Hereditary Colon Cancer Multi-Gene Panel
Method Description Describes how the test is performed and provides a method-specific reference
Next generation sequencing and/or Sanger sequencing is performed to test for the presence of a mutation in the APC, AXIN2, BMPR1A, CDH1, CHEK2, MLH1, MLH3, MSH2, MSH6, MYH/MutYH (Y165C and G382D mutations only), TP53, PTEN (including analysis of the promoter: c.-1250_c.1), SMAD4 , and STK11 genes. Additionally, array comparative genomic hybridization (aCGH) is used to test for the presence of large deletions and/or duplications in the APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MLH3, MSH2, MSH6, TP53, PTEN, SMAD4, SCG5/GREM1, and STK11 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;14:357-366; 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;14:594-603)
Bidirectional sequence analysis with long-range PCR is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the PMS2 gene. Gene dosage analysis by multiplex ligation-dependent probe amplification 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;27:490-495; 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)
All reported alterations detected by next generation sequencing are confirmed using Sanger sequencing or other PCR-based assay.
Supplemental 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.
Every other Wednesday, 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: Indefinitely
Performing Laboratory Location The location of the laboratory that performs the test