Testing routes

89 combinations
What 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
BiomarkerAlterationTumourSectionHowRows
AFPoverexpressionHCCOther testsSerum AFP1
AKTmutationBreastMolecularDNA sequencing (PIK3CA, AKT1, PTEN)1
ALKwild-type-requiredNSCLCIHC or molecularIHC, FISH or RNA-NGS; any one validated method11
ALKfusionNSCLCIHC or molecularIHC, FISH or RNA-NGS; any one validated method12
ALKfusionOther musculoskeletal tumoursIHC or molecularIHC or FISH1
ALKfusionT-cell lymphomaImmunohistochemistryIHC (ALK protein)1
BCR::ABL1fusionALLMolecularRT-PCR, FISH or karyotype8
BCR::ABL1mutationALLMolecularABL1 kinase domain mutation analysis1
BCR::ABL1fusionCMLMolecularRT-PCR, FISH or karyotype21
BCR::ABL1mutationCMLMolecularABL1 kinase domain mutation analysis3
BRAFmutationCRCMolecularDNA sequencing (NGS or PCR)4
BRAFmutationGliomaMolecularDNA sequencing (NGS or PCR)5
BRAFfusionGliomaMolecularRNA-NGS or FISH1
BRAFmutationMelanomaMolecularDNA sequencing (NGS or PCR)10
BRAFmutationNSCLCMolecularDNA sequencing (NGS or PCR)4
BRAFmutationThyroidMolecularDNA sequencing (NGS or PCR)2
BRCAmutationBreastMolecularGermline testing (blood)4
BRCAmutationOvarianMolecularTumour or germline sequencing1
BRCAmutationPancreaticMolecularGermline testing (blood)1
BRCAmutationProstateMolecularTumour or germline sequencing3
CD19overexpressionALLOther testsFlow cytometry6
CD20overexpressionB-NHLImmunohistochemistryIHC (or flow cytometry)2
CD20overexpressionLBCL/DLBCLImmunohistochemistryIHC (or flow cytometry)2
CD22overexpressionALLOther testsFlow cytometry2
CD30overexpressionHodgkinImmunohistochemistryIHC (or flow cytometry)4
CD30overexpressionT-cell lymphomaImmunohistochemistryIHC (or flow cytometry)1
CD33overexpressionAMLOther testsFlow cytometry1
CLDN18.2overexpressionGastric/GEJImmunohistochemistryIHC; cut-off in SmPC 4.2: ≥ 75% of tumour cells with moderate to strong membrane staining1
del(5q)lossMDSMolecularCytogenetics1
del(5q)wild-type-requiredMDSMolecularCytogenetics1
EBVoverexpressionPTLDMolecularEBER in situ hybridisation1
EGFRwild-type-requiredNSCLCMolecularDNA sequencing (NGS or PCR)12
EGFRmutationNSCLCMolecularDNA sequencing (NGS or PCR)19
EpCAMoverexpressionTumour-agnosticImmunohistochemistryIHC or cytology1
ESR1mutationBreastMolecularDNA sequencing, tissue or plasma (ctDNA)3
FGFRfusionBTCMolecularRNA-NGS or FISH2
FGFRmutationUrothelialMolecularDNA/RNA sequencing1
FIP1L1::PDGFRAfusionMLN-TKMolecularFISH (CHIC2 deletion) or RT-PCR1
FLT3mutationAMLMolecularPCR / fragment analysis (ITD and TKD)7
FRαoverexpressionOvarianImmunohistochemistryIHC; cut-off in SmPC 4.21
HER2overexpressionBreastImmunohistochemistryIHC; ISH if IHC 2+34
HER2overexpressionBreastImmunohistochemistryIHC; ultralow = IHC 0 with membrane staining1
HER2overexpressionBTCImmunohistochemistryIHC; 3+ required1
HER2overexpressionGastric/GEJImmunohistochemistryIHC; ISH if IHC 2+3
HER2mutationNSCLCMolecularDNA sequencing (NGS)1
HER2wild-type-requiredTNBCImmunohistochemistryIHC; ISH if IHC 2+1
HER2overexpressionTumour-agnosticImmunohistochemistryIHC; 3+ required1
HLA-A*02:01overexpressionUveal melanomaOther testsHLA typing (blood)1
HRoverexpressionBreastImmunohistochemistryIHC (ER, PR)15
HRwild-type-requiredTNBCImmunohistochemistryIHC (ER, PR)2
HRDsignatureOvarianMolecularGenomic instability (HRD) assay1
IDHmutationAMLMolecularDNA sequencing (NGS or PCR)1
IDHmutationBTCMolecularDNA sequencing (NGS or PCR)1
IDHmutationGliomaMolecularDNA sequencing (NGS or PCR)4
KIToverexpressionGISTImmunohistochemistryIHC (CD117)2
KRASmutationNSCLCMolecularDNA sequencing (NGS or PCR)2
METmutationNSCLCMolecularRNA- or DNA-NGS2
MMR/MSIlossBTCIHC or molecularMMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS1
MMR/MSIlossCRCIHC or molecularMMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS6
MMR/MSIlossEndometrialIHC or molecularMMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS3
MMR/MSIwild-type-requiredEndometrialIHC or molecularMMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS2
MMR/MSIlossGastric/GEJIHC or molecularMMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS1
MMR/MSIlossSmall intestineIHC or molecularMMR IHC (MLH1, PMS2, MSH2, MSH6) or MSI by PCR/NGS1
NTRKfusionTumour-agnosticIHC or molecularPan-TRK IHC to screen; confirm by RNA-NGS3
PD-L1overexpressionCervicalImmunohistochemistryIHC; the scoring system depends on the drug1
PD-L1overexpressionGastric/GEJImmunohistochemistryIHC; the scoring system depends on the drug4
PD-L1overexpressionHNSCCImmunohistochemistryIHC; the scoring system depends on the drug5
PD-L1overexpressionMelanomaImmunohistochemistryIHC; the scoring system depends on the drug1
PD-L1overexpressionNSCLCImmunohistochemistryIHC; the scoring system depends on the drug12
PD-L1overexpressionOesophagealImmunohistochemistryIHC; the scoring system depends on the drug7
PD-L1overexpressionOvarianImmunohistochemistryIHC; the scoring system depends on the drug1
PD-L1overexpressionTNBCImmunohistochemistryIHC; the scoring system depends on the drug3
PD-L1overexpressionUrothelialImmunohistochemistryIHC; the scoring system depends on the drug3
PDGFRmutationGISTMolecularDNA sequencing (NGS or PCR)1
PDGFRfusionMLN-TKMolecularKaryotype, FISH (PDGFRA, PDGFRB) or RNA-NGS2
PIK3CAmutationBreastMolecularDNA sequencing (NGS or PCR)3
PML::RARAfusionAMLMolecularRT-PCR, FISH or karyotype4
PSMAoverexpressionProstateOther testsPSMA PET imaging1
RASwild-type-requiredCRCMolecularKRAS and NRAS sequencing (exons 2, 3, 4)6
RETwild-type-requiredNSCLCMolecularRNA-NGS or FISH1
RETfusionNSCLCMolecularRNA-NGS or FISH1
RETmutationThyroidMolecularDNA sequencing (germline and tumour)2
RETfusionThyroidMolecularRNA-NGS or FISH1
RETfusionTumour-agnosticMolecularRNA-NGS or FISH1
ROS1fusionNSCLCIHC or molecularIHC to screen; confirm by FISH or RNA-NGS3
ROS1wild-type-requiredNSCLCIHC or molecularIHC to screen; confirm by FISH or RNA-NGS2
SSTRoverexpressionNETOther testsSomatostatin receptor imaging1
TP53mutationCLLMolecularTP53 sequencing and FISH for del(17p)2
TP53wild-type-requiredCLLMolecularTP53 sequencing and FISH for del(17p)2