Carbohydrate Deficient Transferrin (Inborn Error Metabolism)

Diagnostic Use

CDG (carbohydrate deficient glycoprotein) is used in the diagnosis of congenital defects of glycosylation that usually present in childhood and are associated with grossly elevated levels of CDG.

Our method does not detect all CDG's, or it may not detect CDG's in infants <3 months of age.

Department

Specialist Biochemistry

Delphic Registration Code

TRIS

Synonyms

Carbohydrate deficient glycoprotein
CDG
Phosphomannomutase deficiency
Transferrin isoforms

Turnaround Time

2 weeks

Test Code

5826

Specimen Type

• Serum
• Plasma

Specimen Requirements

Tube/Container Type:

Preferred

• Serum (Red Cap)

Acceptable

• Serum (Red Cap)
• Lithium Heparin - Non-gel (Green Cap)
• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

2.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• Serum (Red Cap)
• Lithium Heparin - Non-gel (Green Cap)
• EDTA (Lavender Cap)

Acceptable

• Serum (Red Cap)
• Lithium Heparin - Non-gel (Green Cap)
• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

0.25

Aliquot Instructions

Sample Type

• Serum

Minimum Volume (ml)

0.5

Transport to Lab

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

Additional Referral/Aliquot Information

Unsuitable: Heparin, EDTA, Fluoride Ox plasma

Interpretation

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

Reference Intervals

Test Method

Time of Flight Mass Spectrometry

Non-Funded Test Cost

$466.66 (Exclusive of GST)

Billing Code

5826

For monitoring of alcoholism refer to Protein Lab (03 364 0300 x 80334)

Contact Information

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