Associated disorders

The SLC25A20 gene is associated with autosomal recessive carnitine-acylcarnitine translocase deficiency (MedGen UID: 91000).

Order single gene


Order this gene as a single gene test.

Order a test

Invitae tests that include this gene:

Pathogenic variants in the SLC25A20 gene are the only known cause of carnitine-acylcarnitine translocase deficiency.

The SLC25A20 gene encodes the carnitine-acylcarnitine translocase, which mediates the transport of long chain acylcarnitine species across the mitochondrial inner membrane into the mitochondrial matrix. This process is necessary to transport long chain fatty acids, in the form of acylcarnitines, into the mitochondria where they can be broken down by the fatty acid oxidation pathway.

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
SLC25A20 NM_000387.5