• 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
  • Request a sample kit



CDG1G; ECM39; PP14673; hALG12

Associated disorders

ALG12 is associated with autosomal recessive ALG12-congenital disorder of glycosylation (CDG-Ig) (MedGen UID 375947).

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Invitae tests that include this gene:

ALG12-CDG (CDG-Ig) is a rare cause of congenital disorders of glycosylation, and the percentage of cases attributed to pathogenic variants in ALG12 is unknown.

ALG12 encodes the Dol-P-Man dependent Alpha-1,6-Mannosyltransferase which catalyzes the addition of the eighth mannose residue onto the lipid-linked oligosaccharide precursor (LLO) during the synthesis of complex oligosaccharide-linked glycoproteins (PMID:12217961).

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
ALG12 NM_024105.3