NEUROMUSCULAR CHANNELOPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 47 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Neuromuscular Channelopathies panel analyzes 47 genes associated with inherited disorders affecting muscle membrane excitability and neuromuscular transmission, caused by alterations in ion channels or components of the neuromuscular junction. These pathologies include congenital myotonias, periodic paralysis, congenital myasthenic syndromes, calcium or sodium channel myopathies, and myoclonic epilepsies with muscle involvement. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies mutations that alter the function of sodium (SCN1A, SCN4A, SCN8A), potassium (KCNJ2, KCNQ2), chloride (CLCN1), or calcium (CACNA1A, CACNA1S) channels, as well as genes involved in the neuromuscular synapse (CHRNE, CHRNB1, AGRN). The complete list of genes can be obtained by contacting Genotica.
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