Test Catalog

Test ID: MTHFR    
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.(Instruction manual: 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)

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 through Friday; 12 p.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.

3 days

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

Whole blood stored 2 weeks

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