Who would request this test?
Oncologists or Pathologists
How to order the test?
Contact Client Services – 866-844-2522 or
Refer to the following test entries in the UIDL Test Directory:
LAB8948 – Iowa Cancer Mutation Profile with Interpretation
LAB8955 – Iowa Cancer Mutation and RNA Fusion Profile with Interpretation
LAB8580 – Comprehensive Lung Panel Order
Expanded cancer molecular biomarker testing will be available from the Molecular Pathology Laboratory for identification of DNA variations in up to 214 genes and include evaluation for copy number alterations in a subset of those genes. The EPIC order for the DNA analysis is the Iowa Cancer Mutation Profile with interpretation (LAB8948). This change will impact testing by expanding the gene list included in the orders for both the Iowa Cancer Mutation and RNA Fusion Profile (LAB8955) and the Comprehensive Lung Panel (LAB8580). These comprehensive panels should be used for detecting mutations in cancer to help in determining therapy options and combine the expanded panel of DNA variations with RNA fusion detection using next generation sequencing.
Key features:
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: 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.
Specimen types: Formalin-fixed, paraffin-embedded tissue or cytology fine needle aspirate smears stained or unstained; 5000 tumor cells minimum requirement, or ≥20% tumor cells from tissue sections, bone marrow aspirates collected in EDTA, minimum 3 mL, blood collected in EDTA, minimum 3 mL.
Method: DNA and RNA based next-generation sequencing. Testing is batched. Turnaround time is 10-14 days.
Results Reported: RNA Fusion or DNA variants detected.
Limitations: 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