BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR93223Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001855CPT Code 81162

BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication

Also known as: BRCA NGS

Clinical Use

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Use

This test is recommended to confirm BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) syndrome. It targets individuals who may have a family history of breast (female and male), ovarian, fallopian tube, peritoneal, pancreatic, and prostate cancers. Additionally, BRCA2 carriers may have an increased risk for melanoma. The test helps identify pathogenic variants in the BRCA1 and BRCA2 genes, which are autosomal dominantly inherited tumor suppressor genes associated with HBOC syndrome.

Special Instructions

Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. A Hereditary Cancer Testing Patient History Form and Informed Consent for Genetic Testing are required, especially for NY patients. For more information, contact an ARUP genetic counselor.

Limitations

A negative result does not exclude the possibility of a heritable form of cancer as this test only detects variants within the coding regions and intron-exon boundaries of the BRCA1 and BRCA2 genes. Regulatory region variants, deep intronic variants, low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA variants, and repeat expansions are not detected. It also does not cover noncoding transcripts, and single exon deletions/duplications in specific exons may not be detected. The test is not intended for detecting duplications of 2 or fewer exons and cannot precisely determine breakpoints for large deletions or duplications.

Test Details