FRONTOTEMPORAL DEMENTIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 20 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Frontotemporal Dementia (FTD) panel analyzes 20 genes associated with a group of neurodegenerative disorders characterized by the progressive degeneration of the frontal and temporal lobes of the brain. Clinical manifestations include behavioral changes, language impairment, cognitive decline, and motor symptoms, and may overlap with diseases such as amyotrophic lateral sclerosis (ALS) or Parkinson's disease. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies variants in genes involved in protein degradation, neuronal homeostasis, mitochondrial function, and abnormal protein aggregation. Among the most relevant genes included are MAPT, GRN, C9orf72 (complementary expansions), TARDBP, FUS, TBK1, SQSTM1, VCP, and TREM2, among others. The complete list of genes can be obtained by contacting Genotica.