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Test Code CDG Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum


Advisory Information


This test is for congenital disorders of glycosylation. If the ordering physician 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 referral is required.



Specimen Required


Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 0.1 mL


Forms

1. Biochemical Genetics Patient Information (T602) in Special Instructions.

2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

Useful For

Screening for congenital disorders of glycosylation

Method Name

Affinity Chromatography-Mass Spectrometry (MS)

Reporting Name

CDG, S

Specimen Type

Serum

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

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) and Time(s) Performed

Tuesday; 8 a.m.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

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

Testing Algorithm

Suggested Testing Strategy:

Disorder

Target

Mayo Test

N-glycan, O-glycan, and conserved oligomeric Golgi (COG) complex defects

Transferrin, apolipoprotein CIII

CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

N-glycan, O-glycan, and COG complex defects

Serum total N-linked glycans, transferrin, and apolipoprotein CIII

CDGN / Congenital Disorders of N-Glycosylation, Serum

glycophosphatidylinositol (GPI)-anchored protein glycosylation disorders

CD59, CD55, CD16b, ALP, and aerolysin (FLAER)

Testing may be available on a research basis for these disorders. Contact a BGL genetic counselor for more information.

alpha-dystroglycanopathies

Genes: DAG1, FKRP, FKTN, ISPD, LARGE1, POMGNT1, POMGNT2, POMT1, POMT2

CDGNP / CDG Normal Transferrin Panel

 

See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instructions.