Von Hippel-Lindau (VHL) Gene, Full Gene Analysis
Method Description Describes how the test is performed and provides a method-specific reference
The von Hippel-Lindau (VHL) gene is amplified by PCR and fluorescent dye-terminator sequencing is performed in the 3 exons and exon-intron boundaries of the VHL gene (GenBank accession number: NM_000551.2). If no mutations are detected, multiplex ligation-dependent probe amplifications performed to test for the presence of large deletions in the VHL gene. This method utilizes probes for all 3 exons of the VHL gene. Specimens submitted for diagnosis of erythrocytosis or polycythemia will not routinely be tested for VHL deletion detection as large deletions in the VHL gene have not been described in the literature in relation to erythrocytosis or polycythemia.(Unpublished Mayo method)
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; 8 am
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.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Whole blood 60 days; extracted DNA indefinitely, patient must opt out.
Performing Laboratory Location The location of the laboratory that performs the test