Test Catalog

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

Method Description Describes how the test is performed and provides a method-specific reference

An aqueous mixture containing CLR H2O, uridine diphosphate (UDP)-glucose, (13)C2-labeled galactose-1-phosphate, and UDP-n-acetylglucosamine (internal standard) is added to a hemolysate aliquot. The mixture is then vortexed briefly and incubated at 37 degrees C for 15 minutes.


After incubation the reaction is quenched, extracted, and centrifuged The top  layer is then transferred to a 96-well (Nunc, polypropylene) plate. Then injected onto a liquid chromatography-tandem mass spectrometry (LC-MS/MS) The ratio of the extracted peak area of (13)C2labeled UDP-galactose to its internal standard UDP-n-acetylglucosamine as determined by LC-MS/MS is used to calculate the concentration of product analyte in the sample. The concentration of the product is then normalized using the calculated hemoglobin concentration to determine the patient's enzyme level in nmol/h/mg of hemoglobin.(Unpublished Mayo method)

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information


Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.

Monday, Wednesday, Friday; 7 a.m. (specimen must be received the day prior)

Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.

4 days (not reported on Saturday or Sunday)

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Clinic Laboratories until the release of the test result

5 days

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Processed RBC: 2 months

Performing Laboratory Location Indicates the location of the laboratory that performs the test