Associated disorders

The SCN4A gene is associated with autosomal dominant hyperkalemic periodic paralysis (HYPP) (MedGen UID: 442147), hypokalemic periodic paralysis (HOKPP) (MedGen UID: 811387), and paramyotonia congenita (PMC) (MedGen UID: 358367). Additionally, the SCN4A gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 16 (CMS16) (OMIM: 614198). Other SCN4A-related conditions have also been reported (OMIM: 603967).

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The proportion of CMS contributed by SCN4A is unknown.

SCN4A encodes the voltage-gated sodium channel alpha subunit protein. SCN4A is required for voltage-dependent sodium ion permeability of the postsynaptic membrane and thus for generation and propagation of action potentials.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
SCN4A NM_000334.4