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Congenital Disorders of Glycosylation, Type If (CDG If) via the MPDU1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
MPDU1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8735MPDU181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Hongjie Chen

Clinical Features and Genetics

Clinical Features

Congenital disorders of glycosylation (CDGs) are a clinically heterogeneous group of inborn errors of metabolism that are characterized by defects in protein or lipid glycosylation, a form of post-translational modification. These disorders can be further differentiated into several categories depending upon what part of the glycosylation pathway has been disrupted: protein N-linked protein glycosylation defects, which are the most common; O-linked protein glycosylation defects; glycolipid and glycosylphosphatidylinositol (GPI) anchor defects; or multi-pathway defects (Brasil et al. 2018. PubMed ID: 29702557; Jaeken. 2017. PubMed ID: 28484880; Scott et al. 2014. PubMed ID: 24831587). As defective glycosylation negatively impacts a wide variety of cellular processes, most of these diseases are multi-systemic and early onset in nature.

Only a few cases of CDG type If, an N-linked glycosylation defect, have been reported to date. All individuals presented with initial symptoms during the neonatal or infantile period (Kranz et al. 2001. PubMed ID: 11733556; Schenk et al. 2001. PubMed ID: 11733564; Bastaki et al. 2018. PubMed ID: 28940310; Thiel et al. 2018. PubMed ID: 29721919). Primary clinical features for this disorder include hypotonia, seizures, ichthyosiform changes to the skin, psychomotor retardation, and optical findings such as strabismus or optic atrophy. A subset of patients presented with additional phenotypes, which included brain abnormalities (such as cerebral atrophy), gastrointestinal problems (abdominal pain, vomiting, diarrhea), and/or cardiomyopathy.


Congenital disorder of glycosylation (CDG) type If exhibits autosomal recessive inheritance. MPDU1 is a protein involved in the biosynthesis of dolichylpyrophosphate-linked oligosaccharide (Kranz et al. 2001. PubMed ID: 11733556). Specifically, the MPDU1 gene encodes a protein termed ‘mannose phosphate dolichol utilization defect 1,’ which is required for efficient use of dolichol- P-mannose within this pathway, although the exact molecular mechanism is yet unclear. Several pathogenic MPDU1 missense pathogenic variants and a single base deletion have been reported to date.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the low incidence of this disorder, clinical sensitivity cannot be estimated at this time. There have been no reported large deletions or insertions in this gene to date (Human Gene Mutation Database). Analytical sensitivity should be high as reported pathogenic variants are detectable by sequencing.

Testing Strategy

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV-calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

This test provides full coverage of all coding exons of the MPDU1 gene plus 10 bases of flanking noncoding DNA in all available transcripts, along with other non-coding regions where pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Individuals with clinical symptoms consistent with congenital disorder of glycosylation (CDG) type If and/or patients with accumulation of excess Man9GlcNAc2 lipid-linked oligosaccharide in cultured fibroblasts are good candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MPDU1.


Official Gene Symbol OMIM ID
MPDU1 604041
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Congenital Disorder Of Glycosylation Type 1F AR 609180


  • Bastaki et al. 2018. PubMed ID: 28940310
  • Brasil et al. 2018. PubMed ID: 29702557
  • Human Gene Mutation Database (Biobase).
  • Jaeken. 2017. PubMed ID: 28484880
  • Kranz et al. 2001. PubMed ID: 11733556
  • Schenk et al. 2001. PubMed ID: 11733564
  • Scott et al. 2014. PubMed ID: 24831587
  • Thiel et al. 2018. PubMed ID: 29721919


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

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2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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