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Tumour Profiling Services from Caris Molecular Intelligence®

Multi-platform, solid tumour biomarker analysis for therapeutic decision support.

  • Chemotherapy
  • Immunotherapy
  • Targeted Therapy
  • Protein Expression via IHC
  • DNA Analysis via Pyro Sequencing
  • DNA/RNA Analysis via Fragment Analysis
  • Molecular Analysis via Next-Generation Sequencing: 592 Genes
  • Clinical Trial Opportunities

Technical Specifications

Sufficient tumour must be present to complete all analysis. If you have any questions, please contact our AUS/NZ distributor Precision Oncology on +61 8 6245 2020.

Technical Information IHC CISH FISH
Sample Requirements

(see requsition for full details)

1 unstained slide at 4μm thickness from FFPE block, with evaluable tumour present, per IHC test 1 unstained slide at 4μm thickness from FFPE block, with at least 20-100 evaluable tumour cells present, per CISH test 2 unstained slides at 4μm thickness from FFPE block, with at least 100 evaluable cells present and 10% tumour, per FISH test
Sensitivity/Specificity >95% >95% >95%
Technical Information Next-Generation Sequencing
Mutations and Copy Number Variations (DNA) Fusions (RNA)
Sample Requirements FFPE block or 10 unstained slides with a minimum of 20% malignant origin. Needle biopsy is also acceptable (4-6 cores). FFPE block or 2-5 unstained slides with a minimum of 20% malignant origin. Needle biopsy is also acceptable (4-6 cores).
Tumour Enrichment
(when necessary)
Microdissection to isolate and increase the number of cancer cells to improve test performance and increase the chance for successful testing from small tumour samples.
PPV > 99% > 98%
Sensitivity > 99% for base substitutions at ≥ 5% mutant allele frequency;
> 99% for indels at ≥ 5% mutant allele frequency;
> 95% for copy number variations (amplifications ≥ 6 copies)
> 97%
Average Depth of Coverage (DNA) Average Depth/Count (RNA) > 750X > 30,000 Unique RNA Fragments
Number of Genes 592 genes 53 genes
Genomic Signatures Microsatellite Instability (MSI),
Tumour Mutational Burden (TMB)

Biomarker Analysis by Tumour Type

The information below details the biomarkers analysed by technology for the tumour type submitted. Before ordering testing services, please refer to the profile menu online (www.CarisMolecularIntelligence.com/profiling-menu) to view the most up-to-date listing of biomarkers that will be performed. Tests may vary if insufficient tumour samples are submitted.

MI Profile™
Tumour Type Immunohistochemistry (IHC) Next-Generation Sequencing (NGS)
(see below for gene list)
Other
DNA Genomic Signatures
(DNA)
RNA
Bladder AR, ER, Her2/Neu, MMR, PD-L1, PR Mutation, CNA Analysis MSI, TMB Fusion Analysis
Breast AR, ER, Her2/Neu, MMR, PD-L1, PR, PTEN, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis Her2, TOP2A (Chromogenic in situ Hybridization)
Cancer of Unknown Primary ALK, AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Cervix AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Cholangiocarcinoma/ Hepatobiliary AR, ER, Her2/Neu, MMR, PD-L1, PR Mutation, CNA Analysis MSI, TMB Fusion Analysis Her2 (Chromogenic in situ Hybridization)
Colorectal and Small Intestinal AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Endometrial AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Esophageal SCC AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Gastric AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis Her2 (Chromogenic in situ Hybridization)
GIST AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Glioma AR, ER, MMR, PD-L1, PR Mutation, CNA Analysis MSI, TMB Fusion Analysis MGMT Methylation
(Pyrosequencing)
Head & Neck AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Kidney AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Melanoma AR, ER, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Merkel Cell MMR, PD-L1, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Neuroendocrine/Small Cell Lung AR, ER, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Non-Small Cell Lung ALK, AR, ER, Her2/Neu, MMR, PD-L1, PR Mutation, CNA Analysis MSI, TMB Fusion Analysis
Ovarian AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Pancreatic AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Prostate AR, ER, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Salivary Gland AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Sarcoma AR, ER, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis
Thyroid AR, ER, Her2/Neu, MMR, PD-L1, PR Mutation, CNA Analysis MSI, TMB Fusion Analysis
Uterine Serous AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis Her2 (Chromogenic in situ Hybridization)
Other Tumours AR, ER, Her2/Neu, MMR, PD-L1, PR, TRKA/B/C Mutation, CNA Analysis MSI, TMB Fusion Analysis

MMR = Mismatch Repair proteins: MLH1, MSH2, MSH6, PMS2

For PD-L1 IHC testing, Dako antibody 22c3 is run for all NSCLC, Cervical, Gastric and Gastroesophageal Junction (GEJ) cancers. 22c3 will be added to Bladder cancers with a CPS score, run side-by-side with SP142. Dako antibody 22c3 is available upon request for other tumour types. For TRK IHC positive results, reflex Fusion testing will be performed.

