GLUT1; GLUT; HTLVR
The SLC2A1 gene is associated with autosomal dominant and autosomal recessive GLUT1-deficiency (MedGen UIDs: 330866, 460468). Additional SLC2A1-related conditions have also been reported (OMIM: 138140).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in the SLC2A1 gene are associated with an estimated 10% of clinical cases of early onset absence epilepsy (idiopathic generalized epilepsy). In addition, pathogenic variants in SLC2A1 are the only known cause of GLUT1-deficiency syndrome.
Glucose is an essential source of energy for most cell types in the body. The SLC2A1 gene encodes a glucose transporter that is expressed in the central nervous system and mediates uptake of glucose from the extracellular environment, transporting it into the cell.
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|