Clinical Indication ID & Name
Epithelioid Soft Tissue Tumour Differential
Test Group
Sarcomas
Specialties
Test code
M202.1
Test name
EWSR1 rearrangement FISH or RT-PCR
Target genes
EWSR1
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M202.2
Test name
FUS rearrangement FISH or RT-PCR
Target genes
FUS
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M202.3
Test name
SS18 rearrangement FISH or RT-PCR
Target genes
SS18
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M202.4
Test name
TFE3 rearrangement FISH/RT-PCR
Target genes
TFE3
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M202.5
Test name
WWTR1-CAMTA1 RT-PCR
Target genes
WWTR1-CAMTA1
Test scope
Structural variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M202.6
Test name
WGS Germline and Tumour
Target genes
All including burden / signature
Test scope
All variant types
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M202.7
Test name
Multi-target NGS panel - structural variant (EWSR1, FUS, SS18, TFE3, WWTR1-CAMTA1, NTRK1, NTRK2, NTRK3)
Target genes
EWSR1, FUS, SS18, TFE3, WWTR1-CAMTA1, NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management / Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected
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
n/a
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form