Genomic Assays by Mutations

The EGFR gene encodes a receptor tyrosine kinase that plays a key role in regulating cell growth and survival. Oncogenic mutations in EGFR can lead to continuous kinase activation, driving cancer development, particularly in non-small cell lung cancer (NSCLC) and other epithelial tumors.  

Detection of fourteen exon 19 deletions, two exon 20 insertions, and five point mutations  

• By PCR (therascreen EGFR RGQ PCR Kit) 
• Using DNA extracted from FFPE samples 
• Qualitative in vitro diagnostic test 
• Five point mutations: L858R, T790M, L861Q, G719A and S768I 

Detection of multiple exon 19 deletions, exon 20 insertions, and five point mutations  

• By PCR (cobas® EGFR Mutation Test) 
• Using DNA extracted from FFPE samples and ctDNA from plasma 
• Semi-quantitative test for ctDNA samples 
• Five point mutations: G719X, T790M, S768I, L861Q and L858R 

Detection deletions and mutation for NSCLC patient management is available with the oncoReveal™ CDx assay. 

The KRAS gene encodes a small GTPase that functions as a molecular switch to regulate cell proliferation, survival, and cytoskeletal organization. Oncogenic mutations in KRAS lock the protein in an active state, leading to persistent signaling and contributing to cancers such as colorectal (CRC) and non-small cell lung cancer (NSCLC).  

Discriminate between KRAS wild-type and KRAS mutant tumors, and detection of seven mutations in codons 12 and 13  

• By PCR (therascreen KRAS RGQ PCR Kit) 
• Using DNA extracted from FFPE samples 
• Qualitative in vitro diagnostic test 
• Seven mutations: G12A, G12D, G12R, G12C, G12S, G12V, G13D 

Detection of mutations in codons 12, 13, and 61 

• By PCR cobas® KRAS Mutation Test 
• Using DNA extracted from FFPE samples 

Detection of mutations for CRC patient management is available with the oncoReveal™ CDx assay.  

The BRAF gene encodes a kinase involved in highly regulated signaling pathways that mediates the effects of growth factor receptors such as EGFR.  Oncogenic mutations in BRAF can lead to uncontrolled pathway activation, contributing to the development of various cancers, including melanoma, colorectal cancer, ovarian cancer, and thyroid cancer. 

Detection of BRAF – V600E in colorectal tumor samples 

• By PCR (therascreen BRAF V600E RGQ PCR Kit) 
• Using DNA extracted from FFPE CRC tumor samples 
• Qualitative in vitro diagnostic test 

Detection of BRAF – V600E   

• By PCR (cobas® BRAF Mutation Test) 
• Using DNA extracted from FFPE samples (CRC, melanoma…) 
• Qualitative test 

The FGFR gene family encodes transmembrane receptor tyrosine kinases that activate key signaling pathways controlling cell growth, survival, and migration. Oncogenic alterations in FGFR can lead to abnormal pathway activation, contributing to tumor development in cancers such as urothelial carcinoma (UC).  

Detection of point mutations in exon7, exon 10, p.Y373C, and two fusions 

• By PCR (therascreen FGFR RGQ PCR Kit) 
• Using RNA extracted from FFPE samples 
• Qualitative in vitro diagnostic test 
• Mutations in exon 7: p.R248C (c.742C>T), p.S249C (c.746C>G) 
• Mutations in exon 10: p.G370C (c.1108G>T) and p.Y373C (c.1118A>G) 
• Two fusions: FGFR3:TACC3v1 and FGFR3:TACC3v3 

The PIK3CA gene encodes a catalytic subunit of the PI3K enzyme, which is involved in regulating cell growth, survival, metabolism, and migration. Activating mutations in PIK3CA can lead to increased PI3K signaling, driving the development of various cancers, particularly hormone receptor-positive breast cancer.  

Detection of mutations in exons 7, 9, 15 and 20 

• By PCR (therascreen PI3KCA RGQ PCR Kit) 
• Using DNA extracted from FFPE samples and ctDNA from plasma 
• Qualitative in vitro diagnostic test
• Mutations in exons 7, 9, 20: C420R, E542K, E545A, E545D [1635G>T only], E545G, E545K, Q546E, Q546R, H1047L, H1047R, H1047Y 

Looking at several mutations at the same time? Discover which assay would be best for you.