Genomics and Oncology
Genomics and Oncology
Oncology is one of the areas of medicine most impacted by genomics. Rapid advances in genomic technologies and medical understanding have not only resulted in developments in treatment and management, but have also opened up innumerable possibilities for research that will enable us to understand, and treat, cancers better.
EGFR v2
GFR Mutation Test v2 is a real-time PCR test that identifies 42 mutations in exons 18, 19, 20 and 21 of the epidermal growth factor receptor (EGFR) gene, including the T790M resistance mutation.
It is designed to enable testing of both tissue and plasma specimens with a single kit, and allows labs to run tissue and plasma on the same plate simultaneously. For optimized workflow results, Roche has developed a cell-free DNA (cfDNA) sample preparation kit to optimize extraction of DNA from plasma.
The EGFR Mutation Test v2 not only provides clinicians with the option of using either tissue or plasma as biopsy samples, but it also makes the processing of these samples more convenient and efficient. Using the test in conjunction with the 4800 System, laboratory professionals can mix-batch each run with both sample types and even samples from different patients.
BRAF
4800 BRAF V600 Mutation Test is a real-time polymerase chain reaction (PCR) test for the detection and identification of BRAF V600 mutations in formalin-fixed paraffin-embedded tissue (FFPET) of human melanoma. 4800 BRAF V600 Mutation Test detects BRAF codon 600 mutation V600E and some non-V600E mutations (V600D, V600E2 and V600K), which represents approximately 90{77864ae1b51755bc9ceba7e61780fc2f55b6e503abf75ff2af0a81cc7a3a1e7d} of all BRAF mutations found in melanoma.
It is designed to help select patients for treatment with vemurafenib alone or in combination with cobimetinib, to treat patients whose melanoma tumors harbor a mutated form of the BRAF gene. The test is also intended for use with detecting BRAF V600 mutations in papillary thyroid carcinoma (PTC) tissue.
KRAS
The KRAS Mutation Test detects 19 somatic mutations in codons 12, 13, and 61 of the kirsten rat sarcoma viral oncogene homolog (KRAS) gene in DNA derived from formalin-fixed paraffin-embedded (FFPE) colorectal cancer (CRC) tissues.
Each test comes with liquid, ready-to-use reagents for increased laboratory efficiency. Tests can be performed in <8 hours, allowing results to be reported to the treating physician within a few days from laboratory receipt of specimen.
Specimens are processed using the DNA Sample Preparation Kit1 to extract DNA from FFPE tissue. Mutation detection is achieved through polymerase chain reaction (PCR) analysis with the 480 Analyzer for automated amplification and detection.
Factor II/V
Factor V and II are blood clotting proteins. Variations in these proteins may increase the risk of dangerous cardiovascular events caused by venous thrombosis. In clinical studies, it has been shown that several genetic defects are associated with increased risk of venous thrombosis.
Physicians should consider testing any patient who has had a personal or family history of such events or those at high clinical risk of venous thrombosis, including patients taking medications that are potential contributors