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Test ID BLOD1218 Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

Reporting Name

CDG, S

Useful For

Screening for congenital disorders of glycosylation

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

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 (PMM) and Phosphomannose Isomerase (PMI), 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


Specimen Minimum Volume

0.05 mL

Specimen Stability Information

Specimen Type Temperature Time
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) and Time(s) Performed

Monday, Thursday; 8 a.m.

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

Analytic Time

5 days (Not reported Saturday or Sunday)

Reject Due To

Hemolysis

Mild OK; Gross reject

Lipemia

Mild OK; Gross OK

Icterus

Mild OK; Gross OK

Other

NA

Method Name

Affinity Chromatography-Mass Spectrometry (MS)

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.

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)

PLINK / PNH, PI-Linked Antigen, Blood

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 Instruction.