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X-Linked Agammaglobulinemia: Diagnosis

 
Medical Encyclopedia: X-Linked Agammaglobulinemia: Diagnosis
More about X-Linked Agammaglobulinemia:
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Frequent bacterial infections, a lack of mature B cells, and low-to-nonexistent levels of immunoglobulins point to a diagnosis of XLA. A sample of the infant's blood serum can be analyzed for the presence of immunoglobulins by a technique called immunoelectrophoresis. To make a definitive diagnosis, the child's X chromosome is analyzed for defects in the Btk gene. Similar analysis can be used for prenatal diagnosis or to detect carriers of the defective gene.

— Julia Barrett



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