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Genetic Testing for Alzheimer Disease

Targeted genetic testing for a known familial variant in the presenilin (PSEN) genes or amyloid-beta precursor protein (APP) gene associated with autosomal dominant early-onset Alzheimer disease may be considered medically necessary in an asymptomatic individual to determine future risk of disease when the following criteria are met:

The individual has a close relative (ie, first- or second-degree relative) with a known familial variant associated with autosomal dominant early-onset Alzheimer disease (see Policy Guidelines) AND

Results of testing will inform reproductive decision making.

Genetic testing for variants in presenilin (PSEN) genes or amyloid-beta precursor protein (APP) gene associated with autosomal dominant early-onset Alzheimer disease may be considered medically necessary in an asymptomatic individual to determine future risk of disease when the following criteria are met:

The individual has a family history of dementia consistent with autosomal dominant Alzheimer disease for whom the genetic status of the affected family members is unavailable AND

Results of testing will inform reproductive decision making.

Genetic testing for the risk assessment of Alzheimer disease in asymptomatic individuals is considered investigational in all other situations. Genetic testing includes but is not limited to, testing for the apolipoprotein E (APOE) epsilon 4 allele or triggering receptor expressed on myeloid cells 2 (TREM2).

Genetic testing to guide initiation or management of a U.S. Food and Drug Administration-approved amyloid-beta targeting therapy (eg, aducanumab) is considered investigational. Genetic testing includes but is not limited to, testing for the APOE epsilon 4 allele.

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