Affinity Chromatography / Mass Spectrometry
Screening test for congenital disorders of glycosylation. Note that a positive test could be due to a genetic or non-genetic condition. Reports of abnormal results will include recommendations for additional biochemical and molecular genetic studies to more precisely identify the correct form of CDG.
Transferrin Mono-oligo/Di-oligo Ratio: <or= 0.06; Transferrin A-oligo/Di-oligo Ratio: <or= 0.011; Transferrin Tri-sialo/Di-oligo Ratio: <or= 0.05; Apo CIII-1/Apo CIII-2 Ratio: <or= 2.91; Apo CIII-0/Apo CIII-2 Ratio: <or= 0.48.
Other conditions such as hereditary fructose intolerance, galactosemia, and liver disease may result in increased levels of carbohydrate deficient transferrin. Relevant clinical information and the indication for the analysis should be provided with the specimen, in particular for nonpediatric patients.
- CDT Congen Disord Glycosylatio
- Mono-oligosaccharide/Di-oligosaccharide transferrin ratio
- A-oligosaccharide/Di-oligosaccharide transferrin ratio
Test sent to Mayo Medical Laboratories.