NERVOUS SYSTEM CHANNELOPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 49 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Nervous System Channelopathies panel analyzes 49 genes involved in inherited neurological disorders caused by alterations in sodium, potassium, calcium, or chloride ion channels, which are essential for neuronal excitability, synaptic transmission, and muscle contraction. These pathologies include familial epilepsies, hemiplegic migraines, periodic paralysis, congenital myotonia, sensory neuropathies, chronic pain syndromes, and channelopathies. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of pathogenic variants that alter ion channel function, affecting nerve conduction and muscle activity. Among the most relevant genes included are SCN1A, SCN2A, KCNQ2, CACNA1A, CLCN1, KCNA1, RYR1, and TRPV4, among others. The complete list of genes can be obtained by contacting Genotica.
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