1. My father has been diagnosed with early onset Alzheimer's Disease (AD3). Can my doctor tell if my father has a genetic mutation without a blood test?
No, the symptoms for AD3, sporadic early onset AD, and late onset AD are the same except for the age of onset. You cannot tell whether someone has a genetic
mutation just by looking at their perceived abnormal daily living activities. If there is a strong family history of early onset AD, especially if another family member has been diagnosed with a genetic mutation, your doctor may suspect a genetic problem that may be confirmed by a blood test.
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2. Are there any other genetic tests that will diagnose AD?
The other
genes that have mutations associated with AD3 are PSEN2 and APP (amyloid precursor protein). PSEN2 testing is available, but APP testing is available only in a couple of places in the world at this time. It should be noted that PSEN2 and APP mutations are very rare and have been identified in a very small number of specific family lines.
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