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HelpTest Code CDG Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum
Ordering 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.
CMH COLLECTION: 2 mL in red gel vacutainer
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 |
Testing Algorithm
Suggested Testing Strategy:
|
Disorder |
Target |
Mayo Test ID |
|
N-glycan, core 1 mucin type O-glycosylation, and conserved oligomeric Golgi (COG) complex defects |
Transferrin, apolipoprotein CIII |
CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum |
|
N-glycan, core 1 mucin type O-glycosylation, and COG complex defects |
Serum total N-linked glycans, transferrin, and apolipoprotein CIII |
CDGN / Congenital Disorders of N-Glycosylation, Serum (includes test ID CDG) Stepwise analysis of transferrin, apolipoprotein CIII, and serum total N-glycans |
|
alpha-dystroglycanopathies, GPI anchor disorders |
Genes: DAG1, FKRP, FKTN, ISPD, LARGE1, POMGNT1, POMGNT2, POMT1, POMT2 PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PGAP2, PGAP3 |
CDGGP / Congenital Disorders of Glycosylation Gene Panel, Varies |
For more information see:
Congenital Disorders of Glycosylation: Screening Algorithm
Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.
Useful For
Screening for congenital disorders of glycosylation
This test is not useful for screening patients for chronic alcohol abuse.
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Day(s) Performed
Monday, Thursday
Report Available
3 to 6 daysReporting Name
CDG, SReference 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 |
Method Name
Affinity Chromatography-Mass Spectrometry (MS)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82373