APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication
Also known as: APCMYH NGS
Use
The APC- and MUTYH-Associated Polyposis Panel is a recommended diagnostic or predictive test for conditions associated with APC (including familial adenomatous polyposis [FAP], attenuated FAP, and gastric adenocarcinoma and proximal polyposis of the stomach [GAPPS]) and MUTYH-associated polyposis (MAP). This panel detects pathogenic variants in APC and MUTYH genes that are responsible for the development of hundreds to thousands of adenomatous colonic polyps, significantly increasing the risk of colorectal cancer if untreated. The test is crucial for assessing hereditary cancer risk, enabling tailored disease management and surveillance strategies based on genetic risk.
Special Instructions
Testing minors for adult-onset conditions is not recommended and will not be performed in minors without prior approval. A Hereditary Cancer Testing Patient History Form and informed consent for genetic testing (required for NY patients) must be submitted with the order. Contact an ARUP genetic counselor for further information.
Limitations
A negative result does not exclude a diagnosis of familial adenomatous polyposis, other APC-associated polyposis conditions, or MUTYH-associated polyposis due to technical limitations. The test only detects variants within coding regions and intron-exon boundaries of the APC and MUTYH genes. Certain deletions, duplications, or insertions may not be detected, and this assay does not determine precise breakpoints for large deletions or duplications. Single exon deletions may not be detected depending on the breakpoints. The intended use of this test does not cover detection of low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions.
Methodology
NGS
Biomarkers
Result Turnaround Time
10-15 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.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |