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)

Constituent Tests

• PMM2-Congenital Disorder of Glycosylation: PMM2 analysis
• Apolipoprotein CIII Mass Spectrometry for Congenital Disorders of Glycosylation (Research Only), Plasma

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

Specimen Type

• Serum
• Plasma

Specimen Requirements

Tube/Container Type:

Preferred

• Serum (Red Cap)

Acceptable

• Serum (Red Cap)
• SST II (Gold Cap)
• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

2.0

Minimum Sample Volume (ml)

1.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• Serum (Red Cap)

Acceptable

• Serum (Red Cap)
• SST II (Gold Cap)
• EDTA (Lavender Cap)

Minimum Sample Volume (ml)

0.5

Interferences

Gross haemolysis

Aliquot Instructions

Sample Type

• Serum

Minimum Volume (ml)

0.5

Transport to Lab

Chilled (2 - 8 degrees Celsius)
If overnight - Frozen

Interpretation

While PMM2 sequencing is available at CHL, the screening test is Transferrin isoforms (CDG) blood test. Sequencing will only be performed after the screening test as confirmation.

Reference Intervals

A-oligo/Di-oligo  <0.012

Mono-oligo/Di-oligo  <0.07

Tri-sialo/Di-oligo <0.06

Test Method

Time of Flight Mass Spectrometry of Transferrin isoforms

Non-Funded Test Cost

$516.92 (Exclusive of GST)

Billing Code

5826

Carbohydrate deficient transferrin (CDT) is also used as a biomarker for chronic alcohol abuse. For monitoring of alcoholism (CDT) refer to Protein Lab (03 364 0300 x 80334)

Contact Information

Enquiry Form

Contact Information

Enquiry Form