ALZHEIMER'S AND DEMENTIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 68 genes

The Alzheimer's and Dementia panel analyzes 68 genes implicated in a broad spectrum of inherited neurodegenerative disorders characterized by progressive cognitive decline, memory loss, behavioral and language disturbances, and motor or extrapyramidal dysfunction. This panel covers the major genetic forms of early- and late-onset Alzheimer's disease, frontotemporal dementias (FTD), CADASIL and other inherited vasculopathies, Parkinson's disease with dementia, leukoencephalopathies, multiple system atrophies, and mitochondrial encephalopathies with cognitive impairment. Next-generation sequencing (NGS) allows the detection of single-cell variants (SNVs), indels, and single-cell variants (CNVs) in key genes involved in the production, processing, and clearance of β-amyloid (APP, PSEN1, PSEN2, APOE), neuronal dynamics and metabolism (MAPT, GRN, TREM2, SQSTM1), and lysosomal and mitochondrial homeostasis (CHCHD10, VCP, ATP13A2, GBA, OPTN). Identifying pathogenic variants in these genes is essential for accurate diagnosis, family genetic counseling, and defining clinical prognosis. Some of the genes included are APP, PSEN1, PSEN2, APOE, GRN, MAPT, TREM2, PRNP, CHMP2B, VCP, and DNMT1, among others. A complete list of genes can be obtained by contacting Genotica.