Test Catalog

Test ID: PMS2Z    
PMS2 Gene, Full Gene Analysis

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

Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the PMS2 gene. Additionally, gene dosage analysis (multiplex ligation-dependent probe amplification) is used to test for the presence of large deletions and duplications in this gene.(Vaughn CP, Hart J, Samowitz WS, Swensen JJ: Avoidance of pseudogene interference in the detection of 3' deletions in PMS2. Hum Mutat 2011;32:1063-1071)

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information

No

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.

Performed weekly, Varies

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.

14 days

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

20 days

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

Rochester