Hereditary Chorea: Clinical Exome Panel (Sec. & CNVs) – 26 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hereditary Chorea Panel analyzes 26 genes involved in movement disorders characterized by involuntary, irregular, and jerky movements, associated with heterogeneous genetic causes including neurodegenerative diseases, metabolic disorders, and neuronal channelopathies. This panel covers autosomal dominant, recessive, and X-linked hereditary forms, such as atypical Huntington's chorea, benign familial choreas, neuroacanthocytosis, and choreas secondary to metabolic or mitochondrial defects. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the study identifies pathogenic variants in genes related to dopaminergic transmission, iron metabolism, and synaptic function, such as ADCY5, NKX2-1, ATP7B, PRNP, PLA2G6, PANK2, and SLC2A1, among others. The complete list of genes can be obtained by contacting Genotica.
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