Recommended test to confirm a diagnosis of hereditary gastrointestinal (GI) cancer in individuals with a personal or family history of GI cancer and/or polyposis. 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.
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-dependent Probe Amplification
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 3 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
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*; AXIN2; BMPR1A*; CDH1*; CHEK2*; EPCAM**; KIT; MLH1; MLH3*; MSH2; MSH3; MSH6; MUTYH; NTHL1; PDGFRA*; PMS2; POLD1; POLE; PTEN*; SDHA*; SDHB; SDHC*; SDHD*; SMAD4; STK11; TP53
*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.
|Component Test Code*||Component Chart Name||LOINC|
|2010199||Gastrointestinal Cancer Panel - Spcmn||31208-2|
|2013450||Gastrointestinal Cancer Panel - Interp||41103-3|
- Cowden syndrome
- Familial Adenomatous Polyposis (FAP)
- Hereditary Diffuse Gastric Cancer (HDGC)
- Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
- Hereditary Paraganglioma Pheochromocytoma syndrome
- Juvenile polyposis
- Juvenile Polyposis syndrome (JPS)
- Li-Fraumeni syndrome (LFS)
- Lynch syndrome
- MUTYH-associated polyposis (MAP)
- Peutz Jegher syndrome (PJS)