DEMENTIA AND ALZHEIMER'S: CLINICAL EXOME PANEL (Sec. & CNVs) – 68 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Dementia and Alzheimer's Panel analyzes 68 genes associated with inherited neurodegenerative disorders that cause progressive cognitive decline, behavioral changes, and memory loss. It includes genes related to familial Alzheimer's disease, frontotemporal dementia, Lewy body dementia, and genetic forms of parkinsonism and degenerative encephalopathies. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies pathogenic variants in genes involved in amyloid-beta peptide processing (APP, PSEN1, PSEN2), lipid and vesicular homeostasis (APOE, SORL1, ABCA7), protein aggregation (MAPT, TREM2, GRN, TARDBP, FUS), and lysosomal or mitochondrial function (GBA, OPTN, VCP, TBK1). Its application facilitates accurate molecular diagnosis, genetic counseling, and familial risk stratification.
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