Associated disorders

The DPAGT1 gene is associated with autosomal recessive DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 334113) and congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559).

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DPAGT1 is a rare cause of congenital myasthenic syndrome and congenital disorders of glycosylation, and the percentage of cases attributed to pathogenic variants in DPAGT1 is unknown.

DPAGT1 encodes the enzyme GlcNAc-1-P transferase, which catalyzes the first step in the dolichol cycle. The dolichol-linked sugars required for N-linked glycosylation are derived from this cycle.

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
DPAGT1 NM_001382.3