Enzyme Reaction; Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Galactokinase (RBC); Galactokinase Deficiency; Galactosemia
Mayo Medical Lab
Other Reference Test
Monday; 9 A.M.
2-4 mL Whole Blood
Whole blood collected in a sodium heparin or lithium heparin (green-top) or ACD (yellow-top) tube is also acceptable. Specimen must arrive at Mayo within 48 hours of draw. Courier pick up Monday-Friday ONLY.
Room Temp: 72 Hours; Refrigerated: 10 Days; Frozen: Unacceptable
4 mL Whole Blood
2 mL Whole Blood
Diagnosis of glactokinase deficiency, the second most common cause of galactosemia. No special paperwork needed.