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PSEN1

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Also known as: PS1; PS-1; Presenilin 1 Gene; S182
Formal name: PS1 or PSEN1 Genetic Mutation Analysis
Related tests: APOE Genotyping; Tau/Aß42; PSEN2; Amyloid Precursor Protein (APP)

At a Glance

Why Get Tested?

To screen for a rare mutation in the PSEN1 gene known to be associated with early onset familial Alzheimer disease (EOFAD, also called Alzheimer disease type 3 or AD3)

When to Get Tested?

When you are an adult who has symptoms of dementia and a strong family history of Alzheimer disease that begins before age 60-65 or if you are an asymptomatic adult with a family member who has early onset Alzheimer disease and an identified PSEN1 genetic mutation

Sample Required?

A blood sample drawn from a vein in your arm

Test Preparation Needed?

None