Clinical Indication ID & Name
Chondroblastoma
Test Group
Sarcomas
Specialties
Test code
M47.1
Test name
SNP Array
Target genes
Dependent on clinical indication or specified request
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
Karyotype or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Rare, difficult cases where K36M Immunohistochemistry is not informative and cannot wait for WGS TAT
Test code
M47.2
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
WGS at pathologist discretion – not essential in all cases
Test code
M47.3
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
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