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Table 1 Commercially available IVD tests by the type of methylation-based biomarker use

From: Current status of development of methylation biomarkers for in vitro diagnostic IVD applications

Test name Type of cancer Methylation biomarker Detection technology Biosample (as referenced by manufacturer) Manufacturer/Distributor Type of approval (year)
Diagnostic biomarkers
Cologuard® Colorectal cancer BMP3, NDRG4 (+ KRAS seven point mutations) QuARTSTM Stool Exact Sciences Co., Madison, WI, USA FDA (2014)
Epi proColon® Colorectal cancer SEPT9 Real-time PCR with fluorescent hydrolysis probe Plasma Epigenomics AG, Berlin, Germany FDA (2016)
Real Time mS9 CRC Assay Colorectal cancer SEPT9 Real-time PCR Plasma Abbott Laboratories, Chicago, IL, USA CE (2010)
EarlyTect® Colon Cancer Colorectal cancer SDC2 Qualitative methylation-specific real-time PCR Stool Genomictree Inc., Daejeon, South Korea CE (2017)
HCCBloodTest Hepatocellular carcinoma SEPT9 Real-time PCR with fluorescent hydrolysis probe Plasma Epigenomics AG, Germany CE (2019)
No commercial name available Hepatocellular carcinoma DAB2IP, EMX1, HOXA1, TSPYL5 (+ two proteins: AFP and lectin bound AFP) QuARTSTM Blood Exact Sciences Co., Madison, WI, USA Breakthrough Device designation (2019)
IvyGene Dx Liver Cancer Test Hepatocellular carcinoma Not provided Targeted next-generation sequencing Plasma Laboratory for Advanced Medicine Inc., Irvine, CA, USA Breakthrough Device designation (2019)
Epi proLung® Lung cancer SHOX2, PTGER4 Real-time PCR with fluorescent hydrolysis probe Plasma Epigenomics AG, Berlin, Germany CE (2017)
AssureMDx Bladder cancer OTX1, ONECUT2, TWIST1 (+ mutations in: FGFR3, TERT, HRAS) Multiplex SNaPshot® assay Voided urine MDxHealth, Irvine, CA, USA LDT (2017)
Bladder CARE Bladder cancer SOX1, IRAK3, LINE1 MSRE-qPCR Voided urine Pangea Laboratory, Costa Mesa, CA, USA LDT (2019)
ConfirmMDx Prostate cancer GSTP1, RASSF1, APC Multiplexed quantitative DNA methylation-specific PCR Prostate biopsy MDxHealth, Irvine, CA, USA LDT (2012)
GynTect® Cervical cancer ASTN1, DLX1, ITGA4, RXFP3, SOX17, ZNF671 Methylation-specific real-time PCR Cervical smear Oncognostic GmbH, Jena, Germany CE (2019)
QIAsure Methylation Test Kit Cervical cancer FAM19A4, MIR124-2 Multiplex real-time PCR Cervical/vaginal specimens QIAGEN GmbH, Hilden, Germany CE (2016)
PAX1 DNA Detection Kit Cervical cancer PAX1 Real-time PCR Cervical/oral scrapes iStat Biomedical Co. Ltd., New Taipei City, Taiwan CE (2016)
ZNF582 DNA Detection Kit Cervical cancer ZNF582 Real-time PCR Cervical/oral scrapes iStat Biomedical Co. Ltd., New Taipei City, Taiwan CE (2016)
GRAIL Cancer regardless of its type Multiple CpG sites Whole-genome bisulfite sequencing Blood GRAIL Inc., Menlo Park, California, USA Breakthrough Device designation (2019)
IvyGene® Cancer Blood Test Cancer regardless of its type MYO1G, TNFAIP8L2 Targeted next-generation sequencing Plasma Laboratory for Advanced Medicine Inc., Irvine, CA, USA LDT (2018)
Disease management biomarkers
therascreen® MGMT Pyro® Kit Glioblastoma MGMT Pyrosequencing® FFPE tumor tissue QIAGEN GmbH, Hilden, Germany CE (2012)
Human MGMT Gene Methylation Detection Kit Glioblastoma MGMT PAP-ARMS® FFPE tumor tissue Xiamen SpacegenCo., Ltd., Xiamen, China CE (2016)
MGMT Methylation Detection Kit Glioblastoma MGMT Real-time PCR with fluorescent hydrolysis probes and methylation-specific primers Fresh frozen or FFPE tumor tissue EntroGen, Inc., Los Angeles, CA, USA CE (2018)
PredictMDx Glioblastoma MGMT Quantitative methylation-specific PCR FFPE tumor tissue LabCorp, Burlington, NC, USA LDT (2012)
therascreen® PITX2 RGQ PCR Kit Breast cancer PITX2 Real-time PCR with fluorescent hydrolysis probes and methylation-unspecific primers FFPE tumor tissue QIAGEN GmbH, Hilden, Germany CE (2018)
EPICUP® Cancers of unknown primary site Multiple CpG sites MethylationEPIC 850K array (Illumina, San Diego, CA, USA) Fresh frozen or FFPE tumor biopsy Grupo Ferrer Internacional SA, Barcelona, Spain CE (2015)
Post-treatment monitoring biomarkers
COLVERATM Colorectal cancer IZKF1, BCAT1 Multiplex real-time PCR Plasma Clinical Genomics PathologyInc, Bridgewater, NJ, USA LDT (2016)
Bladder EpiCheck® Bladder cancer 15 methylation biomarkers* MSRE-qPCR Voided urine Nucleix Ltd., Rehovot, Israel CE (2017)
  1. QuARTSTM quantitative allele-specific real-time target and signal amplification, MSRE-qPCR methylation-sensitive restriction enzyme followed by real-time PCR, PAP-ARMS® technology combination of pyrophosphorolysis-activated polymerization reaction (PAP) and amplification refractive mutation system (ARMS)
  2. *Patent application nr US9458503B2