APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR79900Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004407CPT Codes 81201, 81203, 81406, 81479

APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication

Also known as: APCMYH NGS

Clinical Use

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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

Not provided.

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.

Test Details