Diagnostic testing

Analysis of serum transferrin glycoforms (also called "carbohydrate-deficient transferrin analysis"). The diagnostic test for CDG-1a is isoelectric focusing (IEF) or other isoform analysis (i.e., performed by capillary electrophoresis, GC/MS, CE-ESI-MS, MALDI-MS) to determine the number of sialylated N-linked oligosaccharide residues linked to serum transferrin.