Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR40925Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2012026CPT Code 81432

Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication

Also known as: BOCAPAN

Clinical Use

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Use

This test is recommended to confirm a hereditary cause of breast and/or gynecological cancer(s) in individuals with a complex personal or family history of breast, ovarian, or endometrial cancer. It evaluates multiple genes implicated in hereditary breast, ovarian, and endometrial cancers, providing insights into genetic predispositions characterized by early-onset cancer (before age 50) and multiple, multifocal, and/or related cancers in an individual or family members.

Special Instructions

Testing minors for adult-onset conditions is not recommended without prior approval. Counselors are available for guidance. A Hereditary Cancer Testing Patient History Form and an Informed Consent for Genetic Testing are required for New York patients.

Limitations

This test detects variants only within the coding regions and the intron-exon boundaries of the targeted genes. Limitations include the inability to detect low-level mosaic or somatic variants, regulatory region variants, deep intronic variants, and precise breakpoints for large deletions or duplications. Single exon deletions have reduced sensitivity and some exons may not be distinguishable from pseudogenes.

Test Details