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Test Catalog

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

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


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 test or proper submission of the test request

Enzyme testing only. See GCT / Galactosemia Reflex, Blood for comprehensive diagnostic, carrier testing, and follow-up of abnormal newborn screening results.


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.


GCT / Galactosemia Reflex, Blood is the preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results.


For monitoring of dietary compliance, see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Galactosemia Testing Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular 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)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

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)
Galactose-1-Phosphate Uridyltransferase (GALT)
Galactosemia Enzyme