Ataxia telangiectasia laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Diagnosis is usually achieved by examination and identification of both ataxia and oculo-cutaneous telangiectasia. This is then followed by laboratory tests for low levels of IgA, IgG2, IgG4, and IgE, though low IgG is less frequent ( up to 10-18 % of cases)^[1]. IgM levels rises in approximately 60 % of cases. Sufferers may also have a low lymphocyte count and other immunological abnormalities. This can then be followed by cytogenetic and molecular testing to confirm the diagnosis. MRI and CT scans may show signs of cerebellar atrophy.

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