Highly sensitive detection of actionable variants from liquid biopsy with low tumor content

Liquid biopsy analysis detects cell-free DNA (cfDNA) released into the bloodstream by necrotic and apoptotic cells and thus offers an optimal alternative when tumor tissue is unavailable. However, only a fraction of circulating DNA originates from the tumor itself. Therefore, highly sensitive methods are required to detect these minimal ctDNA concentrations.

We at CeGaT established our CancerDetect® panel using duplex UMI-based technology, which detects sequence variants in actionable, most prevalent hotspots. Moreover, due to non-invasive and repeatable sampling, CancerDetect® represents a great approach to monitoring. By very sensitive detection of tumor-specific biomarkers, the analysis of ctDNA can be used as a surrogate marker for treatment response during medical follow-up.

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Ideally Suited for Monitoring and Follow-up

Thorough Analysis

Detection of driver mutations in 36 genes (NAF ≥ 0.25 %)

High Coverage

High coverage: 50,000–100,000x raw coverage

Easy Sampling

Non-invasive and repeatable sampling

Comprehensive Medical Report

Prepared by our interdisciplinary team of experts

Our Promise to You

Fast Turnaround Time

2-3 weeks after sample receipt


Highest confidentiality and quality standards


Reliable support throughout all steps


Clearly prepared medical report

Service Details

  • Liquid biopsy enables the detection of variants with potential therapeutic relevance in patients where the tumor is inaccessible, allowing to gain information about the tumor and to address treatment – learn more
  • Highly sensitive and accurate detection of actionable, most prevalent driver mutations in 36 genes with very low allele frequencies by using duplex UMI-based technology (NAF ≥ 0.25 %)
  • High coverage: 50,000–100,000x raw coverage
  • Simple, non-invasive, and repeatable sampling provides best conditions for longitudinal follow-up testing and disease monitoring
  • By very sensitive detection of tumor-specific biomarkers, the analysis of ctDNA can be used to track tumor dynamics in real time and intervene or adjust treatment if necessary (e. g., at acquired drug resistance)
  • A list of all eligible drugs, with EMA and/or FDA approval, for which corresponding biomarkers could be detected in the tumor – learn more

We will report all relevant findings in a medical report. This includes a list of all identified clinically relevant variants. These variants are clearly annotated with gene name, functional category of the mutation, transcript-ID, allele frequency, and effect on protein function.

Each single medical report is prepared and discussed by an interdisciplinary team of scientists and physicians to guarantee highest quality.

Sample Report

Our Standard Sample Requirements

Liquid Biopsy

  • 3x 10 ml cfDNA tubes for liquid biopsy

Notes on Sample Shipment

Here you can find more information on how to ship your sample safely.

Diagnostic Process

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Counseling & Test Selection

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Sampling & Shipment

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Sample Analysis

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Medical Report & Counseling

This Is What Makes Our CancerDetect® Service Special

Variants with Potential Therapeutic Relevance

Guidance on potentially effective drugs

For each gene, the somatic change is depicted in detail, and the resulting therapeutic options are stated, including the EMA/FDA approval (A). These options are the basis for discussion in a molecular tumor board (MTB).

At the end of the medical report, in the appendix/supplement, we provide an extensive list of possible therapeutic strategies for each identified somatic changes (B). This list includes drug classes and names as well as their approval (FDA/EMA) and limiting conditions.

Sample Report: Exemplary for the BRAF variant detected and the resulting therapeutic options in a patient with melanoma. Top panel (A): An excerpt from Table 1 of the findings, listing variants with therapeutic relevance. Lower part (B): An excerpt of the drug listing. In addition to the drugs shown, other drugs are also described.

CancerDetect® Monitoring Applications

Application “Relapse detection”:

After surgery/treatment, the patient was considered tumor free. Regular liquid biopsy testing revealed tumor progression showing that an increase in a tumor-specific variant accompanied the recurrence of the tumor. This biomarker’s highly sensitive detection may detect the tumor’s relapse earlier than conventional imaging techniques.

A = time of clinically detectable recurrence or relapse

B = time of clinically detectable recurrence or relapse and acquired resistance

Application “Monitoring during treatment”:

After treatment, the patient underwent strong regression showing stable disease. Longitudinal monitoring provides an up-to-date molecular profile of the tumor and detects emerging treatment resistance in time. Here, two additional subclones occur besides the primary tumor mutation, forcing the treatment to be adjusted appropriately.

