Testing routes
89 combinationsWhat to test panelDetail sheet
Curated from pathology practice in
src/lib/testing.ts, keyed by biomarker, alteration type and, where practice differs, tumour. Below: every combination that occurs in the data and the route it gets.ihc Immunohistochemistryeither IHC or molecularmolecular Molecularother Other tests| Biomarker | Alteration | Tumour | Section | How | Rows |
|---|---|---|---|---|---|
| AFP | overexpression | HCC | Other tests | Serum AFP | 1 |
| AKT | mutation | Breast | Molecular | DNA sequencing (PIK3CA, AKT1, PTEN) | 1 |
| ALK | wild-type-required | NSCLC | IHC or molecular | IHC, FISH or RNA-NGS; any one validated method | 11 |
| ALK | fusion | NSCLC | IHC or molecular | IHC, FISH or RNA-NGS; any one validated method | 12 |
| ALK | fusion | Other musculoskeletal tumours | IHC or molecular | IHC or FISH | 1 |
| ALK | fusion | T-cell lymphoma | Immunohistochemistry | IHC (ALK protein) | 1 |
| BCR::ABL1 | fusion | ALL | Molecular | RT-PCR, FISH or karyotype | 8 |
| BCR::ABL1 | mutation | ALL | Molecular | ABL1 kinase domain mutation analysis | 1 |
| BCR::ABL1 | fusion | CML | Molecular | RT-PCR, FISH or karyotype | 21 |
| BCR::ABL1 | mutation | CML | Molecular | ABL1 kinase domain mutation analysis | 3 |
| BRAF | mutation | CRC | Molecular | DNA sequencing (NGS or PCR) | 4 |
| BRAF | mutation | Glioma | Molecular | DNA sequencing (NGS or PCR) | 5 |
| BRAF | fusion | Glioma | Molecular | RNA-NGS or FISH | 1 |
| BRAF | mutation | Melanoma | Molecular | DNA sequencing (NGS or PCR) | 10 |
| BRAF | mutation | NSCLC | Molecular | DNA sequencing (NGS or PCR) | 4 |
| BRAF | mutation | Thyroid | Molecular | DNA sequencing (NGS or PCR) | 2 |
| BRCA | mutation | Breast | Molecular | Germline testing (blood) | 4 |
| BRCA | mutation | Ovarian | Molecular | Tumour or germline sequencing | 1 |
| BRCA | mutation | Pancreatic | Molecular | Germline testing (blood) | 1 |
| BRCA | mutation | Prostate | Molecular | Tumour or germline sequencing | 3 |
| CD19 | overexpression | ALL | Other tests | Flow cytometry | 6 |
| CD20 | overexpression | B-NHL | Immunohistochemistry | IHC (or flow cytometry) | 2 |
| CD20 | overexpression | LBCL/DLBCL | Immunohistochemistry | IHC (or flow cytometry) | 2 |
| CD22 | overexpression | ALL | Other tests | Flow cytometry | 2 |
| CD30 | overexpression | Hodgkin | Immunohistochemistry | IHC (or flow cytometry) | 4 |
| CD30 | overexpression | T-cell lymphoma | Immunohistochemistry | IHC (or flow cytometry) | 1 |
| CD33 | overexpression | AML | Other tests | Flow cytometry | 1 |
| CLDN18.2 | overexpression | Gastric/GEJ | Immunohistochemistry | IHC; cut-off in SmPC 4.2: ≥ 75% of tumour cells with moderate to strong membrane staining | 1 |
| del(5q) | loss | MDS | Molecular | Cytogenetics | 1 |
| del(5q) | wild-type-required | MDS | Molecular | Cytogenetics | 1 |
| EBV | overexpression | PTLD | Molecular | EBER in situ hybridisation | 1 |
| EGFR | wild-type-required | NSCLC | Molecular | DNA sequencing (NGS or PCR) | 12 |
| EGFR | mutation | NSCLC | Molecular | DNA sequencing (NGS or PCR) | 19 |
| EpCAM | overexpression | Tumour-agnostic | Immunohistochemistry | IHC or cytology | 1 |
| ESR1 | mutation | Breast | Molecular | DNA sequencing, tissue or plasma (ctDNA) | 3 |
| FGFR | fusion | BTC | Molecular | RNA-NGS or FISH | 2 |
| FGFR | mutation | Urothelial | Molecular | DNA/RNA sequencing | 1 |
| FIP1L1::PDGFRA | fusion | MLN-TK | Molecular | FISH (CHIC2 deletion) or RT-PCR | 1 |
| FLT3 | mutation | AML | Molecular | PCR / fragment analysis (ITD and TKD) | 7 |
| FRα | overexpression | Ovarian | Immunohistochemistry | IHC; cut-off in SmPC 4.2 | 1 |
| HER2 | overexpression | Breast | Immunohistochemistry | IHC; ISH if IHC 2+ | 34 |
| HER2 | overexpression | Breast | Immunohistochemistry | IHC; ultralow = IHC 0 with membrane staining | 1 |
| HER2 | overexpression | BTC | Immunohistochemistry | IHC; 3+ required | 1 |
| HER2 | overexpression | Gastric/GEJ | Immunohistochemistry | IHC; ISH if IHC 2+ | 3 |
