Associated disorders

The SLC25A12 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (EIEE).

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Invitae tests that include this gene:

Invitae Epilepsy Panel up to 103 genes

Mitochondria are specialized organelles that produce much of the cell’s energy. Mitochondrial carriers are a group of proteins that transport metabolites and other compounds across the mitochondrial membrane, between the mitochondria and the cytosol. The SLC25A12 gene encodes an aspartate / glutamate carrier that transports these compounds into the cytosol for use in metabolic reactions.

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
SLC25A12 NM_003705.4