Formalin Fixed, Paraffin Embedded Tissue Block or 10 unstained 4-8 micron thick sections on non-plus slides and an H&E slide of the tissue, Blood or Bone Marrow Aspirate

Specimen requires 20% or greater tumor cell content.

Collect 3 mL blood -OR- bone marrow in a pink EDTA top tube. Requires dedicated tube for molecular only.

Specimens fixed in B5 fixative or decalcified will not be accepted. Tumor specimens containing less than 20% tumor cells may be unacceptable.

Twice Weekly

10-14 days

The Iowa Cancer Mutation Profiling test is a massively parallel next generation DNA sequencing-based assay that targets cancer-related genes.

Genes with full exonic coverage included in the Iowa Cancer Mutation Profile for the detection of substitutions, small insertions and deletions (indels): APC, ARID1A, ATM, ATR, ATRX, AURKA, BAP1, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CHEK1, CIC, CREBBP, CRKL, DAXX, DDX3X, DICER, DNMT3A, DOT1L, EED, EPHA3, ERRFI1, FAM175A, FANCA, FANCC, FANCD2, FANCI, FANCL, FBXW7, FLT1, FUBP1, GATA3, IGF2, KMT2D, MAPK3, MCL1, MLH1, MRE11A, MSH2, MSH6, NBN, NF1, NF2, NFKBIA, NOTCH1, NOTCH2, NOTCH3, PALB2, PARP1, PHF6, PIK3R1, PIK3R2, PMS2, POLD1, POLE, PTCH1, PTEN, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RNF43, SDHA, SDHB, SDHC, SDHD, SETD2, SIRT2, SLIT2, SLX4, SMARCA4, SMARCB1, SMC1A, SMC3, SOX2, STK11, SUFU, TP53, TRAF7, TSC1, TSC2, ZBTB7A

Genes with hotspot coverage* included in the Iowa Cancer Mutation Profile for the detection of substitutions and small indels in specific regions of listed genes: ABL1, ACVR1, AKT1, AKT2, AKT3, ALK, ANKRD26, AR, ARAF, AXL, BIRC3, BLM, BRAF, BTK, CBL, CCND1, CD28, CDK4, CDK6, CHEK2, CSF1R, CSF3R, CTNNB1, DDR2, DHX15, EGFR, ERBB2, ERBB3, ERBB4, ERCC2, ESR1, ETV6, ETNK1, EZH2, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, FOXL2, GATA1, GATA2, GNA11, GNAQ, GNAS, H3F3A, HIST1H3B, HIST1H3C, HNF1A, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KDR, KLF4, KIT, KNSTRN, KRAS, MAGOH, MAP2K1, MAP2K2, MAP2K4, MAPK1, MAX, MDM4, MED12, MET, MPL, MTOR, MYC, MYCN, MYD88, NFE2L2, NRAS, NTRK1, NTRK2, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PLCG2, PPARG, PPP2R1A, PTPN11, RAC1, RAF1, RET, RHEB, RHOA, ROS1, SETBP1, SF3B1, SMAD4, SMO, SPOP, SRC, SRSF2, STAT3, STAT5B, TERT, TET2, TOP1, TYK2, U2AF1, U2AF2, WT1, XPO1.
*For additional information on gene region coverage, please contact the lab.

Copy Number Variations (CNVs)^ reported for following genes: AAKT1, AKT2, AKT3, ALK, AR, AXL, BRAF, CCND1, CCND2, CCND3, CCNE1, CDK2, CDK4, CDK6, CDKN2A, CDKN2B, EGFR, ERBB2, ESR1, FGF19, FGF3, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, IGF1R, KIT, KRAS, MDM2, MDM4, MET, MYC, MYCL, MYCN, NTRK1, NTRK2, NTRK3, PDGFRA, PDGFRB, PPARG, PIK3CA, PIK3CB, PTEN, RICTOR, SOX2, TERT, TSC1, TSC2.
^Only whole gene copy number changes are tested.

Additional analyses are performed for detection of Microsatellite Instability Status.

Read more....

Testing is not currently validated for mutation load analysis. Large genomic rearrangements (LRG) such as inversions, deletions/duplications spanning several exons, and gene fusions are not detected by this panel. Please contact the laboratory director for questions. Testing is not validated for use on plasma for cell-free tumor DNA mutation testing.

Massively parallel Next Generation DNA sequencing by synthesis, Illumina technology

Specimen requires 20% or greater tumor cell content. Submit formalin fixed paraffin embedded tissue and ten unstained 4 micron-thick sections on non-plus slides.

Testing requires dedicated collection tube.

Refrigerate.

Place specimen into zip-lock type bag, seal bag.
Recommend early AM overnight shipping or equivalent if not on courier service.
Ship refrigerated.
Place requisition into outside pocket of bag.
Protect phlebotomy tube from excessive heat and ship in cooled container during summer months.

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