Alzheimer’s disease (APP)
Analysis ID 101
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Alzheimer’s disease (APP)
OMIM #104300
Clinical information Alzheimer disease is a slowly progressive dementia, which begins in adult life (usually after 65th years of age). Clinical symptoms result from extensive cerebral cortex atrophy. Disease lasts approximately from 5 to 12 years. This is the most common cause of dementia in human population. Approximately 98% cases comprise a late form of disease (after 65 years of age). Rarely, (in 2% cases) the disease occurs under the age of 65 years (so called Early-Onset Alzheimer Disease, EOAD), and is than caused by mutations in the presenillin genes (PSEN1 and PSEN2) or beta-amyloid gene (APP). In 20-70% of EOAD the disease is caused by PSEN1 mutations, in 10-16% by APP mutations, and sporadically by PSEN2 mutations.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in EDTA tube
Analyzed genes APP (exon 17)
Analysis description
Analysis indication Clinical suspicion of early-onset Alzheimer disease
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics and Oncology