Clinical Indication ID & Name
MDS/MPN
Test Group
Haematology
Specialties
Test code
M224.1
Test name
Multi-target NGS panel - small variant (KRAS, NRAS, TP53, JAK2, CALR, MPL, ASXL1, CBL, CSF3R, CUX1, DNMT3A, EZH2, IDH1, IDH2, IKZF1, KIT, NFE2, SF3B1, SH2B3, SRSF2, TET2, U2AF1, HRAS, RUNX1, SETBP1, ZRSR2, BCOR, PTPN11,FLT3, NF1 & NPM1)
Target genes
KRAS, NRAS, TP53, JAK2, CALR, MPL, ASXL1, CBL, CSF3R, CUX1, DNMT3A, EZH2, IDH1, IDH2, IKZF1, KIT, NFE2, SF3B1, SH2B3, SRSF2, TET2, U2AF1, HRAS, RUNX1, SETBP1, ZRSR2, BCOR, PTPN11,FLT3, NF1 & NPM1
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.2
Test name
Karyotype (To include detection of complex karyotype, cryptic deletion of 4q12, -7/del7q, -5/del5q, i(17q)/t(17p), -13/del13q, del11q, del12p/t(12p), del9q, del17/del17p & idic(x)(q13), t(9;22)(q34;q11) BCR-ABL1, del(4)(q12q12) FIP1L1-PDGFRA, other PDGFRA rearrangements, t(5;12)(q33;p13) ETV6-PDGFRB, other PDGFRB rearrangements, FGFR1 rearrangements, t(8;9)(p22;p24) PCM1-JAK2, inv(3), 11q23, rearrangements of ABL1, JAK2, FLT3, RET, NTRK3)
Target genes
To include detection of complex karyotype, cryptic deletion of 4q12, -7/del7q, -5/del5q, i(17q)/t(17p), -13/del13q, del11q, del12p/t(12p), del9q, del17/del17p & idic(x)(q13), t(9;22)(q34;q11) BCR-ABL1, del(4)(q12q12) FIP1L1-PDGFRA, other PDGFRA rearrangements, t(5;12)(q33;p13) ETV6-PDGFRB, other PDGFRB rearrangements, FGFR1 rearrangements, t(8;9)(p22;p24) PCM1-JAK2, inv(3), 11q23, rearrangements of ABL1, JAK2, FLT3, RET, NTRK3)
Test scope
Copy number variant detection to genomewide resolution by Karyotype or equivalent
Test method/ technology
Karyotype or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.3
Test name
FISH copy number and rearrangement Other: See tests M224. -M224. for individual specified FISH targets.
Target genes
Other: See tests M224.4 -M224.38 for individual specified FISH targets.
Test scope
Copy number variant detection to genomewide resolution by Karyotype or equivalent
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.4
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 cases only
Test code
M224.5
Test name
Multi-target NGS limited panel - small variant (JAK2, CALR, MPL)
Target genes
JAK2, CALR, MPL
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.6
Test name
FIP1L1-PDGFRA FISH/RT-PCR
Target genes
FIP1L1-PDGFRA
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.7
Test name
FIP1L1-PDGFRA RT-qPCR
Target genes
FIP1L1-PDGFRA
Test scope
Structural variant detection
Test method/ technology
QF-PCR or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.8
Test name
ETV6-PDGFRB FISH/RT-PCR
Target genes
ETV6-PDGFRB
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.9
Test name
PCM1-JAK2 FISH/RT-PCR
Target genes
PCM1-JAK2
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.10
Test name
BCR-ABL1 multiplex
Target genes
BCR-ABL1
Test scope
Structural variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.11
Test name
Other RT-PCR
Target genes
Other
Test scope
Structural variant detection
Test method/ technology
RT-PCR
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.13
Test name
JAK2 V617F hotspot
Target genes
JAK2
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.14
Test name
JAK2 exon 12 hotspot
Target genes
JAK2
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.15
Test name
CALR exon 9 hotspot
Target genes
CALR
Test scope
Small variant detection
Test method/ technology
Single gene sequencing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.16
Test name
MPL exon 10 hotspot
Target genes
MPL
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.18
Test name
Chr8 copy number FISH
Target genes
Chr8
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.19
Test name
Chr7/Chr7q copy number FISH
Target genes
Chr7/chr7q
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.20
Test name
Chr5/Chr5q copy number FISH
Target genes
Chr5/chr5q
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.21
Test name
i(17q)/t(17p) FISH
Target genes
Chr17q
Test scope
Copy number variant detection to genomewide resolution by Karyotype or equivalent
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.22
Test name
Chr12p copy number FISH, t(12p) rearrangement FISH
Target genes
Chr12p
Test scope
Copy number variant detection to genomewide resolution by Karyotype or equivalent
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.23
Test name
t(9;22)(q34;q11) BCR-ABL1 FISH
Target genes
BCR-ABL1
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.24
Test name
PDGFRA rearrangement FISH (other than FIP1L1-PDGFRA see M85.7)
Target genes
PDGFRA
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.25
Test name
PDGFRB rearrangement FISH (other than ETV6-PDGFRB see M85.9)
Target genes
PDGFRB
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.26
Test name
FGFR1 rearrangement FISH
Target genes
FGFR1
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.27
Test name
JAK2 rearrangement FISH (other than PCM1-JAK2 see M85.10)
Target genes
JAK2
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.28
Test name
inv(3)/t(3;3) FISH
Target genes
MECOM
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.29
Test name
11q23 (KMT2A) rearrangement FISH
Target genes
KMT2A
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.30
Test name
ABL1 rearrangement FISH (other than BCR-ABL1 see M85.24)
Target genes
ABL1
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.31
Test name
FLT3 rearragement FISH
Target genes
FLT3
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.32
Test name
RET rearrangement FISH
Target genes
RET
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.33
Test name
NTRK3 rearrangement FISH
Target genes
NTRK3
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.34
Test name
Chr13/Chr13q copy number FISH
Target genes
Chr13/chr13q
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.35
Test name
Chr11q copy number FISH
Target genes
Chr11q
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.36
Test name
Chr9q copy number FISH
Target genes
Chr9q
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.38
Test name
idic(X)(q13) FISH
Target genes
ChrX
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.38
Test name
idic(X)(q13) FISH
Target genes
ChrX
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.39
Test name
Multi-target NGS panel - copy number variant (-7/del7q, -5/del5q, -13/del13q, del11q, del12p, del9q, del17/del17p/i(17q) & idic(X)(q13), cryptic deletion of 4q12, trisomy 8)
Target genes
Chr7/Chr7q, Chr5/Chr5q, Chr13/Chr13q, Chr11q, Chr12p, Chr9q, Chr17/Ch17p, ChrX, Chr4q12, Chr8
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M224.40
Test name
Multi-target NGS panel - structural variant (to include t(9;22)(q34;q11) BCR-ABL1, del(4)(q12q12) FIP1L1-PDGFRA, other PDGFRA rearrangements, t(5;12)(q33;p13) ETV6-PDGFRB, other PDGFRB rearrangements, FGFR1 rearrangements, t(8;9)(p22;p24) PCM1-JAK2, inv(3), 11q23, rearrangements of ABL1, JAK2, FLT3, RET, NTRK3, (t(12p), t(17p))
Target genes
BCR-ABL1, FIP1L1-PDGFRA, other PDGFRA rearrangements, ETV6-PDGFRB, other PDGFRB rearrangements, FGFR1 rearrangements, PCM1-JAK2, inv(3), 11q23, rearrangements of ABL1, JAK2, FLT3, RET, NTRK3, Chr12p, Chr17p
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
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