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In page Ataxia–telangiectasia:
"The diagnosis can be confirmed in the laboratory by finding an absence or deficiency of the ATM protein in cultured blood cells,[2][3] an absence or deficiency of ATM function (kinase assay), or mutations in both copies of the cell's ATM gene. These more specialized tests are not always needed, but are particularly helpful if a child's symptoms are atypical.[citation needed]
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