Sign in →

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

Additional Codes

Mayo Test Code: CDG

Reporting Name

CDG, S

Useful For

Screening for congenital disorders of glycosylation

 

This test is not useful for screening patients for chronic alcohol abuse.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Serum


Ordering Guidance


This test is for congenital disorders of glycosylation. If the ordering healthcare professional 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


Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 0.1 mL Serum

Collection Instructions: Centrifuge and aliquot serum into a plastic vial.


Specimen Minimum Volume

Serum: 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) Performed

Monday, Thursday

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.

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

Cautions

Other conditions such as acute crisis of hereditary fructose intolerance, galactosemia, substance abuse, and acute liver disease may have a congenital disorder of glycosylation (CDG) profile that is indistinguishable from any other true CDG type I cases. Relevant clinical information and the indication for the analysis should be provided with the specimen.

 

Transferrin glycosylation patterns may normalize so repeat testing is warranted in patients with significant clinical suspicion.

Report Available

3 to 6 days

Specimen Retention Time

1 month

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Method Name

Affinity Chromatography Mass Spectrometry (MS)

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.

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.