Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives.

Abstract excerpt

In mutation testing for Huntington disease, an autosomal dominant hereditary late-onset disorder, unfavourable test outcomes in at-risk individuals provide important information about other family members at risk. On the other hand, common counselling practice considers favourable outcomes as non-informative for at-risk relatives, except for the offspring of the tested individual. We shall show, however, that...

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