Clinical Indication ID & Name
Acute Myeloid Leukaemia
Test Group
Haematology
Specialties
Test code
M80.1
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
Both adult and paediatric patients with AML are eligible for WGS
Test code
M80.2
Test name
Multi-target NGS panel - small variant (NPM1, CEBPA, RUNX1, FLT3, IDH1, IDH2, KIT, WT1, ASXL1, SRSF2, STAG2, RAD21, TP53, KRAS, NRAS, KMT2A(MLL)-PTD), PPM1D, DDX41, PHF6, CUX1
Target genes
NPM1, CEBPA, RUNX1, FLT3, IDH1, IDH2, KIT, WT1, ASXL1, SRSF2, STAG2, RAD21, TP53, KRAS, NRAS, KMT2A(MLL)-PTD, PPM1D, DDX41, PHF6, CUX1
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
M80.3
Test name
Karyotype (To include detection of Complex karyotype, Monosomal karyotype, del5/del5q, del7/del7q, del17/del17p, del12/del12p & t(15;17)(q24;q21) PML-RARA , t(8;21)(q22;q22) RUNX1-RUNX1T1, inv(16)(p13.1q22) CBFB-MYH11, t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 (MLL i.e. KMT2A) rearrangements, t(6;9)(p22;q34) DEK-NUP214, inv(3)(q21q26) GATA2-MECOM, t(1;22)(p13;q13) RBM15-MRTFA, t(9;22)(q34;q11) BCR-ABL1, Complex karyotype, t(3;5)(q25;q34) NPM1-MLF1, t(5;11)(q35;p15.5) NUP98-NSD1, t(7;12)(q36;p13) MNX1-ETV6, inv(16)(p13.3q24.3) CBFA2T3-GLIS2), other NUP98 rearrangements
Target genes
To include detection of Complex karyotype, Monosomal karyotype, del5/del5q, del7/del7q, del17/del17p, del12/del12p & t(15;17)(q24;q21) PML-RARA , t(8;21)(q22;q22) RUNX1-RUNX1T1, inv(16)(p13.1q22) CBFB-MYH11, t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 (MLL i.e. KMT2A) rearrangements, t(6;9)(p22;q34) DEK-NUP214, inv(3)(q21q26) GATA2-MECOM, t(1;22)(p13;q13) RBM15-MRTFA, t(9;22)(q34;q11) BCR-ABL1, Complex karyotype, t(3;5)(q25;q34) NPM1-MLF1, t(5;11)(q35;p15.5) NUP98-NSD1, t(7;12)(q36;p13) MNX1-ETV6, inv(16)(p13.3q24.3) CBFA2T3-GLIS2, NUP98 rearrangements other than NUP98-NSD1
Test scope
Copy number variant detection to genomewide resolution; Structural variant detection
Test method/ technology
Karyotype or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M80.5
Test name
Other: See tests M80.25-M80.40 for individual specified FISH targets.
Target genes
Other: See tests M80.25-M80.40 for individual specified FISH targets.
Test scope
Copy number variant detection to genomewide resolution; Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Known / suspected AML with clinical reasons to suspect translocation, or indication of likely translocation on karyotyping
Test code
M80.7
Test name
Other RT-PCR: See tests M80.41-80.52 for individual specified RT-PCR targets.
Target genes
Other: See tests M80.41-80.52 for individual specified RT-PCR targets.
Test scope
Structural variant detection
Test method/ technology
RT-PCR
Optimal Family Structure
n/a
Eligibility Criteria
Known / suspected AML with clinical reasons to suspect translocation, or indication of likely translocation on karyotyping
Test code
M80.8
Test name
Multi-target NGS panel - structural variant (To include detection of t(15;17)(q24;q21) PML-RARA , t(8;21)(q22;q22) RUNX1-RUNX1T1, inv(16)(p13.1q22) CBFB-MYH11, t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 (MLL i.e. KMT2A) rearrangements, t(6;9)(p22;q34) DEK-NUP214, inv(3)(q21q26) GATA2-MECOM, t(1;22)(p13;q13) RBM15-MRTFA, t(9;22)(q34;q11) BCR-ABL1, Complex karyotype, t(3;5)(q25;q34) NPM1-MLF1, t(5;11)(q35;p15.5) NUP98-NSD1, t(7;12)(q36;p13) MNX1-ETV6, inv(16)(p13.3q24.3) CBFA2T3-GLIS2), other NUP98 rearrangements,
Target genes
To include detection of t(15;17)(q24;q21) PML-RARA , t(8;21)(q22;q22) RUNX1-RUNX1T1, inv(16)(p13.1q22) CBFB-MYH11, t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 (MLL i.e. KMT2A) rearrangements, t(6;9)(p22;q34) DEK-NUP214, inv(3)(q21q26) GATA2-MECOM, t(1;22)(p13;q13) RBM15-MRTFA, t(9;22)(q34;q11) BCR-ABL1, Complex karyotype, t(3;5)(q25;q34) NPM1-MLF1, t(5;11)(q35;p15.5) NUP98-NSD1, t(7;12)(q36;p13) MNX1-ETV6, inv(16)(p13.3q24.3) CBFA2T3-GLIS2, NUP98 rearrangements other than NUP98-NSD1
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M80.9
Test name
MRD NPM1 RT-qPCR
Target genes
NPM1 types A, B & D
Test scope
Small 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
M80.10
Test name
MRD PML-RARA RT-qPCR
Target genes
PML-RARA
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
M80.11
Test name
MRD RUNX1-RUNX1T1 RT-qPCR
Target genes
RUNX1-RUNX1t1
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
M80.12
Test name
MRD CBFB-MYH11 RT-qPCR
Target genes
CBFB-MYH11
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
M80.13
Test name
MRD BCR-ABL1 RT-qPCR
Target genes
BCR-ABL1 p190 & BCR-ABL1 p210
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
M80.14
Test name
MRD other QF-PCR
Target genes
e.g. FUS-ERG
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
M80.15
Test name
BCR-ABL1 TKD NGS
Target genes
BCR-ABL1
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Known AML with BCR-ABL1 translocation, clinically thought to have BCR-ABL1 TKD mutations
Test code
M80.17
Test name
BCR-ABL1 T315I seq
Target genes
BCR-ABL1
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Known AML with BCR-ABL1 translocation, clinically thought to have BCR-ABL1 TKD mutations
