5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood
Method Description Describes how the test is performed and provides a method-specific reference
The assay is a direct mutational analysis of patient leukocyte genomic DNA. A hybridization reaction of patient genomic DNA with mutant or wild type probes along with an Invader Oligo creates a complex that is recognized and cleaved by the enzyme, Cleavase. A cleavage fragment from this complex then incorporates into a secondary complex that also is recognized and cleaved by the Cleavase enzyme, releasing a fluorophore that is specific for either the wild-type or mutant sequence. The reaction is read on a fluorescence detector at 485/530 and 560/612 wavelengths. The ratios between the readings determines the allelic zygosity of the patient.(Invader, Third Wave Technologies, Madison, WI; Hall JG, Eis PS, Law SM, et al: Sensitive detection of DNA polymorphisms by the serial invasive signal amplification reaction. Proc Natl Acad Sci USA 2000;97:8272-8277)
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 through Friday; 12 p.m.