Genomics and Oncology

Genomic and oncology

 

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.

Testing

  • cobas® EGFR v2 mutation test
  • cobas® KRAS mutation test 
  • cobas® BRAF V600 mutation kit
  • Factor II (Prothrombin)
  • Factor V Leiden kit

Website

https://molecular.roche.com/disease-area/oncology/

 

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

Sample Preparation

  • 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. 

Intended Use

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: 

Table 1
Drug FFPET Plasma
TARCEVA® (erlotinib) Exon 19 deletions and L858R Exon 19 deletions and L858R
TAGRISSO™ (osimertinib) T790M T790M*
*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: 

Table 2
Drug FFPET Plasma
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.

Instrument

  • Instrument cobas® 4800 System

Website

http://egfrmutationtestv2.roche.com/

 

cobas® KRAS Mutation Test

Intended Use:

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.

Ordering Information:

Catalogue number: 

  • cobas® KRAS Mutation Test #05852170190
  • cobas® DNA Sample Preparation Kit #05985536190

Pack Size: 

Kit for 24 reactions

 

cobas® 4800 BRAF V600 Mutation Test

Intended Use:

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.

Ordering Information:

Catalogue number: 

  • cobas® 4800 BRAF V600 Mutation Test #05985595190
  • cobas® DNA Sample Preparation Kit #05985536190

Pack Size:

Kit for 24 reactions 

 

Factor II (Prothrombin) G20210A Kit (CE-IVD and FDA-IVD) 

For in vitro Diagnostic Use 

Intended Use 

The Factor II (Prothrombin) G20210A Kit allows the detection and genotyping of a single point mutation (G to A at position 20210) of the human Factor II gene from DNA isolated from human whole peripheral blood. The test is performed on the LightCycler® Instrument utilizing polymerase chain reaction (PCR) for the amplification of Factor II DNA recovered from clinical samples and fluorigenic target-specific hybridization for the detection and genotyping of the amplified Factor II DNA. 

The Factor II (Prothrombin) G20210A test is an in vitro diagnostic test for the detection and genotyping of the Factor II (Prothrombin) G20210A mutation as an aid to diagnosis in the evaluation of patients with suspected thrombophilia. The test is intended to be used on the LightCycler® Instrument using SW 4.05 or 4.1. The specimen preparation must be performed according to the workflow procedure described in the package insert. 

Explanation of the Test 

Inherited thrombophilia predisposes an individual to thrombotic events such as venous thrombosis, the third-most-common cardiovascular disease. Activated protein C (APC) resistance is regarded as the most prevalent coagulation abnormality associated with venous thrombosis. Patients who have tested positive for APC resistance or the Factor V Leiden mutation should be considered for molecular genetic testing for the most common other thrombophilias with overlapping phenotype, for which testing is available at present (i.e., the Factor II [Prothrombin] G20210A variant). It is present in 1–2% of the general population and its involvement in venous thromboembolism is well established. 

Ordering Information 

Catalogue number: 03 610 195 001 

Pack size: Kit for 32 reactions for a maximum of 30 specimens 

 

FACTOR V LEIDEN KIT (CE-IVD and FDA-IVD) 

For in vitro Diagnostic Use 

Intended Use 

The Factor V Leiden Kit allows the detection and genotyping of a single point mutation (G to A at position 1691) of the human Factor V gene, referred to as Factor V Leiden mutation, from DNA isolated from human whole peripheral blood. The test is performed on the LightCycler® Instrument utilizing polymerase chain reaction (PCR) for the amplification of Factor V DNA recovered from clinical samples and fluorigenic target-specific hybridization for the detection and genotyping of the amplified Factor V DNA. 

The Factor V Leiden test is an in vitro diagnostic test for the detection and genotyping of the Factor V Leiden mutation as an aid to diagnosis in the evaluation of patients with suspected thrombophilia. The test is intended to be used on the LightCycler® Instrument using SW 4.05 or 4.1. The specimen preparation must be performed according to the workflow procedure described in the package insert. 

Explanation of the Test 

Inherited thrombophilia predisposes an individual to thrombotic events such as venous thrombosis, the third-most-common cardiovascular disease. Activated protein C (APC) resistance is regarded as the most prevalent coagulation abnormality associated with venous thrombosis. A point mutation at position 1691 of the Factor V gene, referred to as Factor V Leiden mutation, causes an arginine to glutamine substitution at position 506 in the Factor V protein and renders it partially resistant to inactivation by APC. Genetic analysis has demonstrated that this mutation, which has a relatively high prevalence in the general population (e.g., about 5% in Caucasians), accounts for 85% to 95% of APC resistance cases. 

Ordering Information 

Catalogue number: 03 610 179 001 

Pack size: Kit for 32 reactions for a maximum of 30 specimens 


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