Clinical Indication ID & Name
Osteosarcoma
Test Group
Sarcomas
Specialties
Test code
M70.1
Test name
MDM2 copy number FISH
Target genes
MDM2
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Parosteal osteosarcoma, dedifferentiated parosteal osteosarcoma and low grade central (intramedullary) osteosarcoma
Test code
M70.2
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
M70.3
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
M70.4
Test name
Multi-target NGS panel - copy number variant (MDM2)
Target genes
MDM2
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Parosteal osteosarcoma, dedifferentiated parosteal osteosarcoma and low grade central (intramedullary) osteosarcoma
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