Ordering Recommendation

Recommended test to confirm a hereditary cause of 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.

To compare this test to other hereditary cancer panels, refer to the Hereditary Cancer Panel Comparison table.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing/Sequencing/Multiplex Ligation-Dependent Probe Amplification (MLPA)

Performed

Varies

Reported

14-21 days

Reference Interval

By report

Interpretive Data

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.

Compliance Category

Laboratory Developed Test (LDT)

Note

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.

Hotline History

N/A

CPT Codes

81435; 81436

Components

Component Test Code* Component Chart Name LOINC
2010199 Gastrointestinal Cancer Panel - Spcmn 31208-2
2013450 Gastrointestinal Cancer Panel - Interp 41103-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Cowden syndrome
  • Familial Adenomatous Polyposis (FAP)
  • GIST
  • 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
  • Lynch syndrome
  • MUTYH-associated polyposis (MAP)
  • Peutz Jegher syndrome (PJS)
Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication