Clinical Indication ID & Name
Glial and Glioneuronal Tumour Differential - Paediatric
Test Group
Neurological Tumours
Specialties
Test code
M213.1
Test name
Multi-target NGS panel - small variant (SMARCA4, SMARCB1, DDX3X, CTNNB1, CDKN2A, TP53, RAF1, PIK3CA, FGFR1, FGFR4, KIT, BRAF, H3-3A, ALK, ATRX, NRAS, PHOX2B)
Target genes
SMARCA4, SMARCB1, DDX3X, CTNNB1, CDKN2A, TP53, RAF1, PIK3CA, FGFR1, FGFR4, KIT, BRAF, H3-3A, ALK, ATRX, NRAS, PHOX2B
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
M213.2
Test name
Multi-target NGS panel - structural variant (BRAF-KIAA1549, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-FXR1, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, ALK, C11orf95-RELA, EWSR1, FGFR1, RAF1-NF1A, RAF1-SRGAP3, RELA, YAP1, YAP1-C11orf95, YAP1-TFE3, EGFRvIII, NTRK1, NTRK2, NTRK3)
Target genes
BRAF-KIAA1549, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-FXR1, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, ALK, C11orf95-RELA, EWSR1, FGFR1, RAF1-NF1A, RAF1-SRGAP3, RELA, YAP1, YAP1-C11orf95, YAP1-TFE3, EGFRvIII, 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
M213.3
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
M213.4
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
M213.5
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
M213.6
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
M213.7
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
M213.8
Test name
BRAF-FRX1 FISH/RT-PCR
Target genes
BRAF-FRX1
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
M213.9
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
M213.10
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
M213.11
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
M213.12
Test name
ALK-NPM1 rearrangement FISH
Target genes
ALK-NPM1
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
M213.13
Test name
C11orf95-RELA FISH/RT-PCR
Target genes
C11orf95-RELA
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
M213.14
Test name
EWSR1 rearrangement FISH
Target genes
EWSR1
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
M213.15
Test name
FGFR1 rearrangement FISH
Target genes
FGFR1
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
M213.16
Test name
RAF1-NF1A FISH/RT-PCR
Target genes
RAF1 -NF1A
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
M213.17
Test name
RAF1-SRGAP3 FISH/RT-PCR
Target genes
RAF1-SRGAP3
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
M213.18
Test name
RELA rearrangement FISH/RT-PCR
Target genes
RELA
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
M213.19
Test name
YAP1 rearrangement FISH/RT-PCR
Target genes
YAP1
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
M213.20
Test name
YAP1-C11orf95 FISH/RT-PCR
Target genes
YAP1-C11orf95
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
M213.21
Test name
YAP1-TFE3 FISH/RT-PCR
Target genes
YAP1-TFE3
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
M213.22
Test name
Multi-target NGS panel - copy number variant (1p, 19q, EGFR, ALK, C19MC, CDKN2A, FGFR1, KIAA1549, KIT, MYCN, PDGFRA, SMARCA4, SMARCB1, YAP1)
Target genes
1p19q codel, EGFR, ALK, C19MC, CDKN2A, FGFR1, KIAA1549, KIT, MYCN, PDGFRA, SMARCA4, SMARCB1, YAP1
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
M213.23
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
M213.24
Test name
ALK copy number FISH
Target genes
ALK
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
M213.25
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
M213.26
Test name
CDKN2A copy number FISH
Target genes
CDKN2A
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
M213.27
Test name
EGFR copy number FISH
Target genes
EGFR
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
M213.28
Test name
FGFR1 ITD FISH
Target genes
FGFR1
Test scope
Copy number variant detection to exon level 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
M213.29
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
M213.30
Test name
KIT copy number FISH
Target genes
KIT
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
M213.31
Test name
MYCN copy number FISH
Target genes
MYCN
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
M213.32
Test name
PDGFRA FISH/RT-PCR
Target genes
PDGFRA
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
M213.33
Test name
SMARCA4 copy number FISH
Target genes
SMARCA4
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
M213.34
Test name
SMARCB1 copy number FISH
Target genes
SMARCB1
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
M213.35
Test name
YAP1 copy number FISH
Target genes
YAP1
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
M213.36
Test name
EGFRvIII RT-PCR
Target genes
EGFRvIII
Test scope
Structural variant detection
Test method/ technology
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
M213.37
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
M213.38
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