CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT; UGT1; UGT2; UGTL
The SLC35A2 gene is associated with the X-linked dominant congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm) (MedGen UID 813018).
Order this gene as a single gene test.
Invitae tests that include this gene:
SLC35A2-CDG (CDG-IIm) is a rare cause of congenital disorders of glycosylation, and the percentage of cases attributed to pathogenic variants in SLC35A2 is unknown.
Protein localization and function in the cell is profoundly influenced by post-translational modifications. One type of modification is glycosylation, or the addition of sugar moieties. Glycosylation is carried out in two related organelles – the Golgi apparatus and the endoplasmic reticulum (ER). The SLC35A2 gene encodes a transporter that brings UDP-galactose, a cofactor in protein glycosylation, into the Golgi and ER lumen.
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|