Melanoma: Sequencing Panel

Mutations in the p16 gene (also called CDKN2A or INK4A), are associated with hereditary melanoma and hereditary pancreatic cancer. Changes in the p16 gene increase cancer risk, making a melanoma diagnosis up to 50 times more likely by age 50. Mutations in other genes have also been implicated in the development of melanoma.

BAP1, BRCA2, CDK4, CDKN2A, KIT, MGMT, NRAS, PTEN, RB1, TP53, WRN

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The test is indicated for:

• Individuals with a clinical or suspected diagnosis of melanoma.
  

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient's genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.

• Hereditary Cancer Syndrome: Sequencing Panel.
• Melanoma: Deletion/Duplication Panel.

Requisition Forms

• Exome Test Requisition Form
• Hereditary Cancer Test Requisition Form

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