Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication
Also known as: GICAN PAN
Use
This test is recommended to confirm a hereditary cause of gastrointestinal (GI) cancer in individuals with a personal or family history of GI cancer and/or polyposis. The test analyzes pathogenic germline variants in multiple genes implicated in hereditary GI cancer. Hereditary cancer predisposition is characterized by early onset and multiple, multifocal cancers. Lynch syndrome, the most common hereditary predisposition to colorectal cancer, involves pathogenic variants in genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a heritable form of cancer. This test detects variants within the coding regions and intron-exon boundaries of the targeted genes. Variants outside these regions, low-level mosaicism, mitochondrial DNA variants, and repeat expansions won't be detected. Specific exons are not covered and certain duplications/deletions may not be detected depending on size.
Methodology
NGS
Biomarkers
LOINC Codes
- 31208-2 - Specimen source
- 41103-3 - Gene XXX Mut Anl Bld/T
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant