genetic sequencing

As medical screening and genomic testing advances, we are gaining the ability to treat cancer on a personalised level; based on the DNA/RNA of the cancer, and how it and the patient are likely to interact with selected treatments. Through a genomic testing approach, you and your doctor can plan your treatment with personalised insight.

CG Genomics Oncology’s testing partner uses next-generation sequencing (NGS) technologies, amongst other techniques, to evaluate your and your cancer’s genomic profile. By identifying mutations unique to your cancer we can find targeted treatment options. This will allow you to achieve the most accurate diagnosis and will enable you to benefit from personalised medicine and treatments in addition to the standard protocols.

bowel cancer blood test

Studies have looked at the impact of genomic profiling in the treatment of cancer, with researchers finding an association between the timing of genomic testing and reduced mortality risk. Clinical trials of over 70,000 patients have shown that personalised therapy, based on genomic profiling of tumours, is effective in improving outcomes, with higher response rates, longer progression free and overall survival, and fewer deaths related to adverse events across cancers.

The relative upfront costs of genomic testing may appear daunting, however, studies show it can save significant costs by helping to find targeted treatment options, as well as the potential efficacy of treatment options. CG Genomics Oncology provides you with access to the most up-to-date and comprehensive analysis and reporting for a range of cancer types, as well as the expertise to assist with test selection.


  • Kehl, K.L., et al. (2020). “Assessment of Temporal Selection Bias in Genomic Testing in a Cohort of Patients With Cancer.” JAMA Network Open 3(6).
  • Jardim, D. L., et al. (2015). “Impact of a Biomarker-Based Strategy on Oncology Drug Development: A Meta-analysis of Clinical Trials Leading to FDA Approval.” J Natl Cancer Inst 107(11).
  • Schwaederle, M., et al. (2015). “Impact of Precision Medicine in Diverse Cancers: A Meta-Analysis of Phase II Clinical Trials.” J Clin Oncol 33(32): 3817-3825
  • Subbiah, V. and R. Kurzrock (2016). “Universal genomic testing needed to win the war against cancer: Genomics is the diagnosis.” JAMA Oncology 2(6): 719-720.
  • Pennell, N.A., et al. (2019). “Economic Impact of Next-Generation Sequencing Versus Single-Gene Testing to Detect Genomic Alterations in Metastatic Non–Small-Cell Lung Cancer Using a Decision Analytic Model.” JCO Precision Oncology.

AVAILABLE test types

CG Genomics Oncology can work with you to determine the most suitable test depending on the stage of diagnosis and treatment. We provide a range of tumour marker blood and solid tumour tests.

