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MPDU1

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  2. MPDU1
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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
  • Request a sample kit
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Overview

Alias

CDGIF; HBEBP2BPA; Lec35; My008; PP3958; PQLC5; SL15

Associated disorders

MPDU1 is associated with autosomal recessive MPDU1-congenital disorder of glycosylation (CDG-If) (MedGen UID 322968).

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MPDU1

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Invitae tests that include this gene:

Invitae Congenital Disorders of Glycosylation Panel 49 genes

Invitae Metabolic Disorders Newborn Screening Confirmation Panel up to 192 genes

MPDU1-CDG (CDG-If) is a rare cause of congenital disorders of glycosylation, and the percentage of cases attributed to pathogenic variants in MPDU1 is unknown.

The MPDU1 gene encodes the Man-P-dolichol utilizing defect 1 (MPDU1) protein, a protein whose function is not completely understood. MPDU1 protein is thought to play a role in the lateral distribution of dolichol-P-mannose and dolichol-P-glucose within the lumenal side of the ER membrane, a process important for glycosylation of N-glycans (PMID: 11733564).

  1. Schenk, B, et al. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J. Clin. Invest. 2001; 108(11):1687-95. PMID: 11733564

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
MPDU1 NM_004870.3
Clinical resources
Metabolic disorders and newborn screening gene list Invitae brochure Metabolic disorders and newborn screening analytes table
Patient resources
Patient guide: Genetic testing simplified
Test information
Specimen requirements page Forms page

References

  1. Schenk, B, et al. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J. Clin. Invest. 2001; 108(11):1687-95. PMID: 11733564

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