Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR64032Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2013449CPT Code 81435

Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication

Also known as: GICAN PAN

Clinical Use

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Use

This test is recommended to confirm a hereditary cause of gastrointestinal (GI) cancer in individuals with a personal or family history of GI cancer and/or polyposis. The test analyzes pathogenic germline variants in multiple genes implicated in hereditary GI cancer. Hereditary cancer predisposition is characterized by early onset and multiple, multifocal cancers. Lynch syndrome, the most common hereditary predisposition to colorectal cancer, involves pathogenic variants in genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM.

Special Instructions

Recommended for individuals with a family history of GI cancer; testing minors for adult-onset conditions requires prior approval. Specific consent forms are necessary for patients in New York. Genetic counseling and informed consent are advised.

Limitations

A negative result does not exclude a heritable form of cancer. This test detects variants within the coding regions and intron-exon boundaries of the targeted genes. Variants outside these regions, low-level mosaicism, mitochondrial DNA variants, and repeat expansions won't be detected. Specific exons are not covered and certain duplications/deletions may not be detected depending on size.

Test Details

Methodology

NGS

Biomarkers

This component utilizes massively parallel sequencing for targeted capture of coding exons and exon-intron junctions of multiple genes associated with hereditary GI cancer, supplemented by Sanger sequencing and MLPA for deletion/duplication detection.

Mutation (26 genes)