Test Catalog

Test ID: BRCRC    
Hereditary Breast and Colorectal Cancer Panel, Next-Generation Sequencing, 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 variant in the BRCA1, BRCA2, TP53, PTEN (including analysis of the promoter: c.-1344_c.-745), CDH1, STK11, MLH1, MSH2, and MSH6 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)


Gene dosage analysis by multiplex ligation-dependent probe amplification (MLPA) is used to test for the presence of large deletions and duplications in the BRCA1 and BRCA2 genes.(Unpublished Mayo method)


Gene dosage analysis by array comparative genomic hybridization (aCGH) is used to test for the presence of large deletions and duplications in the TP53, PTEN, CDH1, STK11, MLH1, MSH2, MSH6, and EPCAM genes.(Swaroop A, Lewis R, Bonaga T, et al: Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. Genet Med. 2012;14[6]:594-603)


Bidirectional sequence analysis with long-range PCR is performed to test for the presence of a variant in all coding regions and intron/exon boundaries of the PMS2 gene. Gene dosage analysis by MLPA is used to test for the presence of large deletions and duplications in the PMS2 gene.(Clendenning M, Hampel H, LaJeunesse J, et al: Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat 2006;27[5]:490-495; Vaughn CP, Hart KJ, Samowitz WS, et al: Avoidance of pseudogene interference in the detection of 3' deletions in PMS2. Hum Mutat. 2011;32:1063-1071)


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

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: Indefinitely

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