MSH6 Mutation Screen, Blood
Method Description Describes how the test is performed and provides a method-specific reference
DNA sequence analysis is performed to test for the presence of a mutation in all 10 exons of the MSH6 gene. Additionally, gene dosage analysis (MLPA) is used to test for the presence of large deletions and duplications in the MSH6 gene (all exons) and the TACSTD1/EPCAM gene (exons 3 and 8, 2 probes in 3-prime UTR, 1 probe 3kb downstream of TACSTD1/EPCAM, and 1 probe 2.5 kb upstream of MSH2).(Baudhuin LM, Mai M, French AJ, et al: Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods. J Mol Diagn 2005 May;7:226-2235; Casey G, Lindor NM, Papadopoulos N, et al: Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA 2005;293:799-809)
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.
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.
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: 2 weeks (if available) Extracted DNA: 3 months
Performing Laboratory Location The location of the laboratory that performs the test