Transferrin Isoforms Mass Spectrometry for Congenital Disorders of Glycosylation, Serum

Diagnostic Use

Transferrin isoforms are used in the screening of congenital disorders of glycosylation (CDG). CDG are classified into two main groups. Type I CDG are characterised by defects in the assembly or transfer of the dolichol-linked glycan, while type II CDG involve processing defects of the glycan. Abnormal Transferrin isoforms are a marker for N-linked CDG.

This method does not detect all CDGs, or CDGs in infants < 3 months of age. Some CDGs are not associated with abnormalities of Transferrin isoforms. Recent transfusions invalidate results.

Department

Specialist Biochemistry

Delphic Registration Code

TRIS

Laboratory Handling

Test Adds

Chilled (2-8 degrees Celsius), or Frozen (preferred)

Synonyms

Serum transferrin isoforms
Transferrin isoforms
Congenital disorder glycosylation
CDG
Inborn Error Metabolism
IEM
Carbohydrate deficient transferrin
CDT
Carbohydrate deficient glycoprotein

Turnaround Time

2 weeks

Test Code

5826