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Test Code CDGN Congenital Disorders of N-Glycosylation, Serum


Ordering Guidance


This test is for congenital disorders of glycosylation. For evaluation of alcohol abuse, order CDTA / Carbohydrate Deficient Transferrin, Adult, Serum.



Necessary Information


1. Patient’s age is required.

2. Reason for testing is required.



Specimen Required


Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 0.15 mL

Collection Instructions: Centrifuge and aliquot serum into a plastic vial.


Forms

1. Congenital Disorders of Glycosylation (CDG, CDGN, OLIGU) Patient Information

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Useful For

Screening for N-linked congenital disorders of glycosylation

 

Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing

Additional Tests

Test ID Reporting Name Available Separately Always Performed
CDG CDG, S Yes Yes

Testing Algorithm

When this test is ordered, carbohydrate deficient transferrin for congenital disorders will always be performed at an additional charge.

 

For more information see Congenital Disorders of Glycosylation: Screening Algorithm.

Method Name

Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

Reporting Name

CDGN, S

Specimen Type

Serum

Specimen Minimum Volume

0.1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Refrigerated (preferred) 28 days
  Frozen  45 days
  Ambient  7 days

Reference Values

An interpretive report will be provided.

Interpretation

The results of the transferrin and apolipoprotein CIII isoform analysis are followed up with matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry analysis of released N-linked oligosaccharides to assess N-linked glycosylation. Reports of abnormal results will include recommendations for additional biochemical and molecular genetic studies to identify more precisely the specific congenital disorder of glycosylation. If applicable, treatment options, the name and telephone number of contacts who may provide studies, and a telephone number for one of the laboratory directors (if the referring physician has additional questions) will be provided.

Clinical Reference

1. Sparks SE, Krasnewich DM. Congenital disorders of N-linked glycosylation and multiple pathway overview. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2005. Updated January 12, 2017. Accessed March 1, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1332/

2. Chang IJ, He M, Lam CT. Congenital disorders of glycosylation. Ann Transl Med. 2018;6(24):477. doi:10.21037/atm.2018.10.45

3. Francisco R, Marques-da-Silva D, Brasil S, et al. The challenge of CDG diagnosis. Mol Genet Metab. 2019;126(1):1-5. doi:10.1016/j.ymgme.2018.11.003

4. Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet. 2014;94(2):161-175. doi:10.1016/j.ajhg.2013.10.024

5. Verheijen J, Tahata S, Kozicz T, et al. Therapeutic approaches in congenital disorders of glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020;22(2):268-279. doi:10.1038/s41436-019-0647-2

6. Francisco R, Brasil S, Poejo J, et al. Congenital disorders of glycosylation (CDG): state of the art in 2022. Orphanet J Rare Dis. 2023;18(1):329. doi:10.1186/s13023-023-02879-z

Day(s) Performed

Wednesday

Report Available

5 to 11 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

83789

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CDGN CDGN, S In Process

 

Result ID Test Result Name Result LOINC Value
602577 Interpretation 59462-2
BG712 Reason for Referral 42349-1
602576 Reviewed By 18771-6