Next-Generation Sequencing Expanded NGS Gene List

Genomic Signatures (DNA)
Microsatellite Instability (MSI) Tumour Mutational Burden Burden (TMB)
Point Mutations and Indels (DNA)
ABI1 CEBPA GPC3 KLF4 NUTM2B SFPQ
ABL1 CHCHD7 HEY1 KLK2 OLIG2 SLC45A3
ACKR3 CNOT3 HIST1H3B LASP1 OMD SMARCA4
AKT1 COL1A1 HIST1H4I LMO1 P2RY8 SOCS1
AMER1 (FAM123B) COX6C HLF LMO2 PAFAH1B2 SOX2
AR CRLF2 HMGN2P46 MAFB PAK3 SPOP
ARAF DDB2 HNF1A MAX PATZ1 SRC
ATP2B3 DDIT3 HOXA11 MECOM PAX8 SSX1
ATRX DNM2 HOXA13 MED12 PDE4DIP STAG2
BCL11B DNMT3A HOXA9 MKL1 PHF6 TAL1
BCL2 EIF4A2 HOXC11 MLLT11 PHOX2B TAL2
BCL2L2 ELF4 HOXC13 MN1 PIK3CG TBL1XR1
BCOR ELN HOXD11 MPL PLAG1 TCEA1
BCORL1 ERCC1 HOXD13 MSN PMS1 TCL1A
BRD3 ETV4 HRAS MTCP1 POU5F1 TERT
BRD4 FAM46C IKBKE MUC1 PPP2R1A TFE3
BTG1 FANCF INHBA MUTYH PRF1 TFPT
BTK FEV IRS2 MYCL (MYCL1) PRKDC THRAP3
C15orf65 FOXL2 JUN NBN RAD21 TLX3
CBLC FOXO3 KAT6A (MYST3) NDRG1 RECQL4 TMPRSS2
CD79B FOXO4 KAT6B NKX2-1 RHOH UBR5
CDH1 FSTL3 KCNJ5 NONO RNF213 VHL
CDK12 GATA1 KDM5C NOTCH1 RPL10 WAS
CDKN2B GATA2 KDM6A NRAS SEPT5 ZBTB16
CDKN2C GNA11 KDSR NUMA1 SEPT6 ZRSR2
Point Mutations, Indels and Copy Number Alterations
ABL2 CDKN1B FAS KMT2A (MLL) PALB2 SLC34A2
ACSL3 CDKN2A FBXO11 KMT2C (MLL3) PAX3 SMAD2
ACSL6 CDX2 FBXW7 KMT2D (MLL2) PAX5 SMAD4
ADGRA2 CHEK1 FCRL4 KNL1 PAX7 SMARCB1
AFDN CHEK2 FGF10 KRAS PBRM1 SMARCE1
AFF1 CHIC2 FGF14 KTN1 PBX1 SMO
AFF3 CHN1 FGF19 LCK PCM1 SNX29
AFF4 CIC FGF23 LCP1 PCSK7 SOX10
AKAP9 CIITA FGF3 LGR5 PDCD1 (PD1) SPECC1
AKT2 CLP1 FGF4 LHFPL6 PDCD1LG2 (PDL2) SPEN
AKT3 CLTC FGF6 LIFR PDGFB SRGAP3
ALDH2 CLTCL1 FGFR1 LPP PDGFRA SRSF2
ALK CNBP FGFR1OP LRIG3 PDGFRB SRSF3
APC CNTRL FGFR2 LRP1B PDK1 SS18
ARFRP1 COPB1 FGFR3 LYL1 PER1 SS18L1
ARHGAP26 CREB1 FGFR4 MAF PICALM STAT3
ARHGEF12 CREB3L1 FH MALT1 PIK3CA STAT4
ARID1A CREB3L2 FHIT MAML2 PIK3R1 STAT5B
ARID2 CREBBP FIP1L1 MAP2K1 (MEK1) PIK3R2 STIL
ARNT CRKL FLCN MAP2K2 (MEK2) PIM1 STK11
ASPSCR1 CRTC1 FLI1 MAP2K4 PML SUFU
ASXL1 CRTC3 FLT1 MAP3K1 PMS2 SUZ12
ATF1 CSF1R FLT3 MCL1 POLE SYK
ATIC CSF3R FLT4 MDM2 POT1 TAF15
ATM CTCF FNBP1 MDM4 POU2AF1 TCF12
ATP1A1 CTLA4 FOXA1 MDS2 PPARG TCF3
