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Test ID: HCCD    
Hereditary Colon Cancer Multi-Gene Large Deletion and Duplication Analysis

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

Array comparative genomic hybridization (aCGH) is used to test for the presence of large deletions and duplications in the APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MLH3, MSH2, MSH6, TP53, PTEN, SMAD4, SCG5/GREM1, and STK11 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)

 

Gene dosage analysis by multiplex ligation-dependent probe amplification (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)

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information

No

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.

Varies, weekly to every other week based on sample volume, will be run twice a month at minimum

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.

2 weeks

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

3 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 The location of the laboratory that performs the test

Rochester