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

This order encompasses multiple components of immunohistochemistry (PD-L1) and molecular testing for EGFR and other related DNA mutation (Iowa Cancer Mutation Profile, LAB8948), and molecular testing for RNA fusions including ALK, ROS1 and MET exon 14 skipping (Lung NSCLC RNA Fusion Panel, LAB8567).

Testing is performed from paraffin-embedded tissue of the tumor.

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: BL1, 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: AKT1, 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.

Fusion transcripts are detected and reported involving rearrangements of these genes: AKT1, ALK, AXL, CCND1, EGFR, FGFR1, FGFR2, FGFR3, MET, NRG1, NTRK1, NTRK2, NTRK3, PPARG, RAF1, RET, and ROS1.

Additional analyses are performed for detection of Microsatellite Instability Status

Testing is not currently validated for mutation load analysis. 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

81445, 81455, 88342, 88341