Is there a target?
Comprehensive genomic profiling — from focused driver analysis to the broad panel.
More targeted agents are reaching the market than can be queried one by one. Testing one marker after another consumes material and time. Both are scarce, especially with small biopsies and advanced disease.
A comprehensive panel settles this in a single run: point mutations, insertions and deletions, copy-number changes and fusions, from DNA and RNA. Along with the genomic signatures that now decide treatment in their own right — homologous recombination deficiency, tumour mutational burden, microsatellite instability.
Not every question justifies the large panel. When a particular agent is under discussion, the focused analysis is faster and spares the material. Which tier is the right one depends on the clinical situation — and on how much tissue is available.
A point of reference, not a definitive list. What makes sense in the individual case depends on stage, prior therapy and guideline.
| Entity | Typical target structures |
|---|---|
| Lung (NSCLC) | EGFR, ALK, ROS1, BRAF, KRAS (incl. G12C), RET, MET, NTRK |
| Colorectal | RAS (KRAS/NRAS), BRAF, MSI/MMR, HER2 |
| Gastric, gastroesophageal | HER2, MSI/MMR, PD-L1, CLDN18.2 |
| Melanoma | BRAF, NRAS, KIT |
| Urothelial | FGFR3 (hotspots and fusions) |
| Breast | ESR1, PIK3CA, HER2, BRCA / HRD |
| Ovarian | BRCA1/2, HRD |
| Prostate | BRCA1/2, HRR genes, MSI/MMR, PTEN loss |
| Endometrial | POLE, MMR/MSI, p53 |
| GIST | KIT, PDGFRA |
| Thyroid | BRAF, RET, NTRK |
| Pancreas, biliary tract | KRAS, BRCA, FGFR2 in cholangiocarcinoma |
| Glioma, glioblastoma | IDH1/2, MGMT promoter, 1p/19q |
| Tumour-agnostic | NTRK fusions, HER2 IHC 3+, RET fusions, MSI-high, TMB-high |
| CUP, rare entities | broad to comprehensive panel |
For each of these entities we choose the route according to the question: a focused single marker when it carries the decision, otherwise a panel of the appropriate tier. We do not perform whole-exome or whole-genome sequencing — our panels are curated, not boundless. At the common entities the tumour-agnostic markers are mostly already approved entity-specifically; in Europe, NTRK fusions and HER2 IHC 3+ carry a tumour-agnostic approval of their own, while for the others use outside the listed entities is usually a case-by-case matter. They are worth a look in any advanced tumour whose entity-specific options are exhausted.
The field moves quickly, and what is prognostic today becomes treatment-relevant tomorrow. PTEN loss in prostate cancer is one example: long a prognostic marker, now the target of an approved therapy. For questions like these we are set up on both levels — by immunohistochemistry on the tissue and molecularly on the DNA — and the combination is often more informative than either route alone. If you want to work up an emerging target that is not listed here, ask us; it can usually be settled on the material already at hand.
The focused analysis suffices when the question is clearly defined: a particular agent, a known driver, an approval that requires the finding.
The large panel is worthwhile when the question is open. In advanced disease, when the standard is exhausted. In rare entities. In CUP syndrome. Or when HRD, TMB or MSI are to feed into the decision.
The technology rarely fails. What matters above all is the quantity: the material must suffice, and what is too scant cannot be recovered afterwards. Talk to us before sending when bone or calcified tissue is involved — then we settle the decalcification beforehand.
Which tier for which case?
Best clarified in conversation. If the smaller panel is enough, we will tell you.