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Test Catalog

Test ID: GAL1P    
Galactose-1-Phosphate, Erythrocytes

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

Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase

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.

 

Galactose-1-phosphate is elevated in patients with galactosemia due to GALT deficiency or uridine diphosphate galactose-4-epimerase (GALE) deficiency, therefore is a suitable analyte for monitoring dietary compliance.

Highlights

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

See Galactosemia Testing Algorithm in Special Instructions

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

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

Galactose-1-Phosphate, RBC

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

Gal1P
Galactosemia
Galactose-1-Phosphate