Clinical Indication ID & Name
Midline Carcinoma - Paediatric
Test Group
Paediatric
Specialties
Test code
M151.1
Test name
NUTM1-BRD2 FISH/RT-PCR
Target genes
NUTM1-BRD2
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M151.2
Test name
NUTM1-BRD3 FISH/RT-PCR
Target genes
NUTM1-BRD3
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M151.3
Test name
NUTM1-BRD4 FISH/RT-PCR
Target genes
NUTM1-BRD4
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M151.4
Test name
NUTM1-CIC FISH/RT-PCR
Target genes
NUTM1-CIC
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M151.5
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 paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M151.6
Test name
Multi-target NGS panel - structural variant (NUTM1-BRD2, NUTM1-BRD3, NUTM1-BRD4, NUTM1-CIC, NTRK1, NTRK2, NTRK3)
Target genes
NUTM1-BRD2, NUTM1-BRD3, NUTM1-BRD4, NUTM1-CIC, NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Specialist paediatric 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
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