Oncology

Hereditary cancers account for only around 5% of all malignancies. If the underlying genetic alteration predisposing to a specific tumour syndrome is known, it can be detected directly from a blood sample, as the variant is present in all cells of the body.

Individuals carrying a predisposition variant are typically heterozygous and remain asymptomatic until the second, unaffected allele is inactivated by an additional mutation, referred to as a “second hit”. This phenomenon, known as loss of heterozygosity (LOH), can lead to uncontrolled cellular proliferation and the development of a malignant clone when tumour suppressor genes are affected. Conversely, spontaneous mutations may activate growth-promoting genes (proto-oncogenes), likewise resulting in uncontrolled growth.

In most cases, carriers of pathogenic germline variants have a significantly increased lifetime risk of developing cancer. Affected individuals should therefore be offered comprehensive surveillance programmes, consideration of preventive surgical measures where appropriate, and psycho-oncological support.

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  Testing from single-gene to comprehensive panels across major hereditary cancer indications. Target capture enrichment technology via NGS.
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  Testing from single-gene to comprehensive panels across major hereditary cancer indications. Proprietary target capture enrichment technology via NGS. Also available as a to perform it in you own laboratory.

Solid tumours account for more than 90% of all malignant diseases. The most important histological subgroups are carcinomas (epithelial neoplasms) and sarcomas (mesenchymal neoplasms), while mixed tumours containing both carcinoma and sarcoma components (carcinosarcomas) are rare. Diagnostic and therapeutic strategies are guided by tumour type and, increasingly, by the presence of specific genomic alterations that may serve as targets for precision therapies.

Numerous molecular alterations have been described for solid tumours, some of which are characteristic of specific tumour subgroups. These alterations may provide the basis for targeted therapies, such as tyrosine kinase inhibitors in EGFR-mutated non-small cell lung cancer (NSCLC) or HER2-targeted antibodies in HER2-overexpressing breast cancer, and may also be of prognostic significance.

For tumours where only limited tissue is available, such as small biopsy samples from NSCLC, sensitive parallel analysis of multiple genetic variants is recommended. This may include assessment of tumour mutational burden (TMB) and microsatellite instability (MSI) to support personalised treatment decisions based on the tumour’s specific molecular profile.

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  Hybrid capture-based NGS panel (OncoDEEP®) with HRD, MSI, and TMB assessment; additional methods may be applied when clinically indicated.
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  Target capture enrichment technology via NGS with MSI and TMB assessment; histology available upon request.

NeoThetis is a non-invasive liquid biopsy test designed to support precision oncology by analysing circulating tumour DNA (ctDNA) from a simple blood sample. It provides a comprehensive genomic profile of a patient’s tumour without the need for invasive tissue biopsy, making it particularly valuable when tumour tissue is unavailable, insufficient, or when repeated sampling is required during disease progression.

The test detects clinically actionable genetic alterations—including single nucleotide variants (SNVs), insertions and deletions (INDELs), copy number amplifications (CNAs), and rearrangements—that drive cancer development and influence response to targeted therapies. In addition, NeoThetis evaluates key immunotherapy biomarkers such as microsatellite instability (MSI) across all panels, while the Pan-Cancer Plus panel also assesses blood tumour mutational burden (bTMB), enabling identification of patients who may benefit from immune checkpoint inhibitors.

NeoThetis is available as a portfolio of panels tailored to different clinical needs. These include comprehensive pan-cancer panels for broad genomic profiling, as well as cancer-specific panels focused on clinically relevant genes for particular tumour types. This flexible panel design allows clinicians to select the most appropriate level of analysis depending on the clinical context, whether for initial therapy selection or treatment re-evaluation.

By combining genomic alteration detection with immunotherapy biomarkers, NeoThetis supports informed treatment decisions, including targeted therapies and immunotherapy options. It is particularly useful both at diagnosis and during disease progression, enabling monitoring of tumour evolution and identification of resistance mechanisms.

Using high-sensitivity next-generation sequencing (NGS), NeoThetis captures tumour heterogeneity across primary and metastatic sites, providing a more comprehensive view of the disease compared to single-site tissue biopsy. With fast turnaround times and clinically actionable insights linked to approved therapies and clinical trials, NeoThetis enables timely, evidence-based decisions to optimise patient outcomes.

OncoSentia™ MRD is a tumour-agnostic, plasma-informed minimal residual disease (MRD) liquid biopsy test intended to support longitudinal molecular monitoring in patients diagnosed with unresectable non-small cell lung cancer (NSCLC).

OncoSentia™ MRD leverages circulating tumour DNA (ctDNA) analysis and hybrid capture next-generation sequencing (NGS) combined with multi-modal MRD classification to detect molecular evidence of residual disease during and after consolidation treatment.

By combining personalised, patient sample-specific biomarker tracking with a tissue-free approach, OncoSentia™ MRD provides additional molecular insight into disease status and may help inform progression alongside established clinical and imaging assessment.

• Designed, developed and validated for unresectable stage III NSCLC
• Plasma-informed, personalised molecular residual disease monitoring without prior tumour tissue sampling
• Longitudinal molecular monitoring