Congenital Disorders of Glycosylation (CDG) Panel (Types Id, Ie, If, Ig, Ih, Ii)
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 10603 | Genes x (6) | 81479 | 81479(x12) | $990 | Order Options and Pricing |
Pricing Comments
We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available.
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).
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.
Clinical Features and Genetics
Clinical Features
Congenital disorders of glycosylation (CDG) are a genetically heterogeneous group of disorders caused by defective synthesis of asparagine (N)-linked glycans. Abnormalities in these glycoconjugates result in disturbed metabolism, cell recognition, cell adhesion, protease resistance, host defense, cell migration, and antigenicity (Marquardt and Denecke. Eur J Pediat 162:359-379, 2003). Consequently, clinical presentations are characterized by multisystem involvement. Psychomotor retardation is a finding of all CDG types in this panel except CDG Ih (Chantret et al. J Biol Chem 278:9962-9971, 2003). Patients with CDG Ih demonstrate life-threatening GI findings (Schollen et al. J Med Genet 41:550-556, 2004) and lack facial dysmorphism, which has been reported for types Id (Denecke et al. Pediat Res 58:248-253, 2005), Ie (Kim et al. J Clin Invest 105:191-198, 2000), and Ig (Chantret et al. J Biol Chem 277:25815-25822, 2002). Vision impairment and seizures are reported for cases of type Id (Denecke et al. 2005), Ie (Kim et al. 2000), If (Kranz et al. J Clin Invest 108:1613-1619, 2003), and Ii (Thiel et al. J Biol Chem 278:22498-22505, 2003). Microcephaly is reported for cases of type Ie (Imbach et al. J Clin Invest 105:233-239, 2000) and Ig (Chantret et al. 2002). Congenital hypotonia, contractures, or both are noted in cases of types Id (Denecke et al. 2005), Ie (Kim et al. 2000), and If (Kranz et al. 2003). Recurrent infections have been reported in patients with type Ie (Imbach et al. 2000) and Ig (Chantret et al. 2002).
Genetics
CDGs exhibit autosomal recessive inheritance. Missense, nonsense, small deletions, and splice site variants have been reported for the genes in this panel.
Clinical Sensitivity - Sequencing with CNV PGxome
Each of these disorders has been described in only a small number of patients. Therefore, clinical sensitivity cannot be estimated.
Testing Strategy
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel provides 100% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
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 and biochemical findings consistent with CDG.
Individuals with clinical and biochemical findings consistent with CDG.
Genes
| Official Gene Symbol | OMIM ID |
|---|---|
| ALG12 | 607144 |
| ALG2 | 607905 |
| ALG3 | 608750 |
| ALG8 | 608103 |
| DPM1 | 603503 |
| MPDU1 | 604041 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
Related Test
| Name |
|---|
| PGxome® |
Citations
- Chantret, I., et.al. (2002). "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase." J Biol Chem 277(28): 25815-22. PubMed ID: 11983712
- Chantret, I., et.al. (2003). "A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation." J Biol Chem 278(11): 9962-71. PubMed ID: 12480927
- Denecke, J., et.al. (2005). "Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins." Pediatr Res 58(2): 248-53. PubMed ID: 16006436
- Imbach, T., et.al. (2000). "Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie." J Clin Invest 105(2): 233-9. PubMed ID: 10642602
- Kim, S., et.al. (2000). "Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)." J Clin Invest 105(2): 191-8. PubMed ID: 10642597
- Kranz, C., et.al. (2001). "A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)." J Clin Invest 108(11): 1613-9. PubMed ID: 11733556
- Marquardt, T., Denecke, J. (2003). "Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies." Eur J Pediatr 162(6): 359-79. PubMed ID: 12756558
- Schollen, E., et.al. (2004). "Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)." J Med Genet 41(7): 550-6. PubMed ID: 15235028
- Thiel, C., et.al. (2003). "A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis." J Biol Chem 278(25): 22498-505. PubMed ID: 12684507
Ordering/Specimens
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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ORDER OPTIONS
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2) Select Additional Test Options
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