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 |
| Notes | Not currently performed in house; this is a referred test. |