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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).

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)
82775
Components
Component Test Code*Component Chart NameLOINC
0080125Galac-1-Phos Uridyltransferase10970-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
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