Genetics and genomics is the study of the genome (i.e. all genes expressed in a cell, tissue, organism, or a sample of body fluids). It is based on the use of DNA extraction, amplification and sequencing methods. This holistic approach leads to a better understanding of the genetic roots of diseases (e.g. by identifying genetic mutations), and can also contribute to biomarker discovery through mapping gene expression changes.
IVD - Roche-Approved Diagnostics Assay
The cobas® oncology tests are built on a foundation of diagnostic accuracy, turnaround time and reliability. Our clinically validated and IVD-approved diagnostic assays provide the confidence to make patient therapy decisions both personal and actionable.
- cobas® EGFR v2 mutation test
- cobas® KRAS mutation test
- cobas® BRAF V600 mutation kit
- cobas® Factor II and Factor V Test
cobas® EGFR Mutation Test v2
The cobas® EGFR Mutation Test v2 identifies mutations in the epidermal growth factor receptor (EGFR) gene in tumour tissue DNA or circulating-free tumour DNA (cfDNA) from non-small cell lung cancer (NSCLC) patients and is intended to be used as an aid in identifying patients with NSCLC for therapy with the EGFR tyrosine kinase inhibitors (TKI) Tarceva® or TAGRISSO™. The test utilizes tissue samples that have been formalin-fixed and paraffin embedded or plasma samples.
With clear, actionable results, the cobas® EGFR Mutation Test v2 gives clinicians the information needed to make confident treatment decisions.
Features and Benefits
- The cobas® EGFR Mutation Test v2 identifies 42 mutations in exons 18, 19, 20 and 21 of the EGFR gene using tissue and liquid biopsy (plasma) as a sample
- The cobas® EGFR Mutation Test v2 can generate test results in less than 4 hours with plasma and less than 8 hours with tissue
- 1 test, 2 sample types: Mix batch plasma and tissue biopsy samples for greater flexibility
- Automated result interpretation and test reporting provide consistent, objective and reproducible results from laboratory to laboratory
- The Semi-Quantitative Index (SQI) is a new feature included in the analysis report of the cobas®EGFR Mutation Test v2. The SQI is a measure of the amount of mutant cfDNA in a sample and can be used to measure differences in mutation load over time. An increase or decrease in the SQI value indicates a respective change in the amount of corresponding target mutation in an individual patient.
- Sample preparation for the cobas® EGFR Mutation Test v2 is manual.
- For tissue testing, Roche recommends the cobas® DNA Sample Preparation Kit
- For liquid biopsy (plasma) testing, Roche recommends the cobas® cfDNA Sample Preparation Kit
Amplification and Detection
Following sample preparation, Roche recommends the cobas z 480 analyzer for automated amplification and detection.
The cobas® EGFR Mutation Test v2 is a real-time PCR test for the qualitative detection of defined mutations of the epidermal growth factor receptor (EGFR) gene in non-small cell lung cancer (NSCLC) patients. Defined EGFR mutations are detected using DNA isolated from formalin-fixed paraffin-embedded tumor tissue (FFPET) or circulating-free tumor DNA from plasma derived from EDTA anti-coagulated peripheral whole blood.
The test is indicated as a companion diagnostic to aid in selecting NSCLC patients for treatment with the targeted therapies listed in Table 1 below in accordance with the approved therapeutic product labeling:
|TARCEVA® (erlotinib)||Exon 19 deletions and L858R||Exon 19 deletions and L858R|
*Note: The efficacy of TAGRISSO™ (osimertinib) has not been established in the EGFR T790M plasma-positive, tissue-negative or unknown population and clinical data for T790M plasma-positive patients are limited; therefore, testing using plasma specimens is most appropriate for consideration in patients from whom a tumor biopsy cannot be obtained.
Patients with positive cobas® EGFR Mutation Test v2 test results using plasma specimens for the presence of the EGFR mutations listed above are eligible for treatment with the corresponding drug as indicated in Table 1. Patients who are negative for these mutations by this test should be reflexed to routine biopsy and testing for EGFR mutations with the FFPET sample type.
Drug safety and efficacy have not been established for the following EGFR mutations, also detected by the cobas® EGFR Mutation Test v2:
|TARCEVA® (erlotinib)||G719X, exon 20 insertions, T790M, S768I and L861Q||G719X, exon 20 insertions, T790M, S768I and L861Q|
|TAGRISSO™ (osimertinib)||G719X, exon 19 deletions, L858R, exon 20 insertions, S768I, and L861Q||G719X, exon 19 deletions, L858R, exon 20 insertions, S768I, and L861Q|
For manual sample preparation, FFPET specimens are processed using the cobas® DNA Sample Preparation Kit and plasma specimens are processed using the cobas® cfDNA Sample Preparation Kit. The cobas z 480 analyzer is used for automated amplification and detection.
The cobas® EGFR Mutation Test v2 for use with plasma includes a reporting tool for the semi-quantitative measurement of mutations in exons 18, 19, 20, and 21 of the EGFR gene. This measurement, reported as a semi-quantitative index (SQI), correlates to the amount of target mutant cfDNA and can be used to determine changes in target mutant cfDNA load over time for a given patient.
