Galactokinase, Blood

• CPT Code:
• LOINC:
• Specimen Type: WB LAV
• Frequency: Setup: Mon; analytic time 8 day
• Instructions: 4.0mL whole blood from LAV, refrigerated. Min 2.0mL
• Text: Useful For: Diagnosis of galactokinase deficiency, the second most common cause of galactosemia. GALK deficiency is treated with a lactose-restricted diet. Early treatment may prevent or reverse the formation of bilateral juvenile cataracts.
• Methodology: Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)