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 Gene CPT Codes Copy CPT Codes
10603 ALG12 81479,81479 Order Options and Pricing
ALG2 81479,81479
ALG3 81479,81479
ALG8 81479,81479
DPM1 81479,81479
MPDU1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10603Genes x (6)81479 81479 $890 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.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

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

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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