
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Ataxia telangiectasia laboratory findings
Introduction
Laboratory Findings
Laboratory Findings
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 10-18Â % of cases)[1]. IgM levels rises in approximately 60Â % 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.
References
References
- ↑ https://www.frontiersin.org/articles/10.3389/fimmu.2019.02940/full#B13. Missing or empty
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
