CancerEssential® has been developed in cooperation with oncologists and pathologists in order to provide a fast, cost-efficient and high-quality analysis of the most important driver mutations within the most common tumor entities. The detection of these specific mutations in tumor tissue has a clear treatment consequence with respect to approved and targeted treatment.
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What We Offer with This Service
Our Promise to You
Your Benefits
- Multigene panel testing
- Analysis of single nucleotide variants (SNVs), selected fusion genes, and microsatellite instability (MSI) status
- High average sequencing coverage: 1,000x
- Sensitivity: > 99.8 %; Specificity: > 99.9 %
We will report all relevant findings in a medical report. This includes a list of all identified clinical relevant variants. These variants are clearly annotated with gene name, functional category of the mutation, transcript-ID, allele frequency, and effect on protein function. If requested, we also report the microsatellite instability status. Each single medical report is prepared and discussed by an interdisciplinary team of scientists and physicians to guarantee highest quality.
Method
The enrichment of the coding regions and the adjacent intronic regions is performed using a in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house. High throughput sequencing is performed on Illumina platforms. Bioinformatic processing of the data is achieved using an in-house computer cluster.
Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.
Sample Report
General Information
Our Standard Sample Requirements
Sample requirements for all analyses (minimum 20 % tumor content):
- DNA (> 200 ng) or
- FFPE tumor block (recommended sample type) or
- FFPE tissue slides (minimum 10 slides).
- If possible: H&E-stained slides with tumor area distinctly labeled. Please report the tumor content (of the labeled tumor area).
MSI only: Normal tissue in addition to tumor tissue:
- 1-2 ml EDTA blood (recommended sample type) or
- 1-2 µg DNA or
- FFPE block with normal tissue of the patient.
- If possible: H&E-stained slides with tumor and (if a blood sample is not available) normal tissue area distinctly labeled. Please report the tumor content (of the labeled tumor area).
Here you can find more information on how to ship your sample safely.
Turnaround Time
- Turnaround Time: 2-3 Weeks
Costs
The prices for our human genetic diagnostics depend on the size of the selected Diagnostic Panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.
Gen-Sets – CancerEssential®
Melanoma (PAT01, 7 Genes)
BRAF, CDKN2A, GNA11, GNAQ, KIT, NRAS, TP53
Colorectal Cancer (PAT02, 16 Genes)
AKT1, BRAF, CTNNB1, EGFR, ERBB2, FBXW7, KRAS, MLH1, MSH2, MSH6, NRAS, PIK3CA, PMS2, PTEN, SMAD4, TP53
Lung Cancer (PAT03, 19 Genes and 3 Translocations)
AKT1, ALK, BRAF, EGFR, ERBB2, FBXW7, FGFR1, FGFR2, FGFR3, KRAS, MAP2K1, MET, NOTCH1, NRAS, PIK3CA, PTEN, RET, ROS1, TP53, ALK translocation, RET translocation, ROS1 translocation
Gastrointestinal Stromal Tumors (PAT04, 4 Genes)
BRAF, KIT, PDGFRA, TP53
Glioma (PAT05, 10 Genes)
BRAF, EGFR, H3-3A, H3C2, IDH1, IDH2, PIK3CA, PTEN, TERT, TP53
Breast- And Ovarian Cancer (PAT06, 15 Genes)
AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, ERBB2, ESR1, PALB2, PIK3CA, PTEN, RAD51C, RAD51D, TP53
Thyroid Cancer (PAT07, 7 Genes)
BRAF, HRAS, KRAS, NRAS, PIK3CA, RET, TP53
Cholangiocellular Carcinoma (PAT09, 5 Genes)
IDH1, IDH2, KRAS, PIK3CA, TP53
Pancreatic Cancer (PAT10, 8 Genes)
BRCA1, BRCA2, CDKN2A, CHEK2, ERBB4, KRAS, SMAD4, TP53
BRCA1 and BRCA2 (PAT11, 2 Genes)
Options:
- BRCA1 and BRCA2 analysis only in tumor tissue (BRC01)
- BRCA1 and BRCA2 analysis only in normal tissue (incl. Del/Dup) (BRC02)
- BRCA1 and BRCA2 analysis in tumor and normal tissue (BRC03) (incl. Del/Dup in germline)
Prostate Cancer (PAT12, 20 Genes)
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCL, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51B, RAD51C, RAD51D, RAD54L, SPOP, TP53
Gastric Cancer (PAT13, 18 Genes)
AKT1, ATM, BRAF, BRCA1, BRCA2, CHEK2, CTNNB1, ERBB2, KRAS, MLH1, MSH2, MSH6, NRAS, PIK3CA, PMS2, PTEN, SMAD4, TP53
Structural Variants (9 Genes)
Selected therapy relevant fusion are evaluated additionally without further costs.
NTRK1, FGFR1, FGFR2, FGFR3, BRAF, ALK, RET, MET, ROS1
MMR-Panel (PAT14, 4 Genes)
MLH1, MSH2, MSH6, PMS2
Analysis for Microsatellite Instability (MSI) Via PCR (MSI-Analysis)
(Marker: BAT25, BAT26, NR21, NR22, NR27)
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Diagnostic Support
We will assist you in selecting the diagnostic strategy – for each patient.
