CSE; DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN
The SLC2A1 gene is associated with autosomal dominant glucose transporter type 1 (GLUT1) deficiency syndrome (PMID: 19304421, 15132717, 23443458).
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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
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|