Congenital disorders of glycosylation (CDG) are rare, inherited disorders. There are roughly 50 disorders classified by the type of glycosylation involved; protein N, protein O, lipid and multiple pathways. TRGLY is used to check for defects of protein N-glycosylation.
Infant with abnormal fat distribution or cutis laxa.
SST (gold top), serum (red top) or heparin (green top)
Up to 6 weeks
Not currently performed in house; this is a referred test.
This test may be unreliable in neonates younger than three weeks due to the presence of maternal transferrin. Please note, this test is NOT suitable for adults (do not confuse with carbohydrate deficient transferrin).