Clinical Indication ID & Name
Acute Leukaemia Other
Test Group
Haematology
Specialties
Test code
M89.1
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
M89.2
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, 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, hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy, del(1)(p33p33), iAMP21, copy number changes of IKZF1, CDKN2A, CDKN2B, BTG1, EBF1, PAX5, RB1, PAR1 region (CRLF2, CSF2RA, IL3RA) , ETV6, t(12;21)(p13;q22) ETV6-RUNX1, t(1;19)(q23;p13) TCF3-PBX1, t(17;19)(q22;p13) TCF3-HLF, t(4;11)(q21;q23) KMT2A-AFF1, t(11;19)(q23;p13.3) KMT2A-MLLT1, t(6;11)(q27;q23) KMT2A-AFDN, t(10;11)(p12;q23) KMT2A-MLLT10, t(11;19)(q23;p13.1) KMT2A-ELL, t(1;7)(p32;q11) TRB-TAL1, t(11;14)(p15;q11) TRD-LMO1, t(7;11)(p15;p15) NUP98-HOXA13, t(10;14)(q24;q11) TLX1-TRD, t(7;10)(q34;q24) TRB-TLX1, t(5;14)(q35;q32.2) BCL11B-TLX3, rearrangements of TAL1, TLX1, TLX3, PDGFRA, PDGFRB, ABL1, JAK2, KMT2A, ABL2, CSF1R, 14Q32, CRLF2, EPOR)
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, 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, high hyperdiploidy, near haploidy, low hypodiploidy, del(1)(p33p33), iAMP21, copy number changes of IKZF1, CDKN2A, CDKN2B, BTG1, EBF1, PAX5, RB1, PAR1 region (CRLF2, CSF2RA, IL3RA) , ETV6, t(12;21)(p13;q22) ETV6-RUNX1, t(1;19)(q23;p13) TCF3-PBX1, t(17;19)(q22;p13) TCF3-HLF, t(4;11)(q21;q23) KMT2A-AFF1, t(11;19)(q23;p13.3) KMT2A-MLLT1, t(6;11)(q27;q23) KMT2A-AFDN, t(10;11)(p12;q23) KMT2A-MLLT10, t(11;19)(q23;p13.1) KMT2A-ELL, t(1;7)(p32;q11) TRB-TAL1, t(11;14)(p15;q11) TRD-LMO1, t(7;11)(p15;p15) NUP98-HOXA13, t(10;14)(q24;q11) TLX1-TRD, t(7;10)(q34;q24) TRB-TLX1, t(5;14)(q35;q32.2) BCL11B-TLX3, rearrangements of TAL1, TLX1, TLX3, PDGFRA, PDGFRB, ABL1, JAK2, KMT2A, ABL2, CSF1R, 14Q32, CRLF2, EPOR
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
M89.3
Test name
FISH copy number and rearrangement other
Target genes
Other: See tests M89.24-M89.77 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
M89.4
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, ETV6, NOTCH1, FBXW7, PTEN, HRAS)
Target genes
NPM1, CEBPA, RUNX1, FLT3, IDH1, IDH2, KIT, WT1, ASXL1, SRSF2, STAG2, RAD21, TP53, KRAS, NRAS, KMT2A(MLL)-PTD, PPM1D, ETV6, NOTCH1, FBXW7, PTEN, HRAS
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
M89.5
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
M89.6
Test name
Other RT-PCR
Target genes
Other: See tests M89.78-M89.103 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
M89.7
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) t(12;21)(p13;q22), other NUP98 rearrangements, ETV6-RUNX1, t(1;19)(q23;p13) TCF3-PBX1, t(17;19)(q22;p13) TCF3-HLF, t(4;11)(q21;q23) KMT2A-AFF1, t(11;19)(q23;p13.3) KMT2A-MLLT1, t(6;11)(q27;q23) KMT2A-AFDN, t(10;11)(p12;q23) KMT2A-MLLT10, t(11;19)(q23;p13.1) KMT2A-ELL, t(1;7)(p32;q11) TRB-TAL1, t(11;14)(p15;q11) TRD-LMO1, t(7;11)(p15;p15) NUP98-HOXA13, t(10;14)(q24;q11) TLX1-TRD, t(7;10)(q34;q24) TRB-TLX1, t(5;14)(q35;q32.2) BCL11B-TLX3, rearrangements of TAL1, TLX1, TLX3, PDGFRA, PDGFRB, ABL1, JAK2, KMT2A, ABL2, CSF1R, 14Q32, CRLF2, EPOR)
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, ETV6-RUNX1, t(1;19)(q23;p13) TCF3-PBX1, t(17;19)(q22;p13) TCF3-HLF, t(4;11)(q21;q23) KMT2A-AFF1, t(11;19)(q23;p13.3) KMT2A-MLLT1, t(6;11)(q27;q23) KMT2A-AFDN, t(10;11)(p12;q23) KMT2A-MLLT10, t(11;19)(q23;p13.1) KMT2A-ELL, t(1;7)(p32;q11) TRB-TAL1, t(11;14)(p15;q11) TRD-LMO1, t(7;11)(p15;p15) NUP98-HOXA13, t(10;14)(q24;q11) TLX1-TRD, t(7;10)(q34;q24) TRB-TLX1, t(5;14)(q35;q32.2) BCL11B-TLX3, rearrangements of TAL1, TLX1, TLX3, PDGFRA, PDGFRB, ABL1, JAK2, KMT2A, ABL2, CSF1R, 14Q32, CRLF2, EPOR
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
M89.8
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
M89.9
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
M89.10
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
M89.11
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
M89.12
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
M89.13
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
M89.14
Test name
MRD other QF-PCR
Target genes
e.g. FUS-ERG, t(9;22)(q34:q11) ETV6-RUNX1, t(1;19)(q23;p13) TCF3-PBX1, t(17;19)(q22;p13) TCF3-HLF, t(4;11)(q21;q23) KMT2A-AFF1, t(11;19)(q23;p13.3) KMT2A-MLLT1, t(6;11)(q27;q23) KMT2A-AFDN, t(9;11)(p21;q23) KMT2A-MLLT3,
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
M89.15
Test name
MRD target identification (Ig/TCR gene rearrangement by PCR & sequencing with MRD workup via QF-PCR)
