Test Code 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.
Special Instructions
Reporting Name
CDGN, SSpecimen Type
SerumSpecimen 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 |
Reject Due To
Gross hemolysis | Reject |
Gross lipemia | OK |
Gross icterus | OK |
Reference Values
An interpretive report will be provided.
Day(s) Performed
Wednesday
Report Available
5 to 11 daysSpecimen Retention Time
1 monthPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT 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 |