Test ID: GALT    
Galactose-1-Phosphate Uridyltransferase, Blood

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Useful For Suggests clinical disorders or settings where the test may be helpful

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

 

Confirmation of abnormal state newborn screening results

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For more information see Galactosemia Testing Algorithm.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Gal-1-P Uridyltransferase, RBC

Aliases Lists additional common names for a test, as an aid in searching

G-1-PU (Galactose-1-Phosphate Uridyltransferase)
Galactosemia
Galactose-1-Phosphate Uridyltransferase (GALT)
Galactosemia Enzyme
Classical Galactosemia