Hereditary Gastrointestinal Cancer Panel, Varies
Use
This test is useful for evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome. It helps in establishing a diagnosis of hereditary gastrointestinal cancer syndrome or hereditary polyposis syndrome, allowing for targeted cancer surveillance based on associated risks. Additionally, it identifies genetic variants associated with increased risk for gastrointestinal cancer and polyposis, enabling predictive testing and appropriate screening of at-risk family members.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur. Depth of coverage may be variable for some target regions, and performance below the minimum acceptable criteria or for failed regions will be noted. Negative results do not rule out the diagnosis of a genetic disorder. There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis due to technical limitations, high GC content, and repetitive sequences. The test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 107546-4 - Hered gast multi anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD), green top (Sodium heparin acceptable)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |
