Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum
Use
This test is used for screening patients for suspected congenital disorders of glycosylation (N- and O-glycosylation defects as well as glycan structure analysis). Congenital disorders of glycosylation (CDG) encompass over 150 genetic conditions spanning a broad clinical spectrum. The main CDG profiles identified by this analysis include type I, some type II, and mixed type CDG. It is important for patients presenting symptoms such as developmental delay, hypotonia, neurological abnormalities, skin manifestations, and coagulopathy.
Special Instructions
Not provided.
Limitations
Transferrin glycosylation patterns may normalize, so repeat testing might be necessary for patients with significant clinical suspicion. Other conditions such as acute liver disease, hereditary fructose intolerance, and galactosemia may present profiles similar to CDG.
New York Approved
Methodology
Mass Spectrometry (Affinity Chromatography)
Biomarkers
Apolipoprotein CIII
ProteinTransferrin
Protein
LOINC Codes
- 90417-7
- 42349-1
- 35469-6
- 35475-3
- 53808-2
- 18771-6
- 90420-1
- 90421-9
- 90419-3
Result Turnaround Time
3-6 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.1 mL
Minimum Volume
0.05 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 28 days |
| Frozen | 45 days |