Clinical Indication ID & Name
Cholangiocarcinoma
Test Group
Solid Tumours (Adult)
Specialties
Test code
M220.1
Test name
Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3, FGFR2)
Target genes
NTRK1, NTRK2, NTRK3,FGFR2
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. Patient’s clinical status means they are eligible for a protein kinase inhibitor therapy in the event an FGFR2 fusion is detected.
Test code
M220.3
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
Test code
M220.5
Test name
MSI Testing
Target genes
N/A
Test scope
Microsatellite instability analysis
Test method/ technology
Microsatellite instability analysis
Optimal Family Structure
n/a
Eligibility Criteria
Known cholangiocarcinoma carcinoma, when MMR IHC not possible / not performed, as per NICE Guidelines for molecular testing to inform therapy choice. Delivery via pathology in some regions.
Test code
M220.6
Test name
Multi-target NGS panel -small variant (IDH1)
Target genes
IDH1
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
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