Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR36532Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3005697CPT Code 81435

Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication

Also known as: GIHR NGS

Clinical Use

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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

Testing minors for adult-onset conditions is not recommended and requires prior approval for minors. It is crucial to fill out the Hereditary Cancer Testing Patient History Form and the Informed Consent for Genetic Testing, especially for New York patients.

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.

Test Details