Clinical Indication ID & Name
Colorectal Carcinoma
Test Group
Solid Tumours (Adult)
Specialties
Test code
M1.1
Test name
Multi-target NGS panel - small variant (KRAS, NRAS, BRAF, MLH1, MSH2, MSH6, PMS2, POLD1, POLE)
Target genes
KRAS, NRAS, BRAF, MLH1, MSH2, MSH6, PMS2, POLD1, POLE
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Known colorectal carcinoma, eligible for anti-EGFR therapy and / or BRAF status required as per NICE Guidelines algorithm for molecular testing for Lynch syndrome and or no IHC result for Lynch testing. Please refer to Rare & Inherited disease directory R210 Lynch syndrome for full eligibility criteria.
Test code
M1.2
Test name
KRAS hotspot
Target genes
KRAS
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Known colorectal carcinoma, eligible for anti-EGFR therapy, in rare cases where this cannot be delivered by panel testing NB will be subject to close audit
Test code
M1.3
Test name
NRAS hotspot
Target genes
NRAS
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Known colorectal carcinoma, eligible for anti-EGFR therapy, in rare cases where this cannot be delivered by panel testing NB will be subject to close audit
Test code
M1.4
Test name
MSI Testing
Target genes
N/A
Test scope
Microsatellite instability analysis
Test method/ technology
Microsatellite instability
Optimal Family Structure
n/a
Eligibility Criteria
Known colorectal carcinoma, when MMR IHC not possible / not performed, as per NICE Guidelines algorithm for molecular testing for Lynch syndrome. Please refer to Rare & Inherited disease directory R210 Lynch syndrome for full eligibility criteria.
Test code
M1.5
Test name
MLH1 promoter hypermethylation
Target genes
MLH1
Test scope
Methylation analysis
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Known colorectal carcinoma, as per NICE Guidelines algorithm for molecular testing for Lynch syndrome. Please refer to Rare & Inherited disease directory R210 Lynch syndrome for full eligibility criteria.
Test code
M1.6
Test name
Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)
Target genes
NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected
Test code
M1.7
Test name
DPYD hotspot
Target genes
DPYD
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Patient planned to receive fluoropyrimidine treatment
Commissioning group
n/a
Overlapping idications
n/a
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form