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HelpTest Code LAB1231820 Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Reporting Name
CDG, SSpecimen 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 preferred.
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.
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Serum | Frozen (preferred) | 45 days |
| Refrigerated | 28 days | |
| Ambient | 7 days |
Specimen Minimum Volume
0.05 mL
Special Instructions
Day(s) Performed
Monday, Thursday
Specimen Retention Time
1 monthReport Available
3 to 6 daysReference 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 |
Useful For
Screening for congenital disorders of glycosylation
This test is not useful for screening patients for chronic alcohol abuse.
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.
CPT Code Information
82373
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CDG | CDG, S | 90417-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| BG160 | Reason for Referral | 42349-1 |
| 31721 | Mono-oligo/Di-oligo Ratio | 35469-6 |
| 31720 | A-oligo/Di-oligo Ratio | 35475-3 |
| 34474 | Tri-sialo/Di-oligo Ratio | 90420-1 |
| 34476 | Apo CIII-1/Apo CIII-2 Ratio | 90421-9 |
| 34475 | Apo CIII-0/Apo CIII-2 Ratio | 90419-3 |
| 50820 | Interpretation | 53808-2 |
| 50822 | Reviewed By | 18771-6 |
Forms
1. Congenital Disorders of Glycosylation Patient Information
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
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.