Ataxia telangiectasia laboratory findings: Difference between revisions
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== 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. 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. | 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]]. 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 == | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Needs overview]] | |||
[[Category:Disease]] | |||
[[Category:Neurology]] | |||
[[Category:Genetic disorders]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} |
Revision as of 15:15, 29 November 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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. 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.