CD40LG Gene Immunodeficiency X-linked with hyper-IgM Genetic Test
Introduction
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 producing a protein called CD40 ligand.
Test Details
Test Name: CD40LG Gene Immunodeficiency X-linked with hyper-IgM Genetic Test
Components: CD40LG gene immunodeficiency, X-linked with hyper-IgM NGS Genetic DNA Test
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Osteology Dermatology Immunology Disorders
Doctor: Dermatologist
Test Department: Genetics
Pre Test 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
Symptoms and Diagnosis
In individuals with CD40LG gene immunodeficiency, the CD40 ligand protein is either absent or non-functional, leading to a deficiency in antibody production. As a result, individuals with this condition have a weakened immune system and are more susceptible to recurrent infections, particularly those caused by bacteria. They may also have reduced levels of immunoglobulin (Ig) A, IgG, and IgE, but elevated levels of IgM, a type of antibody. This is why the condition is referred to as hyper-IgM.
Inheritance and Genetic Testing
CD40LG gene immunodeficiency, X-linked with hyper-IgM is inherited in an X-linked recessive manner, meaning the gene mutation is located on the X chromosome. This means that the condition primarily affects males, while females are typically carriers of the gene mutation.
NGS genetic testing, or next-generation sequencing genetic testing, is a type of genetic testing that allows for the simultaneous analysis of multiple genes. It can be used to identify mutations in the CD40LG gene associated with CD40LG gene immunodeficiency, X-linked with hyper-IgM. NGS testing can help confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of passing on the condition to future generations.
| Test Name | CD40LG Gene Immunodeficiency X-linked with hyper-IgM Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
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 producing a protein called CD40 ligand. CD40 ligand is important for the activation of immune cells, specifically B cells. B cells are responsible for producing antibodies that help fight off infections. In individuals with CD40LG gene immunodeficiency, the CD40 ligand protein is either absent or non-functional, leading to a deficiency in antibody production. As a result, individuals with this condition have a weakened immune system and are more susceptible to recurrent infections, particularly those caused by bacteria. They may also have reduced levels of immunoglobulin (Ig) A, IgG, and IgE, but elevated levels of IgM, a type of antibody. This is why the condition is referred to as hyper-IgM. CD40LG gene immunodeficiency, X-linked with hyper-IgM is inherited in an X-linked recessive manner, meaning the gene mutation is located on the X chromosome. This means that the condition primarily affects males, while females are typically carriers of the gene mutation. NGS genetic testing, or next-generation sequencing genetic testing, is a type of genetic testing that allows for the simultaneous analysis of multiple genes. It can be used to identify mutations in the CD40LG gene associated with CD40LG gene immunodeficiency, X-linked with hyper-IgM. NGS testing can help confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of passing on the condition to future generations. |
