodes and spleen

Diagnosis of Type 2 BLS

Type 2 BLS is diagnosed through genetic testing. A next-generation sequencing (NGS) genetic DNA test can identify mutations in the RFX5 gene that cause type 2 BLS. This test can be performed on a blood sample or a saliva sample.

Cost of the NGS Genetic DNA Test

The cost of the NGS genetic DNA test for type 2 BLS is INR 20,000. This cost may vary depending on the location and the laboratory that performs the test.

Conclusion

If you or a loved one has symptoms of type 2 BLS, it is important to speak with a healthcare provider. A genetic DNA test can help with diagnosis, and early diagnosis can lead to better management of the condition. The NGS genetic DNA test for type 2 BLS is available at DNA Labs India for INR 20,000.

At DNA Labs India, we provide a range of genetic tests for various conditions. Our tests are performed using the latest technology and are conducted by experienced professionals. Contact us today to learn more about our services.