| HER2 | mutation | NSCLC | Molecular | DNA sequencing (NGS) | 1 |
| HER2 | wild-type-required | TNBC | Immunohistochemistry | IHC; ISH if IHC 2+ | 1 |
| HER2 | overexpression | Tumour-agnostic | Immunohistochemistry | IHC; 3+ required | 1 |
| HLA-A*02:01 | overexpression | Uveal melanoma | Other tests | HLA typing (blood) | 1 |
| HR | overexpression | Breast | Immunohistochemistry | IHC (ER, PR) | 15 |
| HR | wild-type-required | TNBC | Immunohistochemistry | IHC (ER, PR) | 2 |
| HRD | signature | Ovarian | Molecular | Genomic instability (HRD) assay | 1 |
| IDH | mutation | AML | Molecular | DNA sequencing (NGS or PCR) | 1 |
| IDH | mutation | BTC | Molecular | DNA sequencing (NGS or PCR) | 1 |
| IDH | mutation | Glioma | Molecular | DNA sequencing (NGS or PCR) | 4 |
| KIT | overexpression | GIST | Immunohistochemistry | IHC (CD117) | 2 |
| KRAS | mutation | NSCLC | Molecular | DNA sequencing (NGS or PCR) | 2 |
| MET | mutation | NSCLC | Molecular | RNA- or DNA-NGS | 2 |
| MMR/MSI | loss | BTC | IHC or molecular | MMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS | 1 |
| MMR/MSI | loss | CRC | IHC or molecular | MMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS | 6 |
| MMR/MSI | loss | Endometrial | IHC or molecular | MMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS | 3 |
| MMR/MSI | wild-type-required | Endometrial | IHC or molecular | MMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS | 2 |
| MMR/MSI | loss | Gastric/GEJ | IHC or molecular | MMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS | 1 |
| MMR/MSI | loss | Small intestine | IHC or molecular | MMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS | 1 |
| NTRK | fusion | Tumour-agnostic | IHC or molecular | Pan-TRK IHC to screen; confirm by RNA-NGS | 3 |
| PD-L1 | overexpression | Cervical | Immunohistochemistry | IHC; the scoring system depends on the drug | 1 |
| PD-L1 | overexpression | Gastric/GEJ | Immunohistochemistry | IHC; the scoring system depends on the drug | 4 |
| PD-L1 | overexpression | HNSCC | Immunohistochemistry | IHC; the scoring system depends on the drug | 5 |
| PD-L1 | overexpression | Melanoma | Immunohistochemistry | IHC; the scoring system depends on the drug | 1 |
| PD-L1 | overexpression | NSCLC | Immunohistochemistry | IHC; the scoring system depends on the drug | 12 |
| PD-L1 | overexpression | Oesophageal | Immunohistochemistry | IHC; the scoring system depends on the drug | 7 |
| PD-L1 | overexpression | Ovarian | Immunohistochemistry | IHC; the scoring system depends on the drug | 1 |
| PD-L1 | overexpression | TNBC | Immunohistochemistry | IHC; the scoring system depends on the drug | 3 |
| PD-L1 | overexpression | Urothelial | Immunohistochemistry | IHC; the scoring system depends on the drug | 3 |
| PDGFR | mutation | GIST | Molecular | DNA sequencing (NGS or PCR) | 1 |
| PDGFR | fusion | MLN-TK | Molecular | Karyotype, FISH (PDGFRA, PDGFRB) or RNA-NGS | 2 |
| PIK3CA | mutation | Breast | Molecular | DNA sequencing (NGS or PCR) | 3 |
| PML::RARA | fusion | AML | Molecular | RT-PCR, FISH or karyotype | 4 |
| PSMA | overexpression | Prostate | Other tests | PSMA PET imaging | 1 |
| RAS | wild-type-required | CRC | Molecular | KRAS and NRAS sequencing (exons 2, 3, 4) | 6 |
| RET | wild-type-required | NSCLC | Molecular | RNA-NGS or FISH | 1 |
| RET | fusion | NSCLC | Molecular | RNA-NGS or FISH | 1 |
| RET | mutation | Thyroid | Molecular | DNA sequencing (germline and tumour) | 2 |
| RET | fusion | Thyroid | Molecular | RNA-NGS or FISH | 1 |
| RET | fusion | Tumour-agnostic | Molecular | RNA-NGS or FISH | 1 |
| ROS1 | fusion | NSCLC | IHC or molecular | IHC to screen; confirm by FISH or RNA-NGS | 3 |
| ROS1 | wild-type-required | NSCLC | IHC or molecular | IHC to screen; confirm by FISH or RNA-NGS | 2 |
| SSTR | overexpression | NET | Other tests | Somatostatin receptor imaging | 1 |
| TP53 | mutation | CLL | Molecular | TP53 sequencing and FISH for del(17p) | 2 |
| TP53 | wild-type-required | CLL | Molecular | TP53 sequencing and FISH for del(17p) | 2 |