Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication
Germline analysis of genes associated with high-risk hereditary colorectal cancer syndromes, including Lynch syndrome, familial adenomatous polyposis (FAP) or another APC-associated polyposis condition, and MUTYH-associated polyposis (MAP). Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.
To compare this test to other hereditary cancer panels, refer to the Hereditary Cancer Panel Comparison table.
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)
Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: Unacceptable; Refrigerated: 1 week; Frozen: Unacceptable
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-dependent Probe Amplification
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Genes Tested: APC*; EPCAM**; MLH1; MSH2; MSH6; MUTYH; PMS2
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
**Deletion/duplication analysis of EPCAM (NM_002354) exon 9 only, sequencing is not available for this gene.
81201; 81203; 81292; 81294; 81295; 81297; 81298; 81300; 81406; 81317; 81319; 81479
|Component Test Code*||Component Chart Name||LOINC|
- Constitutional mismatch repair deficiency (CMMRD)
- Gardner syndrome
- Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)
- Hereditary non-polyposis colorectal cancer (HNPCC)
- Muir-Torre syndrome
- Turcot syndrome