According to guidelines from the American College of Medical Genetics and the National Society of Genetic Counselors, testing for the APP and PSEN genes associated with early-onset autosomal dominant Alzheimer's disease should be offered in these clinical scenarios:
In symptomatic patients with early-onset Alzheimer's disease who have either a family history of dementia or an unknown family history (eg, because of adoption)
In patients with a family history of autosomal dominant dementia including one or more cases of early-onset Alzheimer's disease
In relatives of patients with a mutation consistent with early-onset Alzheimer's disease (PS-1, PS-2, and APP)
Learn more about genetic testing in Alzheimer's disease.
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Cite this: Jasvinder P. Chawla, Shaheen E. Lakhan. Fast Five Quiz: Alzheimer's Disease Workup - Medscape - Sep 08, 2023.