Target genes
IGH, IGK, IGL, (TRA), TRB, TRG, TCRD
Test scope
Complex variant detection
Test method/ technology
Multiple
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M89.16
Test name
MRD quantification (Ig/TCR gene rearrangement MRD QF-PCR )
Target genes
IGH, IGK, IGL, (TRA), TRB, TRG, TCRD
Test scope
Complex variant detection
Test method/ technology
Complex targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M89.17
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
M89.19
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
M89.20
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
M89.21
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
M89.22
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
M89.23
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
M89.24
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
M89.25
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
M89.26
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
M89.27
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
M89.28
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
M89.29
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
M89.30
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
M89.31
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
M89.32
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
M89.33
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
M89.34
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
M89.35
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
M89.37
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
M89.37
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
M89.38
Test name
t(7;12)(q36;p13) MNX1-ETV6 FISH
Target genes
MNX1-ETV6
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
M89.39
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
M89.40
Test name
Global copy number change FISH (i.e. hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy)
Target genes
Multiple chromosomes
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
M89.41
Test name
del(1)(p33p33) FISH
Target genes
TAL1
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
M89.42
Test name
iAMP21 FISH
Target genes
Chr21 (RUNX1)
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
M89.52
Test name
t(12;21)(p13;q22) ETV6-RUNX1 FISH
Target genes
ETV6-RUNX1
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
M89.53
Test name
t(1;19)(q23;p13) TCF3-PBX1 FISH
Target genes
TCF3-PBX1
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
M89.54
Test name
t(17;19)(q22;p13) TCF3-HLF FISH
Target genes
TCF3-HLF
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
M89.55
Test name
t(4;11)(q21;q23) KMT2A-AFF1 FISH
Target genes
KMT2A-AFF1
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
M89.56
Test name
t(11;19)(q23;p13.3) KMT2A-MLLT1 FISH
Target genes
KMT2A-MLLT1
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
M89.57
Test name
t(6;11)(q27;q23) KMT2A-AFDN FISH
Target genes
KMT2A-AFDN
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
M89.58
Test name
t(10;11)(p12;q23) KMT2A-MLLT10 FISH
Target genes
KMT2A-MLLT10
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
M89.59
Test name
t(11;19)(q23;p13.1) KMT2A-ELL FISH
Target genes
KMT2A-ELL
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
M89.60
Test name
t(1;7)(p32;q11) TRB-TAL1 FISH
Target genes
TRB-TAL1
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
M89.61
Test name
t(11;14)(p15;q11) TRD-LMO1 FISH
Target genes
TRD-LMO1
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
M89.62
Test name
t(7;11)(p15;p15) NUP98-HOXA13 FISH
Target genes
NUP98-HOXA13
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
M89.63
Test name
t(10;14)(q24;q11) TLX1-TRD FISH
Target genes
TLX1-TRD
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
M89.64
Test name
t(7;10)(q34;q24) TRB-TLX1 FISH
Target genes
TRB-TLX1
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
M89.65
Test name
t(5;14)(q35;q32.2) BCL11B-TLX3 FISH
Target genes
BCL11B-TLX3
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
M89.66
Test name
TAL1 rearrangement FISH (other than TRB-TAL1 see M91.45)
Target genes
TAL1
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
M89.67
Test name
TLX1 rearrangement FISH (other than TLX1-TRD & TRB-TLX1 see M91.48 & M91.49)
Target genes
TLX1
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
M89.68
Test name
PDGFRA rearrangement FISH
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
