Clinical Indication ID & Name
Inflammatory Myofibroblastic Tumour
Test Group
Sarcomas
Specialties
Test code
M63.1
Test name
TPM4-ALK FISH/RT-PCR
Target genes
TPM4-ALK
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
If diagnosis not possible with morphology alone
Test code
M63.2
Test name
TPM3-ALK FISH/RT-PCR
Target genes
TPM3-ALK
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
If diagnosis not possible with morphology alone
Test code
M63.3
Test name
Multi-target NGS panel - structural variant (ALK, TPM4-ALK, TPM3-ALK, NTRK1, NTRK2, NTRK3)
Target genes
ALK, TPM4-ALK, TPM3-ALK, NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
If diagnosis not possible with morphology alone and no TPM3-ALK or TPM4-ALK rearrangement demonstrated / Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected
Test code
M63.4
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