Galactose-1-Phosphate Uridyltransferase
0080125
Ordering Recommendation
Galactosemia (GALT) enzyme test. Initial test to diagnose or rule out galactosemia.
Mnemonic
G1PUT
Methodology
Enzymatic
Performed
Mon, Wed, Fri
Reported
2-5 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
- Patient Preparation
- Collect
- Green (sodium or lithium heparin), lavender (EDTA), or pink (K2EDTA). Collect on ice.
- Specimen Preparation
- DO NOT FREEZE. Transport 7 mL whole blood. (Min: 3 mL)
- Storage/Transport Temperature
- Refrigerated.
- Unacceptable Conditions
- Hemolyzed specimens.
- Remarks
- Stability
- Ambient: Unacceptable; Refrigerated: 5 days; Frozen: Unacceptable
Reference Interval
14.7-25.4 U/g Hb
Interpretive Data
One U/g Hb is equivalent to one umol/hour/gram of hemoglobin (umol/hr/g Hb).
Note: Values for enzyme activity only may not differentiate between variant form of galactosemia or carriers. For a more accurate evaluation of patients suspected to have galactosemia, the preferred test is Galactosemia (GALT) Enzyme Activity and 9 Mutations (ARUP test code 0051175). To monitor therapy in patients with galactosemia, order Galactose-1-Phosphate in Red Blood Cells (ARUP test code 0081296).
Note: Values for enzyme activity only may not differentiate between variant form of galactosemia or carriers. For a more accurate evaluation of patients suspected to have galactosemia, the preferred test is Galactosemia (GALT) Enzyme Activity and 9 Mutations (ARUP test code 0051175). To monitor therapy in patients with galactosemia, order Galactose-1-Phosphate in Red Blood Cells (ARUP test code 0081296).
Compliance Statement B: For laboratory developed tests not using a RUO kit, and for FDA approved, cleared or 510(k) exempt assays with alterations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
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 (0051175). To monitor therapy in patients with galactosemia, order Galactose-1-Phosphate in Red Blood Cells (0081296).
Hotline History
N/A
CPT Code(s)
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
0080125 | Galac-1-Phos Uridyltransferase | 10970-2 |
Aliases
- Biochemical Phenotype
- Erythrocyte Galactose-1-Phosphate Uridyltransferase Phenotyping
- G-1-PU
- Galactose 1
- Galactose-1-Phosphate Uridyltransferase Isoenzymes/Isoelectric Focusing
- GALT
- GALT Phenotype
- GPUT Phenotyping
- Transferase