- Instrument cobas® 4800 System
cobas® KRAS Mutation Test
The cobas® KRAS Mutation Test is a real-time PCR test for the qualitative identification of mutations in codons 12, 13 and 61 of the KRAS gene in DNA derived from formalin-fixed paraffin-embedded (FFPE) human colorectal cancer (CRC) tissues. The test is intended to aid in the identification of patients with advanced CRC who are unlikely to benefit from therapy with anti-epidermal growth factor receptor (EGFR) monoclonal antibodies. Specimens are processed using the cobas® DNA Sample Preparation kit for manual sample preparation and the cobas z 480 analyzer for automated amplification and detection.
Explanation of the Test:
The cobas® KRAS Mutation Test is a PCR-based assay designed to identify the presence of somatic mutations involving codons 12, 13 and 61 of the proto-oncogene KRAS, and thus identify patients with advanced CRC who are unlikely to benefit from therapy with anti-EGFR monoclonal antibodies.
- cobas® KRAS Mutation Test #05852170190
- cobas® DNA Sample Preparation Kit #05985536190
cobas® 4800 BRAF V600 Mutation Test
The cobas® BRAF V600 Mutation Test is an in vitro diagnostic device intended for the qualitative detection of BRAF V600E mutation in DNA extracted from formalin-fixed, paraffin-embedded human melanoma tissue. The cobas® BRAF V600 Mutation Test is a real-time PCR test on the cobas® 4800 system, and is intended to be used to identify patients with melanoma whose tumours harbor the V600E mutation of BRAF.
Explanation of the Test:
The cobas® 4800 BRAF V600 Mutation Test is a real-time PCR assay designed to detect the presence of the V600E (T1799A) mutation.
- cobas® 4800 BRAF V600 Mutation Test #05985595190
- cobas® DNA Sample Preparation Kit #05985536190
cobas® Factor II and Factor V Test
The cobas® Factor II and Factor V Test is an in vitro diagnostic device that uses real-time Polymerase Chain Reaction (PCR) for the detection and genotyping of the human Factor II (Prothrombin) G20210A mutation and the human Factor V Leiden G1691A mutation, from genomic DNA obtained from K2EDTA whole blood specimens, as an aid in diagnosis of patients with suspected thrombophilia. The cobas® Factor II and Factor V Test and the cobas z 480 analyser are used together for automated amplification and detection.
Factor II G20210A is a mutation of guanine (G) to adenine (A) at position 20210 of the Factor II gene which encodes the prothrombin (factor II) protein, one of the clotting factors in blood.
Normally, the prothrombin protein is produced to help the blood clot, and is produced in greater amounts after a blood vessel is damaged. This mutation in the factor II gene results in overproduction of the prothrombin protein. The increased prothrombin protein level leads to a hypercoagulable state, i.e., an increased tendency to form blood clots.
This G20210A mutation in the factor II gene is the second most common inherited hypercoagulability (prone to clotting) disorder among ethnic Europeans. The mutation was identified in Leiden in 1996.
Factor V Leiden (Factor V G1691A) is a mutation of guanine (G) to adenine (A) at position 1691 in the Factor V gene which encodes the factor V protein, one of the clotting factors in blood.
This mutation results in an arginine to glutamine substitution in the Factor V protein. The conformation of the mutated protein interferes with binding by another protein that inhibits the pro-clotting activity of factor V, leading to a hypercoagulable state, i.e., an increased tendency to form abnormal and potentially harmful blood clots.
Factor V Leiden is the most common inherited hypercoagulability (prone to clotting) disorder among ethnic Europeans. It is named after the Dutch city Leiden, where it was first identified in 1994.
The prevalence of Factor II Prothrombin mutation in European Caucasians was found to be 3-15% in patients with clotting disorders and 1-8% in healthy controls.1 That was also true in Caucasians living outside Europe like in the USA, Australia, Brazil and Israel. The prevalence of Prothrombin G20210A mutation is higher in the Southern European countries than in the Northern countries.
Factor V Leiden is the most common genetic form of inherited thrombophilia, accounting for 30–50% of cases.1 The prevalence varies by population. Heterozygosity for Factor V Leiden occurs in 3–8% of the general US and European populations. Homozygosity occurs in < 0.1%.2
Catalogue number: 07948352190
Pack size: 96 tests
Roche Oncology Life Science Research (LSR) Kits
The Roche Oncology Life Science Research (LSR) kits put our research to work in your lab. These kits deliver more of what you need to make your next discovery – starting with more information. The tests come with access to a free, real-time data analysis portal for automated, objective interpretation of results, while still giving you the raw data that can help in developing important insights. All this, plus the unparalleled Roche support you can count on.
It’s more than a new LSR portfolio; it’s the answer you’ve been looking for: https://lifescience.roche.com/en_ca/brands/oncology-research-kits.html