How is X-linked agammaglobulinemia diagnosed?

Answer 1

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

Answer 2

X-linked agammaglobulinemia is diagnosed through a combination of clinical evaluation, family history analysis, blood tests to measure immunoglobulin levels, and genetic testing to confirm mutations in the BTK gene. Additionally, bone marrow examination may be conducted to assess B-cell development. Early diagnosis is crucial to start appropriate treatment and prevent infections.