Associated disorders

The SLC25A22 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGenUID: 124373).

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Pathogenic variants in the SLC25A22 gene are a rare cause of clinical cases of early infantile epileptic encephalopathy (EIEE).

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 SLC25A22 gene encodes a glutamate carrier that transports glutamate into the mitochondria 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
SLC25A22 NM_024698.5