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Congenital Disorder of Glycosylation Transferrin

Alternate test name

Carbohydrate-Deficient Glycoprotein Syndrome (CDGS), Carbohydrate Deficient Glycoprotein (CDG), Congenital disorder of glycosylation (CDG), Transferrin Isoelectric focusing (TIEF)

Lab area
Clinical Biochemistry - Metabolic Diseases
Method and equipment
High Performance Liquid Chromatography with UV-Vis detection
Expected turn-around time
20 days
Specimen type


Specimen requirements

250 µL of serum (Gold Top SST or Red Top Serum Tube).

Storage and transportation
  • Store at -20°C and transport frozen on dry ice.
Special requirements
  • Separate and freeze within 1 hour of collection.
  • Plasma and hemolysed serum not acceptable.
Shipping information
The Hospital for Sick Children
Rapid Response Laboratory
555 University Avenue, Room 3642
Toronto, ON
M5G 1X8
Phone: 416-813-7200
Toll Free: 1-855-381-3212
Hours: 7 days/week, 24 hours/day
Background and clinical significance

Diagnosis of Congenital disorders of glycosylation

Disease condition

Congenital Disorders of Glycosylation

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