Presenilin 1 Genetics Test

PSEN1 (Presenilin 1) gene is a building block of γ-secretase (“gamma-secretase”). This is a protein that chops up other proteins (protease). The protein, cut by γ-secretase, is rendered less sticky and less prone to aggregation.

Presenilin 1 genetics test is 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).

Positive results of presenilin 1 may indicate higher risk of getting AD3.

Negative results may indicate no AD3. But in some cases, negative PSEN1 genetic mutation analysis also indicate AD3 because the mutation is not able to be identified by the existing testing method and may be due to a different mutation of the PSEN1 gene or a mutation of another gene yet to be identified.

Keywords: presenilin 1 genetics test ; PSEN1

* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.