Transferrin glycoforms/transferrin isoforms
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.
|Sample & container required||SST (gold top), serum (red top) or heparin (green top)|
|Sample volume||1 mL|
|Turnaround time||Up to 6 weeks|
Not currently performed in house; this is a referred test.