Congenital Disorders of N-Glycosylation, Serum
Use
This test is useful for screening for N-linked congenital disorders of glycosylation (CDG). It provides information on specific structural oligosaccharide abnormalities, which can potentially direct further genetic testing. N-linked CDG commonly present as clinical syndromes with multisystemic involvement and a broad clinical spectrum. Early detection through this test can aid in the diagnosis and management of these disorders.
Special Instructions
Not provided.
Limitations
The test specifically targets N-linked glycosylation defects and may not detect all variants of congenital disorders of glycosylation. O-glycosylation defects, which are frequently tissue specific, are not effectively assessed with this method. The test results should be interpreted in the context of clinical findings and other laboratory tests that assess transferrin and apolipoprotein CIII isoforms. Any abnormal findings should prompt further biochemical and molecular genetic studies to identify the precise type of CDG.
New York Approved
Methodology
Mass Spectrometry (MALDI-TOF)
Biomarkers
LOINC Codes
- 90417-7
- 59462-2
- 42349-1
- 18771-6
Result Turnaround Time
5-11 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.15 mL
Minimum Volume
0.1 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 28 days |
| Frozen | 45 days |