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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

M80

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

South East HMDS
c/o Central Specimen Reception
Synnovis Analytics
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill, London SE5 9RS

Contact with queries

kch-tr.sehmdsreception@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Cancer Haematology Order Form Haematology Sample Log Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old