Short Description

NGS genetic DNA test detecets for variant and mutation detection in CD40LG gene for Immunodeficiency, X-linked with hyper-IgM

PreTest Information

Clinical History of Patient who is going for CD40LG Gene Immunodeficiency, X-linked with hyper-IgM NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CD40LG Gene Immunodeficiency, X-linked with hyper-IgM NGS Genetic DNA Test gene CD40LG

Detail Description

CD40LG Gene Immunodeficiency, X-linked with hyper-IgM NGS Genetic DNA Test

CD40LG Gene Immunodeficiency, X-linked with hyper-IgM is a rare genetic disorder that affects the immune system. It is caused by mutations in the CD40LG gene, which provides instructions for making a protein called CD40 ligand. This protein plays a key role in the immune system by helping immune cells communicate with each other and mount an effective response against infections.

Symptoms

The symptoms of CD40LG Gene Immunodeficiency, X-linked with hyper-IgM can vary widely, but they often include:

• Recurrent infections, such as pneumonia, sinusitis, and ear infections
• Frequent or severe infections with opportunistic organisms, such as Pneumocystis jirovecii, Cryptosporidium, or Mycobacterium avium complex
• Chronic diarrhea
• Enlarged lymph nodes, liver, or spleen
• Failure to thrive or growth retardation

Diagnosis

Diagnosis of CD40LG Gene Immunodeficiency, X-linked with hyper-IgM typically involves a combination of clinical evaluation, laboratory testing, and genetic testing. Laboratory tests may include:

• Complete blood count (CBC)
• Immunoglobulin levels
• Lymphocyte subset analysis
• HIV testing

Genetic testing is the definitive method for diagnosing CD40LG Gene Immunodeficiency, X-linked with hyper-IgM. Next-generation sequencing (NGS) is a powerful tool that can rapidly analyze multiple genes at once and identify mutations that may be responsible for the disorder.

NGS Genetic DNA Test

NGS Genetic DNA Test is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. It is a highly accurate and efficient method for identifying mutations that may be responsible for genetic disorders like CD40LG Gene Immunodeficiency, X-linked with hyper-IgM. The cost of the NGS Genetic DNA Test for CD40LG Gene Immunodeficiency, X-linked with hyper-IgM in India is approximately INR 20,000.

Conclusion

CD40LG Gene Immunodeficiency, X-linked with hyper-IgM is a rare genetic disorder that affects the immune system. Early diagnosis and treatment are critical for managing the symptoms and preventing complications. NGS Genetic DNA Test is a powerful tool that can rapidly analyze multiple genes at once and identify mutations that may be responsible for the disorder. If you or someone you know is experiencing symptoms of CD40LG Gene Immunodeficiency, X-linked with hyper-IgM, speak to a healthcare provider about getting tested.

For more information and to schedule a genetic testing appointment, contact DNA Labs India.