Melanoma Mutation Profiling
Label Mnemonic: MMP
Epic Lab Code: LAB8307
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Formalin Fixed, Paraffin Embedded Tissue Block
10 unstained 5-10 μM slides at 20-25°C and an H&E slide of the tissue, or Papanicolaou stained slide with at least 3000 cells, or Diff-Quik stained slides with at least 3000 cells present.
Minimum:
Approximately 3000 cells/nuclei are necessary for testing with at least a 20% tumor cell component.
Rejection Criteria:
Specimens that have been decalcified or fixed in B5 fixative will not be accepted. Tumor specimens with inadequate cellular material or a tumor percentage will be rejected.
Testing Schedule:
Bi-weekly - Batch analysis performed twice weekly excluding university holidays.
Turn Around Time:
7-10 working days
Reference Range:
Negative for Pathologic variants.
Comments:
This test evaluates DNA nucleotide variants and small insertions/deletions in targeted regions of 25 cancer associated genes for the purposes of diagnosis and informing therapeutic decisions including clinical trial eligibility. The test is designed for use in the setting of malignant melanoma of any site including non-chronically sundamaged skin, acral sites, mucosal sites, and uveal melanoma. The assay can also be applied to detect variants in any solid tumor for which the targets are applicable.

Gene list: BRAF (including codon V600), AKT1, BAP1, CDKN2A, CTNNB1, EIF1AX, ERBB4, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, HRAS, KIT, MET, NRAS, PDGFRA, PIK3CA, PTEN, RAF1, RB1, SF3B1, STK19, TP53, and TRRAP.
Methodology:
Massively parallel Next Generation DNA sequencing by synthesis, semiconductor technology, Ion Personal Genomics Machine
CPT Code:
81445