Test ID: GALTK
Galactosemia Gene Analysis, Known Mutation
Method Description
Describes how the test is performed and provides a method-specific reference
A PCR-based assay utilizing fluorescence resonance energy transfer (FRET) probes, melt-curve analysis, and LightCycler technology is used to examine the GALT gene for the presence of the known familial mutation(s).(Wittwer CT, Herrmann MG, Gundry CN, Elenitoba-Johnson KS: Real-time multiplex PCR assays. Methods 2001 Dec;25[4]:430-442)
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.
Friday; 10 a.m.
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.
10 days
Maximum Laboratory Time
Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
16 days
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Whole Blood: 2 weeks (if available) Extracted DNA: 3 months
Performing Laboratory Location
The location of the laboratory that performs the test
Rochester


