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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
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ALG13

Alias

CDG1S; CXorf45; EIEE36; GLT28D1; MDS031; TDRD13; YGL047W

Associated disorders

The ALG13 gene is associated with the X-linked congenital disorder of glycosylation ALG13-CDG (CDG-Is) (MedGen UID 763818).

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ALG13

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Invitae tests that include this gene:

ALG13-CDG (CDG-Is) is a rare cause of congenital disorders of glycosylation, and the percentage of cases attributed to pathogenic variants in ALG13 is unknown.

ALG13 encodes a component of the UDP-GlcNAc transferase, which catalyzes the second step of N-linked glycosylation in the endoplasmic reticulum (PMID: 22492991).

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 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
ALG13 NM_001257230.1; NM_001099922.2