medium · NCLEX-RN health-promotion
A 35-year-old client receives a genetic report indicating 41 CAG repeats in her HTT gene. She asks the nurse, 'Does this mean I might get the disease, or is it guaranteed?' How should the nurse interpret these findings for the client?
- A CAG repeat count of 40 or more represents full penetrance, meaning you will develop the disease if you live a normal lifespan.
- A count of 41 repeats means you have a 50% chance of developing symptoms in your lifetime.
- A repeat count of 41 indicates a premutation status, meaning you are a carrier but will remain asymptomatic, in this situation.
- Environmental modifications, strict nutrition, and a healthy lifestyle can prevent the gene from being expressed, for this client.
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