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OnkoSightTM Next-Generation Sequencing (NGS) Tumor Mutation Burden

The significance of Tumor Mutation Burden (TMB) as a critical molecular biomarker in clinical oncology is being increasingly recognized. High levels of TMB have been reported to positively predict favorable therapeutic response to immune checkpoint inhibitor agents across tumor types. High TMB levels are known to be especially prevalent among non-small cell lung cancer (NSCLC), melanoma, squamous cell carcinoma of the head and neck, and urothelial carcinoma, among others.

OnkoSightTM NGS tumor mutation burden assay requires a minimal sample of 10-20ng and can interrogate ~1.7MB of the genome, thus increasing accuracy.

Test Codes:
• TG47-6 Tumor Mutation Burden (Non-NY)
• TG48-4 Tumor Mutation Burden (NY)

Specimen Requirement:
Can accept FFPE blocks, Cytology smear slides (Diff Quick, Papanicolau stained smears).
If no FFPE block, prefer minimum 4-5 histologic slides.

TAT:
7-10 days from receipt of specimen at the lab

OnkoSight NGS Tumor Mutation Burden Sample Report

Reportable Range Reference Gene List

ABL2CD79AEPHB1GRM8LIFRMYH9PMS1SOX2WASGNASATRX
ACVR2ACD79BEPHB4GUCY1A2LPHN3NCOA1POT1SSX1WHSC1HFN1ABAP1
ADAMTS20CDC73EPHB6HCAR1LPPNCOA2POU5F1STK36WRNHRASCDK12
AFF1CDH1ERCC1HIF1ALRP1BNCOA4PPARGSUFUXPAIDH1CDKN2A
AFF3CDH11ERCC3HLFLTFNFKB1PPP2R1ASYKXPCIDH2CDKN2B
AKAP9CDH2ERCC4HOOK3LTKNFKB2PRDM1SYNE1XPO1JAK2CEBPA
APCCDH20ERCC5HSP90AA1MAFNINPRKAR1ATAF1XRCC2KORCHEK1
ARID2CDH5ERGHSP90A81MAFBNKX2-1PRKDCTAF1LZNF384KITCHEK2
ARNTCDK8ETS1ICKMAGEA1NLRP1PSIP1TAL1ZNF521KRASCREBBP
ATF1CDKN2CETV1IGF1RMAGl1NOTCH4PTGS2TBX22ABL1MAP2K1DNMT3A
AURKACICETV4IGF2MALT1NSD1PTPRDTCF12AKT1MAP2K2FANCA
AURKBCKS1BEXT1IGF2RMAML2NUMA1PTPRTTCF3AKT2MAP2K4FANCD2
AURKCCMPK1EXT2IKBKBMAP3K7NUP214RALGDSTCF7L1AKT3MAPK1FBXW7
BAI3COL1A1FAM123BIKBKEMAPK8NUP98RARATCF7L2ALKMETMLH1
BCL10CRBNFANCCIKZF1MARK1PAK3RECQL4TCL1AARMPLMSH2
BCL11ACREB1FANCFIL2MARK4PARP1RELTET1AXLMTORMSH6
BCL11BCRKLFANCGIL21RMBD1PAX3RHOHTFE3BRAFMTCNBN
BCL2CRTC1FANCJIL6STMCL1PAX5RNASELTGFBR2CBLMYCNNF1
BCL2L1CSMD3FASIL7RMDM2PAX7RNF2TGM7CCND1NFE2L2NF2
BCL2L2CTNNA1FHING4MDM4PAX8RNF213THBS1CDK4NRASNOTCH1
BCL3CTNNB1FLCNIRF4MEN1PBRM1RPS6KA2TIMP3CDK6NTRK1NOTCH2
BCL6CYLDFLl1IRS2MITFPBX1RRM1TLR4CSF1RNTRK3NPM1
BCL9CYP2C19FLT1ITGA10MLLPDE4DIPRUNX1T1TLX1DDR2PDGFRAPALB2
BCRCYP2D6FLT4ITGA9MLL2PDGFBSAMD9TNFAIP3EGFRPDGFRBPIK3R1
B1RC2DAXXFN1ITGB2MLL3PER1SBDSTNFRSF14ERBB2PIK3CAPMS2
B1RC3DCCFOXL2ITGB3MLL10PGAP3SDHATNK2ERBB3PIK3CBPTCH1
B1RC5DDB2FOXO1JAK1MMP2PHOX2BSDHBTOP1ERBB4PTPN11PTEN
BLMDDIT3FOXO3JAK3MN1PIK3C2BSDHCTPRERCC2RAF1RADSO
BLNKDEKFOXP1JUNMRE11APIK3CDSDHDTRIM24ESR1RETRB1
BMPR1ADICER1FOXP4KAT6AMTRPIK3CGSEPT9TRIM33EZH2ROS1RUNX1
BRD3DPYDFZR1KAT6BMTRRPIK3R2SGK1TRIP11FGFR1SF3B1SETD2
BTKDSTG6PDKDM5CMUC1PIM1SH2D1ATRRAPFGFR2SMOSMARCA4
BUB1BEML4GATA1KDM6AMUTYHPKHD1SMAD2TSHRFGFR3SRCSMARCB1
CARD11EP300GATA2KEAP1MYBPLAG1SMAD4UBR5FGFR4ARID1ASTK11
CASC5EP400GATA3KLF6MYCL1PLCG1SMUG1UGT1A1FLT3ASXL1TET2
CCND2EPHA3GDNFLAMP1MYD88PLEKHGSSOCS1USP9XGNA11ATMTP53
CCNE1EPHA7GPR124LCKMYH11PMLSOX11VHLGNAQATRTSC1
TSC2WT1
Reference

  1. Stenzinger A, Allen JD, Maas J et al., Tumor Mutation Burden Standardization initiatives: Recommendations for consistent tumor mutational burden assessment in clinical samples to guide immunotherapy treatment decision Gene Chromosomes Cancer 2019 Aug:58(8):578-588 doi:10.1002/gcc.22733 Epub 2019 Mar 7
  2. Buttner et al (2019) ESMO Open. Jan 24; 4(1).
  3. Hellman et al (2018) New England Journal of Medicine 378 (22): 2093-2104
  4. Ready, K et al (2019). Journal of Clinical Oncology 37 (12): 992-1000
  5. Rizvi et al. (2015). Science 348 (6230): 124-128
  6. Journal for Immunotherapy for Cancer 2018, 6 (Suppl 2):O48