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Phone Icon Phone Support:  1-800-876-0243     Mail Icon  info@amsreferencelab.com     Location Icon 2916 E. Central Wichita, KS 67214    
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Test ID: ZH201 (GALK)

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)

 

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