Primary Hyper IgM Syndrome is a rare genetic immunodeficiency disorder that severely impairs the immune system's ability to produce effective antibodies. It is caused by genetic mutations that prevent the immune system from switching from producing Immunoglobulin M (IgM) to other antibody types like IgG and IgA, resulting in elevated IgM levels but deficient IgG and IgA. The Immunofixation, Serum test is the most important test for diagnosis because it detects the characteristic pattern of elevated IgM antibodies alongside reduced or absent IgG and IgA levels.
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Primary Hyper IgM Syndrome is caused by genetic mutations that affect the CD40 ligand gene or other genes involved in antibody class switching. These mutations prevent B cells from switching from producing IgM antibodies to producing IgG, IgA, and IgE antibodies, which are essential for fighting different types of infections. The most common form is X-linked, affecting primarily males, though autosomal recessive forms also exist. This genetic defect results in persistently elevated IgM levels while other antibody types remain severely reduced or absent, leaving the immune system unable to mount effective responses against bacterial, viral, and opportunistic infections.
The Immunofixation, Serum test is the most important test for Primary Hyper IgM Syndrome because it detects and measures the characteristic pattern of elevated Immunoglobulin M (IgM) antibodies while identifying severely reduced or absent IgG and IgA levels. This test uses specialized techniques to separate and identify different immunoglobulin types in the blood, providing a clear picture of the antibody imbalance that defines this condition. Healthcare providers also typically order quantitative immunoglobulin tests alongside immunofixation to measure exact antibody levels, and genetic testing may be recommended to identify the specific mutation causing the disorder. The distinctive antibody pattern revealed by immunofixation helps distinguish Primary Hyper IgM Syndrome from other immunodeficiency disorders and guides appropriate treatment decisions.
You should get tested if you or your child experiences frequent, severe, or unusual infections that don't respond well to standard treatments, particularly recurrent ear infections, pneumonia, sinus infections, or opportunistic infections like Pneumocystis pneumonia. Testing is especially important for males with a family history of immunodeficiency disorders or unexplained deaths from infections, as the most common form is X-linked and inherited. You should also seek testing if you notice persistent diarrhea, failure to thrive in children, enlarged lymph nodes, or liver problems alongside recurrent infections. Early diagnosis through blood testing is critical because prompt treatment with immunoglobulin replacement therapy and infection prevention measures can significantly improve outcomes and quality of life.
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What this means
Your testosterone levels are slightly below the optimal range. While this is not necessarily cause for concern, it may contribute to occasional fatigue, reduced motivation, or lower muscle mass over time.
Recommended actions
Increase resistance or strength training
Prioritize 7–8 hours of quality sleep per night, try to reduce stress
Include more zinc- and magnesium-rich foods (like shellfish, beef, pumpkin seeds, spinach)
Consider retesting in 3–6 months
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