Ritka mutáció keresése a PSEN1génben, amelyről ismert, hogy összefügg a családi halmozódású korai Alzheimer-kórral (EOFAD vagy 3-as típusú Alzheimer-kór)
Ha egy felnőtt ember demencia tüneteit mutatja, és családjában halmozottan fordul elő 60-65 éves kor előtt kezdődő Alzheimer-kór, illetve tünetmentes felnőtt ember esetében, ha egy családtagjának PSEN1-mutációra pozitív korai Alzheimer-kórja van.
A kar könyökhajlati vénájából vett vérmintára vagy szájnyálkahártya-törletre.
Nincs szükség előkészületre.
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Conditions
https://www.nia.nih.gov/health/alzheimers
https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/in-depth/alzh…
https://www.alz.org/alzheimers-dementia/what-is-alzheimers
https://www.alzheimersreadingroom.com/2011/04/alzheimers-genes-four-known-alzhe…