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In page Ataxia–telangiectasia:

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Looking for mutations in the ATM gene of an unrelated person (for example, the spouse of a known A–T carrier) presents significant challenges. Genes often have variant spellings (polymorphisms) that do not affect function. In a gene as large as ATM, such variant spellings are likely to occur, and doctors cannot always predict whether a specific variant will cause disease. Genetic counseling can help family members of an A–T patient understand what can or cannot be tested, and how the test results should be interpreted.[citation needed]