Galactose-1-Phosphate Uridyltransferase, Blood

Alphabetical Test listing

Galactose-1-Phosphate Uridyltransferase, Blood-994

  
Galactose-1-Phosphate Uridyltransferase, Blood
  
994
  
LAB994
  
MSO
  
GALT
G-1-PU (Galactose-1-Phosphate Uridyltransferase)
Galactosemia
Galactose-1-Phosphate Uridyltransferase (GALT)
Galactosemia Enzyme
Classical Galactosemia
  

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia

Confirmation of abnormal state newborn screening results

  

This assay is not appropriate for monitoring dietary compliance. If dietary monitoring is needed, order GAL1P / Galactose-1-Phosphate, Erythrocytes.

This test is for galactose-1-phosphate uridyltransferase (GALT) enzyme testing only. The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood.

This assay will not detect galactokinase (GALK) deficiency or uridine diphosphate-galactose 4' epimerase (GALE) deficiency.

 

  

The results of testing performed in erythrocytes, including analysis of enzymes, biochemical phenotyping, or galactose-1-phosphate are invalid following a transfusion. Patients should wait 3 to 4 months post transfusion before collecting whole blood for galactose-1-phosphate uridyltransferase testing.

  
EDTA whole blood
  
  
5 mL
  
2 mL
  

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting

  
Sodium heparin (Na hep) whole blood
ACD whole blood
  

Submit entire specimen

  
  

Refrigerated (preferred) - 28 days

Ambient - 14 days

 

  
Processed RBC: 2 months
  

Gross hemolysis

  
Mayo Clinic Laboratories (GALT): R-NX
  
Mo, We, Fr
  
3 - 6 days
  

Enzyme Reaction followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

  

≥ 24.5 nmol/h/mg of hemoglobin

  

Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.

Classic galactosemia can be diagnosed by analysis of GALT enzyme.

This test provides enzymatic testing for the diagnosis of GALT deficiency.

For more information see Galactosemia Testing Algorithm.

  
82775
  
02/13/2023
  
02/14/2023
  
02/13/2023