Clinical Indication ID & Name
Pleomorphic Xanthoastrocytoma - Paediatric
Test Group
Paediatric
Specialties
Test code
M160.1
Test name
Multi-target NGS panel - small variant (BRAF, H3-3A)
Target genes
BRAF, H3-3A
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
M160.2
Test name
Multi-target NGS panel - structural variant (BRAF-KIAA1549, BRAF-FXR1, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, NTRK1, NTRK2, NTRK3)
Target genes
BRAF-KIAA1549, BRAF-FXR1, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, 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
Test code
M160.3
Test name
BRAF-KIAA1549 FISH/RT-PCR
Target genes
BRAF-KIAA1549
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
M160.4
Test name
BRAF-FXR1 FISH/RT-PCR
Target genes
BRAF-FXR1
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
M160.5
Test name
BRAF-AGK FISH/RT-PCR
Target genes
BRAF-AGK
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
M160.6
Test name
BRAF-AKAP9 FISH/RT-PCR
Target genes
BRAF-AKAP9
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
M160.7
Test name
BRAF-CCDC6 FISH/RT-PCR
Target genes
BRAF-CCDC6
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
M160.8
Test name
BRAF-FAM118B FISH/RT-PCR
Target genes
BRAF-FAM118B
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
M160.9
Test name
BRAF-GNAI1 FISH/RT-PCR
Target genes
BRAF-GNAI1
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
M160.10
Test name
BRAF-MACF1 FISH/RT-PCR
Target genes
BRAF-MACF1
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
M160.11
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
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
M160.12
Test name
KIAA1549 copy number FISH
Target genes
KIAA1549
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
M160.13
Test name
BRAF rearrangement FISH
Target genes
BRAF
Test scope
Structural variant detection
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
M160.14
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
M160.15
Test name
Multi-target NGS panel - copy number variant (KIAA1549)
Target genes
KIAA1549
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
M160.16
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
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