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Galactokinase, blood

Lab Section:  Sendout Reference  
Lab Location:  Sendout
Reference Lab: Mayo 
Test ID: LAB993 
Methodology: Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Schedule: Mondays 9 am
Reported: 20 days
Specimen Requirements:  Collection: 6.0 mL Blood in a Green Top Tube - Sodium Heparin.
Pediatric volume: 2 mL.
Whole blood; Lavender top (EDTA), Green top (sodium heparin), green top (lithium heparin), or yellow top (ACD); Collection date is required
Handling: Specimen must arrive within 48 hours of draw.
Unacceptable conditions: Specimens other than whole blood; Anticoagulants other than sodium heparin; Gross hemolysis
Stability: Refrigerated (preferred) 10 days; Ambient: 72 hours

Notes: 

Clinical Indications: Galactokinase (GALK) deficiency is the second most common form of galactosemia, affecting approximately 1/250,000 live births, with a higher frequency in the Romani population. Individuals with GALK deficiency have a milder clinical presentation than that seen in patients with classic galactosemia, galactose-1-phosphate uridyltransferase (GALT) deficiency. The major clinical manifestation is bilateral juvenile cataracts. GALK deficiency is treated with a lactose-restricted diet. Early treatment may prevent or reverse the formation of cataracts.

Reference Interval:  See patient report or consult reference laboratory website.
CPT Code(s): 82759
Last Changed: 11/09/2016 15:05:15
Last Reviewed: 12/26/2016 23:45:51