Ordering Recommendation

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.

Mnemonic

GIHR NGS

Methodology

Massively Parallel Sequencing/Sequencing/Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 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

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*; 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.

Hotline History

N/A

CPT Codes

81201; 81203; 81292; 81294; 81295; 81297; 81298; 81300; 81406; 81317; 81319; 81479

Components

Component Test Code* Component Chart Name LOINC
3005698 GIHR Specimen 31208-2
3005699 GIHR Interp 50398-7
* 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

  • 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
  • MYH
  • Turcot syndrome
Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication