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Test ID: GCT    
Galactosemia Reflex, Blood

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

Galactose-1-phosphate uridyltransferase converts uridine diphosphoglucose (UDPG) to UDP-galactose. The amount of UDPG consumed is measured by oxidizing UDPG with concomitant generation of NADPH from NADP (UDPG-dehydrogenase), which is measured at 340 nm. (Beutler E, Baluda MC: Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytes. Clin Chim Acta 1966 March;13[3]:369-379)

 

A real-time PCR-based assay using the LightCycler detects 6 alterations: Q188R, L195P, S135L, K285N, L218L, and N314D. (Dobrowolski SF, Banas RA, Suzow JG, et al: Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene. J Mol Diagn 2003;5:42-47)

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.

Varies; batching samples due to reagent shortage

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.

3 days

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

4 days

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

2 months

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

Rochester