ATR CTNNA1 FOXO1 MEF2B PRCC TCF7L2
AURKA CTNNB1 FOXP1 MEN1 PRDM1 TET1
AURKB CYLD FUBP1 MET PRDM16 TET2
AXIN1 CYP2D6 FUS MITF PRKAR1A TFEB
AXL DAXX GAS7 MLF1 PRRX1 TFG
BAP1 DDR2 GATA3 MLH1 PSIP1 TFRC
BARD1 DDX10 GID4 (C17orf39) MLLT1 PTCH1 TGFBR2
BCL10 DDX5 GMPS MLLT10 PTEN TLX1
BCL11A DDX6 GNA13 MLLT3 PTPN11 TNFAIP3
BCL2L11 DEK GNAQ MLLT6 PTPRC TNFRSF14
BCL3 DICER1 GNAS MNX1 RABEP1 TNFRSF17
BCL6 DOT1L GOLGA5 MRE11 RAC1 TOP1
BCL7A EBF1 GOPC MSH2 RAD50 TP53
BCL9 ECT2L GPHN MSH6 RAD51 TPM3
BCR EGFR GRIN2A MSI2 RAD51B TPM4
BIRC3 ELK4 GSK3B MTOR RAF1 TPR
BLM ELL H3F3A MYB RALGDS TRAF7
BMPR1A EML4 H3F3B MYC RANBP17 TRIM26
BRAF EMSY HERPUD1 MYCN RAP1GDS1 TRIM27
BRCA1 EP300 HGF MYD88 RARA TRIM33
BRCA2 EPHA3 HIP1 MYH11 RB1 TRIP11
BRIP1 EPHA5 HMGA1 MYH9 RBM15 TRRAP
BUB1B EPHB1 HMGA2 NACA REL TSC1
CACNA1D EPS15 HNRNPA2B1 NCKIPSD RET TSC2
CALR ERBB2 (HER2/NEU) HOOK3 NCOA1 RICTOR TSHR
CAMTA1 ERBB3 (HER3) HSP90AA1 NCOA2 RMI2 TTL
CANT1 ERBB4 (HER4) HSP90AB1 NCOA4 RNF43 U2AF1
CARD11 ERC1 IDH1 NF1 ROS1 USP6
CARS ERCC2 IDH2 NF2 RPL22 VEGFA
CASP8 ERCC3 IGF1R NFE2L2 RPL5 VEGFB
CBFA2T3 ERCC4 IKZF1 NFIB RPN1 VTI1A
CBFB ERCC5 IL2 NFKB2 RPTOR WDCP
CBL ERG IL21R NFKBIA RUNX1 WIF1
CBLB ESR1 IL6ST NIN RUNX1T1 WISP3
CCDC6 ETV1 IL7R NOTCH2 SBDS WRN
CCNB1IP1 ETV5 IRF4 NPM1 SDC4 WT1
CCND1 ETV6 ITK NSD1 SDHAF2 WWTR1
CCND2 EWSR1 JAK1 NSD2 SDHB XPA
CCND3 EXT1 JAK2 NSD3 SDHC XPC
CCNE1 EXT2 JAK3 NT5C2 SDHD XPO1
CD274 (PDL1) EZH2 JAZF1 NTRK1 SEPT9 YWHAE
CD74 EZR KDM5A NTRK2 SET ZMYM2
CD79A FANCA KDR (VEGFR2) NTRK3 SETBP1 ZNF217
CDC73 FANCC KEAP1 NUP214 SETD2 ZNF331
CDH11 FANCD2 KIAA1549 NUP93 SF3B1 ZNF384
CDK4 FANCE KIF5B NUP98 SH2B3 ZNF521
CDK6 FANCG KIT NUTM1 SH3GL1 ZNF703
CDK8 FANCL KLHL6
Gene Fusions (RNA)
AKT3 FGR ETV6 NOTCH1 PDGFRB ROS1
ALK FGFR1 INSR NOTCH2 PIK3CA RSPO2
ARHGAP26 FGFR2 MAML2 NRG1 PKN1 RSPO3
AXL FGFR3 MAST1 NTRK1 PPARG TERT
BRAF ERG MAST2 NTRK2 PRKCA TFE3
BRD3 ESR1 MET NTRK3 PRKCB TFEB
BRD4 ETV1 MSMB NUMBL RAF1 THADA
EGFR ETV4 MUSK NUTM1 RELA TMPRSS2
EWSR1 ETV5 MYB PDGFRA RET
Variant Transcripts (RNA)
EGFR vIII MET Exon 14 Skipping
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