Hereditary Melanoma Panel, Sequencing and Deletion/Duplication
Also known as: MELCAN NGS
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
Not provided.
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.
Methodology
NGS
Biomarkers
LOINC Codes
- 66746-9 - Specimen type
- 50398-7 - Narrative diagnostic report-Imp
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B). New York State Clients: Lavender (EDTA).
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
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