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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

M224

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

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