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Cascade testing

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Cascade testing

Cascade testing or screening is a mechanism for identifying people at risk of a genetic condition.

Once a gene change is confirmed in a clinically diagnosed individual, first and second degree relatives are approached. Family members are informed about their possible risk and offered information, after which they can decide whether to undergo testing. If relatives test positive, their first and second degree relatives are approached and offered testing, and so on. Relatives are only tested for the gene change found in the index patient. Targeted cascade screening aims to provide a greater rate of case identification than general population screening

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