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  • Preferred specimen:
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  • Alternate specimens:
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CACNA1S

Alias

CACNL1A3; CCHL1A3; Cav1.1; HOKPP; HOKPP1; MHS5; TTPP1; hypoPP

Associated disorders

The CACNA1S gene is associated with autosomal dominant hypokalemic periodic paralysis 1 (HOKPP1) (MedGen UID: 811387) and autosomal dominant malignant hyperthermia susceptibility (MHS) (MedGen UID: 418958).

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CACNA1S

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Invitae tests that include this gene:

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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