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HelpTest Code CDGN Congenital Disorders of N-Glycosylation, Serum
Reporting Name
CDGN, SPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Screening for N-linked congenital disorders of glycosylation
Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing
Method Name
Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)
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.
Specimen Type
SerumSpecimen 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 |
Reject Due To
| Gross hemolysis | Reject |
| Gross lipemia | OK |
| Gross icterus | OK |
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.
Day(s) Performed
Wednesday
Report Available
5 to 11 daysTest 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 |
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.
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.