Clinical Indication ID & Name
Bone Forming Bone Tumour Differential
Test Group
Sarcomas
Specialties
Test code
M206.1
Test name
Multi-target NGS panel - small variant (H3-3A, H3-3B)
Target genes
H3-3A, H3-3B
Test scope
Small 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
Test code
M206.2
Test name
H3-3B hotspot
Target genes
H3-3B
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M206.3
Test name
H3-3A seq
Target genes
H3-3A
Test scope
Small variant detection
Test method/ technology
Single gene sequencing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M206.4
Test name
H3-3B seq
Target genes
H3-3B
Test scope
Small variant detection
Test method/ technology
Single gene sequencing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M206.5
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
Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M206.6
Test name
USP6 rearrangement FISH
Target genes
USP6
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
M206.7
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
M206.8
Test name
Multi-target NGS panel - structural variant (USP6, NTRK1, NTRK2, NTRK3)
Target genes
USP6, 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
Test code
M206.9
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
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
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