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Test Name:
Galactose-1-Phosphate Uridyltransferase
- SBMF No:
45529 - Performance Lab Name:
ARUP Laboratories - Test Mnemonic:
G1PUT - ABN:
Not required - CPT Code:
82775 - LOINC Code:
10970-2 - Ref Lab Test No:
0080125 - Also Known As:
Beutler Test
Galactose 1
Galactose 1 phosphate uridyltransferase
Galactosemia confirmation
Galactosemia confirmatory testing
Galactosemia diagnosis
GALT
transferase - Also See:
44738 Galactose-1-Phosphate in Red Blood Cells
44922 Galactosemia, (GALT) 9 Mutations
44923 Galactosemia, (GALT) Enzyme Activity and 9 Mutations - Spec Type:
Whole blood - Spec Container:
Green top (heparin) or lavender top (EDTA) tube
Collect on ice - Pref Vol:
7.0 mL - Min Vol:
3.0 mL - Fasting:
No - Patient Prep:
Form required: "Patient History for Galactosemia" - Spec Collect:
Routine venipuncture
Collect on ice - Spec Process:
Gently invert tube to mix
Do not centrifuge
Do not remove plasma from cells
Specimen cannot be frozen - Spec Store Transport:
Refrigerated - Spec Stability:
Room temperature (20-30°C): Unacceptable
5 days refrigerated (2-8°C)
Frozen (-20°C): Unacceptable - Spec Reject:
Room temperature or frozen sample
Hemolyzed sample - Spec Remarks:
Do not freeze - Methodology:
Enzymatic - Clinical Significance:
Refer to:
- Reference Range:
14.7-25.4 U/g Hb
Note:
Enzyme activity only may not differentiate variant form of galactosemia or carriers. For a more accurate evaluation of patients suspected to have galactosemia the preferred test is Galactosemia, Panel (SBMF Test Code 44923). To monitor therapy in patients with galactosemia, order Galactose-1-Phosphate in Red Blood Cells (SBMF Test Code 44738). - Day Run:
Mon, Wed, Fri - Time Reported:
3-5 days - Test Type:
ENZYME
