Familial Adenomatous Polyposis (FAP) Known Mutation
Method Description Describes how the test is performed and provides a method-specific reference
DNA sequence analysis or dosage analysis by multiplex ligation-dependent probe amplification (MLPA) is used to determine the presence or absence of the mutation previously identified in a family member of the patient. (Powell SM, Petersen GM, Krush AJ, et al: Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993;329:1982-1987; Giardiello FM, Brensinger JD, Petersen GM, et al: The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 1997;336:823-827; Michils G, Tejpar S, Thoelen R, et al: Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis [FAP]: a Belgian study. Hum Mutat 2005 Feb;25:125-134)
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.
Thursday; 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