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 CAREâ„¢ | 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) |