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)
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