TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

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

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Specimen Type Describes the specimen type validated for testing

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 Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 0.1 mL

Special Instructions Library of PDFs including pertinent information and forms related to the test

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.

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

0.05 mL

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTimeSpecial Container
SerumFrozen (preferred)45 days
 Refrigerated 28 days
 Ambient 7 days