CHOREOATHETOSIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Choreoathetosis Panel analyzes six genes involved in movement disorders characterized by a combination of choreic (abrupt and irregular) and athetoid (slow and writhing) movements. These disorders can occur as part of inherited neuromotor syndromes or be associated with epilepsy, psychomotor delay, and metabolic disorders. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies genetic alterations in key genes for neurotransmission and neuronal excitability, including ADCY5, PRRT2, SLC2A1, NKX2-1, HSD17B10, and MR1. This analysis facilitates differential diagnosis with other inherited dyskinesias, optimizing clinical and genetic management of the family. The complete list of genes can be obtained by contacting Genotica.
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