Solid Tumour

Test Description Use Information Pack
Oncomine Focus NGS assay that allows for the detection of DNA mutations across 52 genes. Identify genes which can be clinically targeted by on market oncology drugs or targeted drugs currently in clinical trial phases. Download brochure
Oncomine Plus NGS assay that allows for the detection of mutations in the DNA and fusions in the RNA of 500 genes. Identify genes which can be clinically targeted by on market oncology drugs or targeted drugs currently in clinical trial phases. Download brochure
Transcriptome Assesses the expression of 20,809 genes, which can provide complementary information to DNA sequencing. Potentially increase the number of targetable pathways in your cancer, highlighting additional targeted therapies you may be able to access. Download brochure
BRCA & BRCA Plus Identify inherited mutations in BRCA1 and BRCA2. BRCA Plus looks at 9 other genes commonly involved in breast and ovarian cancers. Around 5 – 10 % of breast cancers result from a mutation in the BRCA1 and BRCA2 genes. BRCA mutations increase the risk of developing female breast and ovarian cancer, and patients with BRCA mutations tend to develop breast cancers at a younger age. Download brochure
Inherited Cancer Panel Looks at 42 genes implicated in some of the most common inherited cancer syndromes Specifically looks at hereditary breast and ovarian cancer (BRCA1/BRCA2), Li-Fraumeni syndrome (TP53), Lynch Syndrome (MLH1/MSH2/MSH6/PMS2), Von Hippel Lindau syndrome (VHL) and Neurofibromatosis 2 (NF2). Download brochure
Kids Cancer Targeted Therapy Assay Developed by leading researchers and paediatric oncologists to comprehensively target the genetic drivers of childhood cancers. The genes covered are commonly implicated in a range of childhood cancers, including leukemias, brain tumours, sarcomas, and embryonal tumours, including neuroblastoma, retinoblastoma, Wilm’s tumour, and liver tumours. Download brochure
NTRK Testing Detection of NTRK fusions in the NTRK1, NTRK2, and NTRK3 genes, which can help patients determine their likely response if considering treatment with TRK inhibitors. NTRK gene alterations are found in more than 90% of rare adult and childhood cancer types such as infantile fibrosarcoma, mammary analogue secretory carcinoma, secretory breast carcinoma and cellular or mixed congenital mesoblastic nephroma. Download brochure
Sarcoma Panel Targeted sequencing assay that simultaneously detects and identifies fusions of 26 genes associated with soft tissue cancers. Due to their rarity and heterogeneity, sarcoma diagnosis can be challenging, and they are often misdiagnosed. Identifying the abnormalities specific to your Sarcoma is the key to an accurate diagnosis and developing a personalised treatment plan. Download brochure

Blood Based Tests

Test Description Use Information Pack
Cell-Free DNA (cf DNA) Tumour cells may release circulating cell-free tumour DNA (cfDNA), which may contain identical mutations to those present in the primary tumour. May give an indication of the size of a tumour or the amount of cancer cells in the body. Can help to monitor response to treatment and may alert to early signs of recurrence or resistance. Download brochure
Pharmacogenomics (Drug Response) Analysis of how genes affect a person’s response to drugs which may be used in the treatment of cancer. Allows patient-specific drug therapy selection and dosages based on their genetic makeup. Testing prior to beginning treatment may help determine the response to certain drug classes and help avoid drugs that may be ineffective or cause harmful side effects. It may also identify new treatment options or why current treatments aren’t working. Download brochure
Radiation Sensitivity Assay May help determine the presence of the TGFβ1 genetic variation associated with the risk of developing radiation-induced fibrosis. Knowing whether you have the TGFβ1 genetic variation associated with low or high risk of fibrosis may be helpful when deciding whether to give a tumour bed boost after whole-breast radiation, as a boost may increase the risk of fibrosis while modestly decreasing recurrence risk. Download brochure
Tamoxifen Sensitivity Assay Specifically designed for breast cancer patients, or women with an increased risk of breast cancer, and detects the CYP19A1 gene.  Given the critical role that CYP19A1 plays in the synthesis of estrogen, it is believed that genetic variants in the gene may be a useful marker in determining a patient’s likely response to hormone-based therapies such as Tamoxifen. Download brochure

Immunotherapy Response Tests

Test Description Use Information Pack
Tumor Mutational Load Analysis Tumour mutational load (TML), or tumour mutational burden, is a measure of the number of mutations within a tumour genome. Covers 409 cancer ‘driver’ genes. Indicator of sensitivity to immune checkpoint inhibitors and may indicate the likely response to immunotherapy. The use of immune checkpoint inhibitors in tumours with a higher TML has been shown to be associated with improved overall survival rates. TML has been shown to more accurately indicate response to PD-1 and PD-L1 blockade immunotherapy, than PD-1 or PD-L1 expression as measured by immunohistochemistry (IHC). Download brochure
TCR-Beta Assay Utilises NGS technologies to look at all the different T-cell receptors (TCRs) in the patient’s representative sample, assessing diversity and clonal expansion and allows for identification of allele-specific polymorphisms. Assess if the immune system is recognising the tumour and generating more cells directed at fighting the tumour. Download brochure

To discuss these tests in more detail with one of our expert staff, please fill in the contact form or email us directly at

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