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. When a relative has a previously identified pathogenic variant, see Familial Mutation, Targeted Sequencing (2001961).
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray/Sequencing/Multiplex Ligation-dependent Probe Amplification
Lavender (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
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****, MLH1, MSH2, MSH3**, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SDHB, SDHC*, SDHD*, SMAD4, STK11, TP53
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
** Deletion/duplication detection is not available for this gene.
**** Deletion/duplication 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)