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Carbohydrate deficient transferrin (pediatric)

Lab Section:  Sendout Reference  
Lab Location:  Sendout
Reference Lab: Mayo 
Test ID: LAB7032 
Methodology: Immunoaffinity liquid chromatography and electrospray mass spectrometry
Schedule: Monday-Friday
Reported: 10 days for routine orders.
Specimen Requirements:  Collection: 2.0 mL Blood in a Red Top Tube.
Pediatric volume: 1.0 mL.
Unacceptable conditions: Gross hemolysis
Stability: Ambient: 7 days; Refrigerated: 28 days; Frozen: 45 days

Notes: 

Clinical Indications: Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, are a group of nearly 70 inherited metabolic disorders affecting several steps of the pathway involved in the glycosylation of proteins. CDG are classified into 2 groups. Type I CDG is characterized by defects in the assembly or transfer of the dolichol-linked glycan, while type II involves processing defects of the glycan. Apolipoprotein CIII (Apo-CIII) isoforms, a protein with a single core 1 mucin type O-glycosylate protein, is a complementary evaluation for the CDG type II profile. This analysis will evaluate mucin type O-glycosylation, a defect that happens in the Golgi apparatus, and will change the ratios, increasing the asialo or monoisalo forms and decreasing the fully sialilate (disialo) forms.

Reference Interval:  See patient report or consult reference laboratory website.
CPT Code(s): 82373
Last Changed: 12/21/2016 05:35:12
Last Reviewed: 12/21/2016 05:35:17