Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR55183Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001633CPT Codes 81201, 81203, 81403, 81404, 81405, 81406, 81407, 81408, 81479

Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication

Also known as: CNSCAN NGS

Clinical Use

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Use

This test is recommended to confirm a hereditary cause of central nervous system (CNS) cancer in individuals with a personal or family history of the condition. Hereditary cancer predisposition is often characterized by early age of onset (typically before age 50), the presence of any number of CNS tumors in a single individual or closely related family member(s), and variable systemic manifestations. Approximately 5% of CNS tumors are associated with a hereditary cause, and pathogenic germline variants in multiple genes have been implicated in hereditary CNS tumors and cancer.

Special Instructions

Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For New York clients, specimens will be sent to a New York state-approved lab. The test requires a Hereditary Cancer Testing Patient History Form and informed consent for genetic testing (required for NY patients).

Limitations

A negative result does not exclude a heritable form of CNS cancer or other cancer. This panel covers coding regions and exon-intron boundaries of targeted genes; deletions/duplications/insertions may not be detected by massively parallel sequencing. Some regions have reduced sensitivity due to technical limitations, and certain exons are not covered due to assay limitations. This test is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA variants, or repeat expansions. Noncoding transcripts were not analyzed.

Test Details