Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication
Also known as: GIHR NGS
Use
This test conducts germline analysis of genes associated with high-risk hereditary colorectal cancer syndromes, which include Lynch syndrome, familial adenomatous polyposis (FAP), and MUTYH-associated polyposis (MAP). Hereditary cancer predisposition is often characterized by early onset and the presence of multiple similar cancers within an individual or their close relatives. Identification of pathogenic variants helps in diagnosing these conditions and determining potential risks for colorectal and other associated cancers.
Special Instructions
Not provided.
Limitations
This test detects variants within the coding regions and intron-exon boundaries of the targeted genes. Regulatory region variants, deep intronic variants, low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA variants, or repeat expansions are not detected. Variants in pseudogenes and any technical limitations might hinder variant identification. Single exon deletions are reported but called at a lower sensitivity.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 31208-2 - Specimen source
- 50398-7 - Narrative diagnostic report-Imp
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 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