von Willebrand Disease 2N (Subtype Normandy), Blood
Method Description Describes how the test is performed and provides a method-specific reference
Direct mutation analysis:
Based on the PCR, 3 regions of the von Willebrand factor gene (exons 18, 19, 20) are individually amplified from leukocyte genomic DNA. Each amplification product is restricted by an endonuclease (exon 18: Tai I [Thr791Met]; exon 19: Ava II [Arg816Trp]; exon 20: Msp I [Arg854Gln]) followed by agarose-gel electrophoresis and ethidium bromide staining of the restriction products. A Polaroid picture records information to be interpreted.(Molecular cloning: a laboratory manual. Second edition. Edited by J Sambrook, EF Fritsch, T Maniatis. Cold Spring Harbor, NY, Cold Spring Harbor Press, 1989, p 53)
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.
Tuesday; 1 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.
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
Extracted DNA retained indefinitely
Performing Laboratory Location The location of the laboratory that performs the test