Clinical Indication ID & Name
High Grade Glioma - Paediatric
Test Group
Neurological Tumours
Specialties
Test code
M185.1
Test name
Multi-target NGS panel - small variant (CDKN2B)
Target genes
CDKN2B
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
M185.2
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
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
M185.3
Test name
1p19q codel FISH/RT-PCR
Target genes
1p19q codel
Test scope
Copy number variant detection to genomewide resolution
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
M185.4
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
M185.5
Test name
Multi-target NGS panel - copy number variant (1p, 19q)
Target genes
1p19q codel
Test scope
Copy number variant detection to genomewide 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
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