Clinical Indication ID & Name
Dermatofibrosarcoma Protuberans
Test Group
Sarcomas
Specialties
Test code
M50.1
Test name
COL1A1-PDGFB rearrangement FISH
Target genes
COL1A1-PDGFB
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M50.2
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
M50.3
Test name
Multi-target NGS panel - structural variant (COL1A1-PDGFB, NTRK1, NTRK2, NTRK3)
Target genes
COL1A1-PDGFB, 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
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
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
n/a
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old