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Test ID CDGN Congenital Disorders of N-Glycosylation, Serum


Ordering Guidance


This test is for congenital disorders of glycosylation. For evaluation of alcohol abuse, order CDTA / Carbohydrate Deficient Transferrin, Adult, Serum.



Necessary Information


1. Patient’s age is required.

2. Reason for testing is required.



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: 0.15 mL Serum

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


Reporting Name

CDGN, S

Specimen Type

Serum

Specimen Stability Information

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

Report Available

5 to 11 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CDGN CDGN, S 90417-7

 

Result ID Test Result Name Result LOINC Value
602577 Interpretation 59462-2
BG712 Reason for Referral 42349-1
602576 Reviewed By 18771-6

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.

Useful For

Screening for N-linked congenital disorders of glycosylation

 

Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing

Day(s) Performed

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

83789

Specimen Minimum Volume

Serum: 0.1 mL

Reference Values

An interpretive report will be provided.

Method Name

Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

Additional Tests

Test ID Reporting Name Available Separately Always Performed
CDG CDG, S Yes Yes

Testing Algorithm

When this test is ordered, carbohydrate deficient transferrin for congenital disorders will always be performed at an additional charge.

 

For more information see Congenital Disorders of Glycosylation: Screening Algorithm.