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

Useful For

Screening for congenital disorders of glycosylation

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

Reject Due To

Hemolysis

Mild OK; Gross OK

Lipemia

Mild OK; Gross OK

Icterus

Mild OK; Gross OK

Other

NA

Specimen Stability Information

Specimen Type Temperature Time
Serum Frozen (preferred) 45 days
  Refrigerated  28 days
  Ambient  7 days

Day(s) and Time(s) Performed

Monday, Thursday; 8 a.m.

Analytic Time

5 days (Not reported Saturday or Sunday)

Method Name

Affinity Chromatography-Mass Spectrometry (MS)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82373

Reporting Name

CDG, S

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

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.

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.

Sanford Laboratories - Fargo Additional Information:

SANFORD INTERFACE BUILD INFORMATION

Result Code Result Code Description
13419 Reason for Referral
13421 Mono-Oligo/DI-Oligo Ratio
13422 A-Oligo/DI-Oligo Ratio
16123 TRI-SIALO-DI-Oligo Ratio
16124 APO CIII-1/CIII-2 Ratio
16125 APO CII-0/APO CIII-2 Ratio
13423 Interpretation
13425 Reviewed By