Hereditary Melanoma Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR77115Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3002673CPT Codes 81167, 81216, 81321, 81323, 81351, 81404, 81479

Hereditary Melanoma Panel, Sequencing and Deletion/Duplication

Also known as: MELCAN NGS

Clinical Use

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Use

The Hereditary Melanoma Panel, Sequencing and Deletion/Duplication test is recommended for individuals with a personal or family history of melanoma. It aims to confirm a hereditary cause of the disease by detecting pathogenic germline variants in multiple genes associated with hereditary melanoma. This testing helps uncover early onset of cancer, multiple primary melanomas, and internal organ malignancies. Genetic consultation is advised, and the test aids in determining if an individual has inherited a predisposition to melanoma or associated syndromes, guiding screening and management decisions.

Special Instructions

Testing minors for adult-onset conditions is not recommended without prior approval. Specimens from New York clients will be sent to a New York state-approved laboratory. Submit Hereditary Cancer Testing Patient History Form and Informed Consent for Genetic Testing for NY patients.

Limitations

A negative result does not exclude a heritable form of melanoma or other cancer. The test detects variants within the coding regions and intron-exon boundaries. Deletions of 2 exons or larger, or duplications of 3 exons or larger are detected at varying sensitivities. Single exon deletions are detected with limited sensitivity. Regulatory and deep intronic region variants will not be identified. Additionally, low-level mosaic or somatic variants, gene conversion events, and certain regions may have reduced sequencing sensitivity or are not sequenced due to technical limitations. This test was developed as a laboratory-developed test at ARUP Laboratories and is not FDA approved.

Test Details