Associated disorders

The CACNA1S gene is associated with autosomal dominant malignant hyperthermia susceptibility (MHS) (MedGen UID: 418958) and autosomal dominant hypokalemic periodic paralysis (HOKPP) (MedGen UID: 468371).

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Pathogenic variants in CACNA1S cause an estimated 1% of MHS and 60% of HOKPP.

The CACNA1S gene encodes the calcium channel, voltage dependent, L type, alpha 1S subunit. This protein is part of a channel that transports calcium ions across cell membranes. Pathogenic variants in CACNA1S can lead to the dysregulation of intracellular calcium levels.

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
CACNA1S NM_000069.2