Test Catalog

Test ID: BRAJ3    
BRCA1/BRCA2 Ashkenazi Jewish 3-Site Mutation Panel, Varies

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

Next-generation sequencing is performed to test for the presence of a mutation in the BRCA1 and BRCA2 genes.(Pritchard CC, Smith C, Salipante SJ, et al: ColoSeq provides comprehensive Lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012;14[4]:357-366).  Bioinformatic metrics are utilized to mask data outside of the targeted reportable regions.  This assay specifically targets the Ashkenazi Jewish founder mutations, c.68_69delAG and c.5266dupC in BRCA1, and c.5946delT in BRCA2

Reported variants detected by next generation sequencing will be confirmed by Sanger sequencing.


Note: analysis of the area surrounding the familial variant may be required in the performance of this assay, which could result in identification of additional variants. Contact the laboratory at 800-533-1710 with any questions regarding assay performance.

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.

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.

3 weeks

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

4 weeks

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 Indicates the location of the laboratory that performs the test