Clinical Indication ID & Name
Histiocytosis
Test Group
Haematology
Specialties
Test code
M117.1
Test name
Multi-target NGS panel - small variant (BRAF, MAP2K1, NRAS, KRAS, HRAS, ERBB3, ARAF, MAP3K1, PIK3CA, PIK3CD)
Target genes
BRAF, MAP2K1, NRAS, KRAS, HRAS, ERBB3, ARAF, MAP3K1, PIK3CA, PIK3CD
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.2
Test name
Multi-target NGS panel - structural variant (To include EML4-ALK, TPM3-ALK, KIF5B-ALK, MIGA1-BRAF, PACSIN2-BRAF, RNF11-BRAF, CLIP3-BRAF, LMNA-NTRK1, TPR-NTRK1, ETV3-NCOA2, rearrangements of ALK, BRAF, NTRK1)
Target genes
To include EML4-ALK, TPM3-ALK, KIF5B-ALK, MIGA1-BRAF, PACSIN2-BRAF, RNF11-BRAF, CLIP3-BRAF, LMNA-NTRK1, TPR-NTRK1, ETV3-NCOA2, rearrangements of ALK, BRAF, NTRK1
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.3
Test name
ALK rearrangement FISH
Target genes
ALK
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.4
Test name
EML4-ALK FISH/RT-PCR
Target genes
EML4-ALK
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.5
Test name
TPM3-ALK FISH/RT-PCR
Target genes
TPM3-ALK
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.6
Test name
KIF5B-ALK FISH/RT-PCR
Target genes
KIF5B-ALK
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.7
Test name
BRAF rearrangement FISH
Target genes
BRAF
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.8
Test name
MIGA1-BRAF FISH/RT-PCR
Target genes
MIGA1-BRAF
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.9
Test name
PACSIN2-BRAF FISH/RT-PCR
Target genes
PACSIN2-BRAF
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.10
Test name
RNF11-BRAF FISH/RT-PCR
Target genes
RNF11-BRAF
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.11
Test name
CLIP3-BRAF FISH/RT-PCR
Target genes
CLIP3-BRAF
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.12
Test name
NTRK1 rearrangement FISH
Target genes
NTRK1
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.13
Test name
LMNA-NTRK1 FISH/RT-PCR
Target genes
LMNA-NTRK1
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.14
Test name
TPR-NTRK1 FISH/RT-PCR
Target genes
TPR-NTRK1
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.15
Test name
ETV3-NCOA2 FISH/RT-PCR
Target genes
ETV3-NCOA2
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
All subtypes where there is diagnostic uncertainty between benign and malignant process
Test code
M117.16
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
For paediatric patients only
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