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Transferrin glycoforms/transferrin isoforms

Category Biochemistry
Test background

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.

Clinical Indications

Infant with abnormal fat distribution or cutis laxa.

Reference range

See report

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.
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).