Clinical Indication ID & Name
Desmoplastic Medulloblastoma - Paediatric
Test Group
Paediatric
Specialties
Test code
M133.1
Test name
Multi-target NGS panel - small variant (SUFU)
Target genes
SUFU
Test scope
Small 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
Test code
M133.2
Test name
SUFU seq
Target genes
SUFU
Test scope
Small variant detection
Test method/ technology
Single gene sequencing
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
M133.3
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
M133.4
Test name
Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)
Target genes
NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected
Test code
M133.5
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
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