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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


Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 0.15 mL

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


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.

Useful For

Screening for N-linked congenital disorders of glycosylation

 

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

Genetics Test Information

Congenital disorders of glycosylation (CDG) comprise a large group of inborn errors of metabolism affecting predominantly N- and O-glycosylation of proteins.

 

N-linked CDG commonly present as clinical syndromes with multisystemic involvement and a broad clinical spectrum.

 

In addition to transferrin and apolipoprotein CIII isoform analysis, this test also detects and analyzes serum N-linked oligosaccharides by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry for a more comprehensive evaluation of CDG.

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.

Method Name

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

Reporting Name

CDGN, S

Specimen Type

Serum

Specimen Minimum Volume

0.1 mL

Specimen Stability Information

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

Reference Values

An interpretive report will be provided.

Day(s) Performed

Wednesday

Report Available

5 to 11 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CDGN CDGN, S In Process

 

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

NY State Approved

Yes