Melanoma Mutation Profiling
6004 BT GH
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.
Approximately 3000 cells/nuclei are necessary for testing with at
least a 20% tumor cell component.
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.
Bi-weekly - Batch analysis performed twice weekly excluding university holidays.
7-10 working days
Negative for Pathologic variants.
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.
Massively parallel Next Generation DNA sequencing by synthesis,
semiconductor technology, Ion Personal Genomics Machine