EPISODIC ATAXIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Episodic Ataxia Panel analyzes six genes associated with neurological disorders characterized by recurrent and transient episodes of motor incoordination, vertigo, dysarthria, and nystagmus, which can be triggered by stress, exercise, fever, or alcohol consumption. These ataxias can occur alone or in conjunction with epilepsy, hemiplegic migraine, or myotonia, depending on the affected gene. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies pathogenic variants in genes involved in neuronal channelopathy and synaptic neurotransmission, such as CACNA1A, KCNA1, CACNB4, ATP1A3, SCN2A, and SLC1A3.
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