CancerDetect® Sample Case

Patient and indication:
  • 42 years old, female, metastatic non-small cell lung cancer (NSCLC) with an EGFR L858R mutation in the primarius
  • Relapse after initial response to afatinib treatment
  • Recurrent tumor inoperable, no tumor biopsy possible
Primary finding:

The result of an analysis of cell-free DNA using a standard lung cancer panel remained negative.

CancerDetect® finding:

Our CancerDetect® analysis revealed a 2 % tumor content in the liquid biopsy and detected the known EGFR L858R mutation, as well as an additional EGFR T790M resistance mutation. The EGFR T790M mutation represents one of the most common resistance mechanisms to tyrosine kinase inhibitors (TKIs) and typically occurs in NSCLC patients after first-line TKI treatment. In this patient, treatment was adjusted with the third-generation EGFR inhibitor osimertinib.

Gene Directory

All relevant variants in a named exon are analyzed. Exon numbers refer to coding exons (CDS) of the respective gene. The diagnostic is not limited to the listed example hotspot mutations. Exons not named and all variants within are not part of the analysis.



Enriched region (incl. example hotspot (HS)-variants)

AKT1 NM_005163 Exon 2 (HS E17)
ALK NM_004304 Exons 21-25 (incl. HS F1174)
ARAF NM_001654 Exon 6 (HS S214)
BRAF NM_004333 Exons 11 and 15 (incl. HS V600)
CTNNB1 NM_001904 Exon 2 (incl. HS S37, S45)
EGFR NM_005228 Exons 18-21 (incl. HS E746_A750del, T790, L858)
ERBB2 NM_004448 Exon 8, 19-21 (incl. HS V842)
ERBB3 NM_001982 Exons 3, 6-9, 23 (incl. HS V104, E928)
ERBB4 NM_005235 Exon 12 (incl. HS E452)
ESR1 NM_000125 Exons 4-8 (incl. HS K303, Y537, D538)
FGFR2 NM_000141 Exons 6, 8, 11 (incl. HS S252, N549)
FGFR3 NM_000142 Exon 12 (HS V555)
GNA11 NM_002067 Exon 5 (HS Q209)
GNAQ NM_002072 Exon 5 (HS Q209)
GNAS NM_000516 Exon 8 (HS 201) and Exon 9 (HS Q227)
H3-3A NM_002107 Exon 1 (HS K27 and G34)
H3-3B NM_005324 Exon 1 (HS K37)
HRAS NM_005343 Exons 1-3 (incl. HS G12, Q61)
IDH1 NM_005896 Exon 2 (HS R132)



Enriched region (incl. example hotspot (HS)-variants)

IDH2 NM_002168 Exon 4 (HS R140, R172)
JAK2 NM_004972 Exon 12 (HS V617)
KIT NM_000222 Exons 9, 11, 13, 14, 17, 18 (incl. HS W557_K558del, D816)
KRAS NM_004985 Exons 1-3 (inkl. HS G12, Q61)
MAP2K1 NM_002755 Exon 3 (HS P124)
MET NM_001127500 Exon 18 (incl. HS Y1248, Y1253)
MYCN NM_005378 Exon 1 (HS P44)
NRAS NM_002524 Exons 1-3 (inkl. HS G12, Q61)
PDGFRA NM_006206 Exons 4, 9, 11, 13, 17 (incl. HS D842)
PIK3CA NM_006218 Exons 4, 7, 9, 13, 20 (incl. HS E542, E545, H1047)
PTEN NM_000314 Exons 5-7 (incl. R130, R233)
RAC1 NM_018890 Exon 2 (HS P29)
RAF1 NM_002880 Exon 6 (incl. HS S257, S259)
RET NM_020975 Exon 10, 11, 13-16 (incl. HS C634)
STAT5B NM_012448 Exon 15 (HS N642)
TERT NM_198253 Promotor HS c.-124 (C228), c.-146 (C250)
TP53 NM_000546 Whole coding region

Further Information

Webinar: Genetic tumor diagnostics – the information basis for treatment decisions

CancerDetect® Liquid Biopsy in Genetic Tumor Diagnostics – CancerDetect®


Order Form CancerDetect®
Sample Report Cancer Detect EN
Tumor Diagnostics Brochure (EN)
CancerDetect® Flyer (EN)

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Diagnostic Support

We will assist you in selecting the diagnostic strategy – for each patient.