Transferrin glycoforms

Chemical Pathology

Notes

Used to screen for congenital defects of glycosylation (CDG) by isoelectric focusing of transferrin glycoforms, to detect abnormal patterns of glycosylation.

This test is not suitable for alcohol investigations.

Sample requirements

• Patients MUST be more than 3 weeks old before sampling to avoid interference from maternal transferrin.
• Samples must not be taken within 4 - 6 weeks of a blood transfusion.

For children and neonates (> 3 weeks old), a minimum of 0.5 ml taken into a plain tube

Storage/transport

Do not store. Send at ambient temperature immediately to the laboratory.

Laboratory information: separation should not be delayed so as to avoid cell lysis.

Required information

Relevant clinical details including time post blood transfusion if appropriate.

Turnaround times

Samples are sent for analysis to The National Hospital for Neurology and Neurosurgery, London with results expected back within 3 weeks.

Reference ranges

Qualitative report provided so not applicable.

Further information

To learn more visit The National Metabolic Biochemistry Network website; useful review on Investigations: Neurogenerative disorders and metabolic disease; Contact a family