Cost-effective analysis for the identification of actionable variants in solid tumor entities

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.

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 requirements for all analyses (minimum 20% tumor content):

• DNA (> 200 ng) or
• FFPE tumor block or
• 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 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).