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HelpTest Code CDG Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum
Reporting Name
CDG, SUseful 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.
Method Name
Affinity Chromatography-Mass Spectrometry (MS)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen 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 |
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Special Instructions
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
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 |
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.Report Available
3 to 6 daysNY State Approved
YesForms
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.