M89.69
Test name
PDGFRB rearrangement FISH
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
M89.70
Test name
ABL1 rearrangement FISH (other than BCR-ABL1 see M91.10)
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
M89.71
Test name
JAK2 rearrangement FISH
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
M89.72
Test name
KMT2A rearrangement FISH (other than specific rearrangements described in tests M91.30-91,44)
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
M89.73
Test name
ABL2 rearrangement FISH
Target genes
ABL2
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
M89.74
Test name
CSF1R rearrangement FISH
Target genes
CSF1R
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
M89.75
Test name
14q32 (IGH) rearrangement FISH
Target genes
IGH
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
M89.76
Test name
CRLF2 rearrangement FISH
Target genes
CRLF2
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
M89.77
Test name
EPOR rearrangement FISH
Target genes
EPOR
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
M89.78
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
M89.79
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
M89.80
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
M89.81
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
M89.82
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
M89.83
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
M89.84
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
M89.85
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
M89.86
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
M89.87
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
M89.88
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
M89.89
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
M89.90
Test name
t(12;21)(p13;q22) ETV6-RUNX1 RT-PCR
Target genes
ETV6-RUNX1
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
M89.91
Test name
t(1;19)(q23;p13) TCF3-PBX1 RT-PCR
Target genes
TCF3-PBX1
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
M89.92
Test name
t(17;19)(q22;p13) TCF3-HLF RT-PCR
Target genes
TCF3-HLF
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
M89.93
Test name
t(4;11)(q21;q23) KMT2A-AFF1 RT-PCR
Target genes
KMT2A-AFF1
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
M89.94
Test name
t(11;19)(q23;p13.3) KMT2A-MLLT1 RT-PCR
Target genes
KMT2A-MLLT1
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
M89.95
Test name
t(6;11)(q27;q23) KMT2A-AFDN RT-PCR
Target genes
KMT2A-AFDN
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
M89.96
Test name
t(10;11)(p12;q23) KMT2A-MLLT10 RT-PCR
Target genes
KMT2A-MLLT10
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
M89.97
Test name
t(11;19)(q23;p13.1) KMT2A-ELL RT-PCR
Target genes
KMT2A-ELL
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
M89.98
Test name
t(1;7)(p32;q11) TRB-TAL1 RT-PCR
Target genes
TRB-TAL1
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
M89.99
Test name
t(11;14)(p15;q11) TRD-LMO1 RT-PCR
Target genes
TRB-TAL1
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
M89.100
Test name
t(7;11)(p15;p15) NUP98-HOXA13 RT-PCR
Target genes
NUP98-HOXA13
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
M89.101
Test name
t(10;14)(q24;q11) TLX1-TRD RT-PCR
Target genes
TLX1-TRD
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
M89.102
Test name
t(7;10)(q34;q24) TRB-TLX1 RT-PCR
Target genes
TRB-TLX1
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
M89.103
Test name
t(5;14)(q35;q32.2) BCL11B-TLX3 RT-PCR
Target genes
BCL11B-TLX3
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
M89.104
Test name
Multi-target NGS panel - copy number variant (Monosomal karyotype, del5/del5q, del7/del7q, del17/del17p, del12/del12p, hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy, Chr1p33, Chr21, copy number changes of IKZF1, CDKN2A, CDKN2B, BTG1, EBF1, PAX5, RB1, PAR1 region (CRLF2, CSF2RA, IL3RA) , ETV6)
Target genes
Monosomal karyotype, Chr5/Chr5q, Chr7/Chr7q, Chr17/Chr17p, Chr12/Chr12p, hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy, Chr1p33, Chr21, copy number changes of IKZF1, CDKN2A, CDKN2B, BTG1, EBF1, PAX5, RB1, PAR1 region (CRLF2, CSF2RA, IL3RA) , ETV6
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
M89.105
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
M89.107
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
Test code
M89.107
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