Tumour Profiling & BRCA1/2 Testing

Understand your tumour.
Explore your treatment options.

Molecular profiling investigates genetic changes in a tumour. The findings can help your oncologist assess targeted treatment options, changes associated with treatment resistance and eligibility for clinical trials.

Laboratory sample tubes prepared for molecular analysis
NGSDNA + RNA

Personalised medicine

The same diagnosis.
Different tumour biology.

Tumours with the same histological diagnosis can have different molecular and genetic features. A molecular profile helps your oncologist identify biomarkers that may matter for treatment selection and assessment of resistance.

The portfolio includes clinically relevant mutations, gene fusions and selected changes associated with treatment resistance. Where clinically indicated, broader profiling can add information about tumour biology and possible treatment options.

DNA

Mutations

RNA

Gene fusions

Which genetic changes can testing identify?

The same cancer type can have different molecular features.

01

Lung

EGFRALKROS1RET

Look for changes that can help an oncologist assess targeted treatment options. DNA and RNA analysis may be combined to examine mutations and gene fusions.

02

Breast

PIK3CAESR1BRCA1/2

Investigate changes relevant to treatment selection or resistance to hormone therapy. Tumour BRCA testing and inherited BRCA testing answer different questions.

03

Colorectal

KRASNRASBRAF

Assess molecular features relevant to treatment selection. The requested analysis may need to be combined with separate MMR/MSI assessment.

04

Melanoma

BRAFNRASKIT

Investigate genetic changes that may be relevant to targeted treatment, in the context of the melanoma type and previous care.

05

Other cancers

NGSBRCACGP

The portfolio also covers clinical questions in thyroid, gastric, pancreatic, prostate, bladder, kidney, endometrial and cervical cancers, gliomas, and tumours of unknown primary. Contact us to discuss the appropriate scope.

The genes, genetic changes and sample type are confirmed for the selected test before analysis.

Choose the right test with your treating doctor.

01

Targeted NGS

DNA + RNA

Next-generation sequencing investigates multiple genes relevant to treatment together. Depending on the panel, DNA analysis identifies mutations and RNA analysis investigates gene fusions.

02

Comprehensive genomic profiling

CGP

A broad assessment of tumour genomic changes to support treatment planning. It examines a wider range of genes and alteration types. Depending on the validated test, it may also assess tumour mutational burden (TMB), microsatellite instability (MSI) or homologous recombination deficiency (HRD).

03

BRCA1/2 in tumour tissue

BRCA1 / BRCA2

Identifies changes in BRCA1 and BRCA2 in tumour tissue to help assess treatment options. Depending on the finding, genetic counselling and a separate germline test may be needed to establish whether a change is inherited.

04

Inherited BRCA1/BRCA2 changes

Germline testing

A blood test for inherited BRCA1/2 variants. A pathogenic or likely pathogenic finding may inform treatment, cancer-risk assessment and further testing for relatives. Discuss whether testing is appropriate and what the results mean with your clinician and a genetic counsellor.

Testing may not identify a change relevant to treatment selection. Your oncologist interprets the result alongside your diagnosis, disease course and previous treatment.

Talk to Epicheck

Start with
your question.

Tell us the test you need or the clinical question you want to address. We will help clarify the analysis, specimen, cost and expected reporting time.

Contact the team