Clinical Indication ID & Name
Embryonal Tumours with Multi-Layered Rosettes - Paediatric
Test Group
Neurological Tumours
Specialties
Test code
M24.1
Test name
C19MC copy number FISH
Target genes
C19MC miRNA cluster (46 genes)
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M24.2
Test name
TTYH1-C19MC FISH/RT-PCR
Target genes
TTYH1-C19MC
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M24.3
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
Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M24.4
Test name
DNA Methylation
Target genes
Methylation status of multiple CpG sites
Test scope
Methylation analysis
Test method/ technology
Methylation array (whole genome)
Optimal Family Structure
n/a
Eligibility Criteria
Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M24.5
Test name
Multi-target NGS panel - copy number variant (C19MC)
Target genes
C19MC
Test scope
Copy number variant detection to exon level resolution
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management
Test code
M24.6
Test name
Multi-target NGS panel - structural variant (TTYH1-C19MC, NTRK1, NTRK2, NTRK3)
Target genes
TTYH1-C19MC, NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Neuropathologist review indicates that molecular assessment will aid diagnosis or management / 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
Dept of Clinical Neuropathology
King’s College Hospital
 Denmark Hill
London
SE5 9RS
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
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