Clinical Indication ID & Name
Alveolar Soft Part Sarcoma
Test Group
Sarcomas
Specialties
Test code
M43.1
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
Challenging cases where Immunohistochemistry for TFE-3 and morphology insufficient to make diagnosis
Test code
M43.2
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
M43.3
Test name
Multi-target NGS panel - structural variant (TFE3, NTRK1, NTRK2, NTRK3)
Target genes
TFE3, NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Challenging cases where Immunohistochemistry for TFE-3 and morphology insufficient to make diagnosis / 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