Short Description

NGS genetic DNA test detecets for variant and mutation detection in BTK gene for Agammaglobulinemia and isolated hormone deficiency

PreTest Information

Clinical History of Patient who is going for BTK Gene Agammaglobulinemia and isolated hormone deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BTK Gene Agammaglobulinemia and isolated hormone deficiency NGS Genetic DNA Test gene BTK

Detail Description

What is BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency?

BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency are two separate but related genetic conditions that are caused by mutations in the BTK gene. The BTK gene provides instructions for making a protein called Bruton tyrosine kinase, which is essential for the normal development and function of B cells in the immune system and various hormones in the body.

Agammaglobulinemia is a condition in which the body is unable to produce antibodies, which are proteins that help fight infections. Isolated hormone deficiency is a condition in which the body is unable to produce certain hormones, which can lead to various health problems.

Symptoms of BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency

The symptoms of BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency vary depending on the specific type and severity of the condition. Some common symptoms include:

• Recurrent infections, such as ear infections, sinus infections, and pneumonia
• Frequent diarrhea
• Delayed puberty
• Infertility
• Thyroid problems
• Adrenal gland problems

Diagnosis of BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency

BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency can be diagnosed through a genetic test called Next-Generation Sequencing (NGS) Genetic DNA Test. This test analyzes the DNA sequence of the BTK gene to identify any mutations or changes that may be causing the condition. The test is typically performed on a blood sample and can provide a definitive diagnosis in most cases.

Cost of NGS Genetic DNA Test for BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency

The cost of NGS Genetic DNA Test for BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency in India is approximately INR 20,000. The cost may vary depending on the specific laboratory or healthcare provider performing the test.

Conclusion

BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency are genetic conditions that can cause a range of health problems. If you or a loved one is experiencing any of the symptoms associated with these conditions, it is important to talk to a healthcare provider and consider undergoing a genetic test such as NGS Genetic DNA Test. Early diagnosis and treatment can help manage symptoms and improve overall health and quality of life.

For more information about BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency, contact DNA Labs India, a leading provider of genetic testing services in India.