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

Useful For

Screening for congenital disorders of glycosylation

 

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

Genetics Test Information

This testing is used to screen patients for suspected congenital disorders of glycosylation (N- and O-glycosylation defects as well as glycan structure analysis).

 

Congenital disorders of glycosylation (CDG) encompass over 150 genetic conditions spanning a broad clinical spectrum.

 

The main CDG profiles that can be identified by this analysis are type I, some type II, and mixed type CDG.

Method Name

Affinity Chromatography-Mass Spectrometry (MS)

Reporting Name

CDG, S

Specimen Type

Serum


Ordering 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

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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 days

NY State Approved

Yes

Forms

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.

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.