Test Code CDG Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum
Performing Laboratory
Mayo Clinic Laboratories in RochesterSpecimen Type
SerumOrdering Guidance
This test is for congenital disorders of glycosylation. If the ordering provider is looking for evaluation of alcohol abuse, order CDTA / Carbohydrate Deficient Transferrin, Adult, Serum.
If either PMM2-CDG (CDG-Ia) or MPI-CDG (CDG-Ib) is suspected, order PMMIL / Phosphomannomutase and Phosphomannose Isomerase, Leukocytes.
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: 0.1 mL
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
Specimen Minimum Volume
0.05 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Serum | Frozen (preferred) | 45 days | |
Refrigerated | 28 days | ||
Ambient | 7 days |
Reference Values
Ratio |
Normal |
Indeterminate |
Abnormal |
Transferrin mono-oligo/di-oligo ratio |
≤0.06 |
0.07-0.09 |
≥0.10 |
Transferrin A-oligo/di-oligo ratio |
≤0.011 |
0.012-0.021 |
≥0.022 |
Transferrin tri-sialo/di-oligo ratio |
≤0.05 |
0.06-0.12 |
≥0.13 |
Apo CIII-1/Apo CIII-2 ratio |
≤2.91 |
2.92-3.68 |
≥3.69 |
Apo CIII-0/Apo CIII-2 ratio |
≤0.48 |
0.49-0.68 |
≥0.69 |
Day(s) Performed
Monday, Thursday
CPT Code Information
82373
Report Available
3 to 6 daysSpecimen Retention Time
1 monthReject Due To
Gross hemolysis | OK |
Gross lipemia | OK |
Gross icterus | OK |
Genetics Test Information
This testing is used to screen patients for suspected congenital disorders of glycosylation (N- and O-glycosylation defects as well as glycan structure analysis).
Congenital disorders of glycosylation (CDG) encompass over 150 genetic conditions spanning a broad clinical spectrum.
The main CDG profiles that can be identified by this analysis are type I, some type II, and mixed type CDG.