Test code
M80.18
Test name
FLT3 ITD
Target genes
FLT3
Test scope
Copy number variant detection to exon level resolution
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M80.19
Test name
Multi-target NGS panel - small variant (GATA1)
Target genes
GATA1
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
In context of Down syndrome
Test code
M80.21
Test name
FLT3 TKD hotspot
Target genes
FLT3
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
M80.22
Test name
NPM1 exon 12 hotspot
Target genes
NPM1
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
M80.23
Test name
IDH1 hotspot
Target genes
IDH1
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
M80.24
Test name
IDH2 hotspot
Target genes
IDH2
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
M80.25
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
M80.26
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
M80.27
Test name
Chr17/Chr17p copy number FISH
Target genes
Chr17/Chr17p
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
M80.28
Test name
Chr12/Chr12p copy number FISH
Target genes
Chr12/Chr12p
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
M80.29
Test name
t(15;17)(q24;q21) PML-RARA FISH
Target genes
PML-RARA
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
M80.30
Test name
t(8;21)(q22;q22) RUNX1-RUNX1T1 FISH
Target genes
RUNX1-RUNX1T1
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
M80.31
Test name
inv(16)(p13.1q22) CBFB-MYH11 FISH
Target genes
CBFB-MYH11
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
M80.32
Test name
t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 ( KMT2A) rearrangements FISH
Target genes
MLLT3-KMT2A / 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
M80.33
Test name
t(6;9)(p22;q34) DEK-NUP214 FISH
Target genes
DEK-NUP214
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
M80.34
Test name
inv(3)(q21q26) GATA2-MECOM FISH
Target genes
GATA2-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
M80.35
Test name
t(1;22)(p13;q13) RBM15-MRTFA FISH
Target genes
RBM15-MRTFA
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
M80.36
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
M80.37
Test name
t(3;5)(q25;q34) NPM1-MLF1 FISH
Target genes
NPM1-MLF1
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
M80.38
Test name
t(5;11)(q35;p15.5) NUP98-NSD1 FISH
Target genes
NUP98-NSD1
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
M80.40
Test name
inv(16)(p13.3q24.3) CBFA2T3-GLIS2 FISH
Target genes
CBFA2T3-GLIS2
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
M80.40
Test name
inv(16)(p13.3q24.3) CBFA2T3-GLIS2 FISH
Target genes
CBFA2T3-GLIS2
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
M80.41
Test name
t(15;17)(q24;q21) PML-RARA RT-PCR
Target genes
PML-RARA
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
M80.42
Test name
t(8;21)(q22;q22) RUNX1-RUNX1T1 RT-PCR
Target genes
RUNX1-RUNX1T1
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
M80.43
Test name
inv(16)(p13.1q22) CBFB-MYH11 RT-PCR
Target genes
CBFB-MYH11
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
M80.44
Test name
t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 ( KMT2A) rearrangements RT-PCR
Target genes
MLLT3-KMT2A / KMT2A
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
M80.45
Test name
t(6;9)(p22;q34) DEK-NUP214 RT-PCR
Target genes
DEK-NUP214
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
M80.46
Test name
inv(3)(q21q26) GATA2-MECOM RT-PCR
Target genes
GATA2-MECOM
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
M80.47
Test name
t(1;22)(p13;q13) RBM15-MRTFA RT-PCR
Target genes
RBM15-MRTFA
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
M80.48
Test name
t(9;22)(q34;q11) BCR-ABL1 RT-PCR
Target genes
BCR-ABL1
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
M80.49
Test name
t(3;5)(q25;q34) NPM1-MLF1 RT-PCR
Target genes
NPM1-MLF1
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
M80.50
Test name
t(5;11)(q35;p15.5) NUP98-NSD1 RT-PCR
Target genes
NUP98-NSD1
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
M80.51
Test name
t(7;12)(q36;p13) MNX1-ETV6 RT-PCR
Target genes
MNX1-ETV6
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
M80.52
Test name
inv(16)(p13.3q24.3) CBFA2T3-GLIS2 RT-PCR
Target genes
CBFA2T3-GLIS2
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
M80.53
Test name
Multi-target NGS panel - copy number variant (Monosomal karyotype, del5/del5q, del7/del7q, del17/del17p, del12/del12p)
Target genes
Monosomal karyotype, Chr5/Chr5q, Chr7/Chr7q, Chr17/Chr17p, Chr12/Chr12p
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
M80.54
Test name
NUP98 rearrangement FISH
Target genes
NUP98
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
M80.55
Test name
MRD BCR-ABL1 RT-qPCR rare
Target genes
BCR-ABL1 non-p190 & non-p210 transcripts
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
M80.56
Test name
MRD NPM1 RT-qPCR rare
Target genes
NPM1 non-A, B & D transcripts
Test scope
Small variant detection
Test method/ technology
QF-PCR or equivalent
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