Clinical Indication ID & Name
Ewing-Like Soft-Tissue Sarcoma
Test Group
Sarcomas
Specialties
Test code
M57.1
Test name
Multi-target NGS panel - structural variant (BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3)
Target genes
BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Round cell sarcomas negative for EWSR1 rearrangements / Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected
Test code
M57.2
Test name
BCOR-CCNB3 RT-PCR
Target genes
BCOR-CCNB3
Test scope
Structural variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Round cell sarcomas negative for EWSR1 rearrangements
Test code
M57.3
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
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