Short Description

NGS genetic DNA test detecets for variant and mutation detection in BTK gene for Agammaglobulinemia type 1, X-linked

PreTest Information

Clinical History of Patient who is going for BTK Gene Agammaglobulinemia type 1, X-linked NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BTK Gene Agammaglobulinemia type 1, X-linked NGS Genetic DNA Test gene BTK

Detail Description

BTK Gene Agammaglobulinemia Type 1, X-Linked NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Agammaglobulinemia type 1, X-linked is a rare genetic disorder that affects the immune system. It is caused by a mutation in the BTK gene, which is responsible for producing a protein that is crucial for the development and maturation of B cells, a type of white blood cell that produces antibodies to fight infections. Without functional B cells, individuals with this disorder are unable to produce effective immune responses, making them highly susceptible to recurrent bacterial infections.

Symptoms

The symptoms of agammaglobulinemia type 1, X-linked may vary from person to person, but usually include:

• Recurrent bacterial infections, such as ear infections, sinusitis, pneumonia, and skin infections
• Chronic diarrhea
• Failure to thrive and poor growth
• Recurrent viral infections, such as influenza and herpes simplex virus
• Enlarged lymph nodes and spleen

These symptoms typically appear in the first few months of life, although some individuals may not develop symptoms until later in childhood or even adulthood.

Diagnosis

Agammaglobulinemia type 1, X-linked is diagnosed through genetic testing, which involves analyzing a sample of an individual's DNA to identify mutations in the BTK gene. Other tests that may be used to confirm the diagnosis include blood tests to measure antibody levels and immune function, as well as imaging tests to evaluate the lymph nodes and spleen.

NGS Genetic DNA Test Cost INR: 20000

The NGS Genetic DNA Test for agammaglobulinemia type 1, X-linked is a specialized genetic test that uses next-generation sequencing technology to analyze an individual's DNA for mutations in the BTK gene. This test is offered by DNA Labs India and costs INR 20000. The test requires a small blood or saliva sample and typically takes 2-3 weeks to provide results.

Conclusion

Agammaglobulinemia type 1, X-linked is a rare genetic disorder that affects the immune system. Symptoms include recurrent bacterial and viral infections, chronic diarrhea, and poor growth. Diagnosis is made through genetic testing, and the NGS Genetic DNA Test for this disorder is offered by DNA Labs India at a cost of INR 20000. Early diagnosis and treatment can help individuals with this disorder manage their symptoms and improve their quality of life.

For more information or to schedule a test, please contact DNA Labs India.