Associated disorders

The CACNA2D2 gene is associated with early infantile epileptic encephalopathy (EIEE).

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Pathogenic variants in the CACNA2D2 gene are a rare cause of clinical cases of early infantile epileptic encephalopathy (EIEE).

Voltage-gated calcium channels allow calcium ions into neurons after the application of a current, as in the case of neuron firing (depolarization). The CACNA2D2 gene encodes an alpha-2/delta subunit of a voltage-gated calcium channel that is required for neurotransmitter release at synapses. This channel is also found on lysosomal membranes, where it is required for fusion with endosomes and autophagosomes for normal protein turnover.

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
CACNA2D2 NM_006030.3