Clinical Indication ID & Name
Round Cell Sarcoma of Soft Tissue Differential
Test Group
Sarcomas
Specialties
Test code
M197.1
Test name
Multi-target NGS panel - structural variant (BCOR, CIC, DDIT3, EWSR1, FOXO1, WT1, BCOR-CCNB3, HEY1-NCOA2, PAX3-FOXO1, PAX7-FOXO1, NTRK1, NTRK2, NTRK3)
Target genes
BCOR, CIC, DDIT3, EWSR1, FOXO1, WT1, BCOR-CCNB3, HEY1-NCOA2, PAX3-FOXO1, PAX7-FOXO1, 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
Test code
M197.2
Test name
DDIT3 rearrangement FISH or RT-PCR
Target genes
DDIT3
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
M197.3
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
M197.4
Test name
FOXO1 rearrangement FISH or RT-PCR
Target genes
FOXO1
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
M197.5
Test name
WT1 rearrangement FISH or RT-PCR
Target genes
WT1
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
M197.6
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
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M197.7
Test name
HEY1-NCOA2 RT-PCR
Target genes
HEY1-NCOA2
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
M197.8
Test name
PAX3-FOXO1 rearrangement FISH or RT-PCR
Target genes
PAX3-FOXO1
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
M197.9
Test name
PAX7-FOXO1 rearrangement FISH or RT-PCR
Target genes
PAX7-FOXO1
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
M197.10
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
Cancer WGS Clinician pack
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