Short Description

NGS genetic DNA test detects for variant and mutation detection in BLNK gene for Agammaglobulinemia type 1, autosomal recessive

PreTest Information

Clinical History of Patient who is going for BLNK Gene Agammaglobulinemia type 1, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IGHM Gene Agammaglobulinemia type 1, autosomal recessive NGS Genetic DNA Test gene IGHM

Detail Description

Understanding IGHM Gene Agammaglobulinemia type 1

Agammaglobulinemia type 1 is a rare genetic disorder that affects the immune system. It is caused by mutations in the IGHM gene, which is responsible for the production of immunoglobulin M (IgM) antibodies. These antibodies play a crucial role in fighting off infections caused by bacteria and viruses.

Symptoms of Agammaglobulinemia type 1

The symptoms of Agammaglobulinemia type 1 usually appear in early childhood. The most common symptoms include:

• Recurrent infections, such as pneumonia, sinusitis, and ear infections
• Chronic diarrhea
• Frequent skin infections
• Delayed growth and development

Children with Agammaglobulinemia type 1 are also more susceptible to infections caused by live vaccines, such as the measles, mumps, and rubella (MMR) vaccine.

Diagnosing Agammaglobulinemia type 1

Agammaglobulinemia type 1 is diagnosed through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the IGHM gene. A blood test may also be performed to check for low levels of immunoglobulin M antibodies.

NGS Genetic DNA Test for Agammaglobulinemia type 1

NGS Genetic DNA testing is a highly accurate and reliable method for diagnosing Agammaglobulinemia type 1. This test involves sequencing the patient's entire genome to look for mutations in the IGHM gene. The test can be done using a blood sample or a saliva sample.

Cost of NGS Genetic DNA Test for Agammaglobulinemia type 1

The cost of NGS Genetic DNA testing for Agammaglobulinemia type 1 is INR 20,000. This includes the cost of the test, as well as the cost of genetic counseling and interpretation of the test results.

Conclusion

Agammaglobulinemia type 1 is a rare genetic disorder that affects the immune system. It is caused by mutations in the IGHM gene, which is responsible for the production of immunoglobulin M antibodies. Symptoms of Agammaglobulinemia type 1 include recurrent infections, chronic diarrhea, frequent skin infections, and delayed growth and development. The disorder can be diagnosed through genetic testing, including NGS Genetic DNA testing. The cost of NGS Genetic DNA testing for Agammaglobulinemia type 1 is INR 20,000.

If you or a loved one is experiencing symptoms of Agammaglobulinemia type 1, it is important to seek medical attention and genetic testing. Early diagnosis and treatment can improve outcomes and quality of life.