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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

M84

Chronic Myeloid Leukaemia

Test Group

Haematology

Specialties

Test code

M84.1

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

Chronic Myeloid Leukaemia or suspected Chronic Myeloid Leukaemia

Test code

M84.2

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

M84.3

Test name

BCR-ABL1 FISH

Target genes

BCR-ABL1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Chronic Myeloid Leukaemia or suspected Chronic Myeloid Leukaemia

Test code

M84.4

Test name

Karyotype (To include detection of trisomy 8, trisomy 19, -7/7q, -5/5q, i(17q), 12p-& t(9;22)(q34;q11) BCR-ABL1, 2nd Ph+[+der(22)t(9;22)(q34;q11)], ider(22)(q10)t(9;22)(q34;q11), inv(3), 11q23 rearrangements)

Target genes

To include detection of trisomy 8, trisomy 19, -7/7q, -5/5q, i(17q), 12p-& t(9;22)(q34;q11) BCR-ABL1, 2nd Ph+[+der(22)t(9;22)(q34;q11)], ider(22)(q10)t(9;22)(q34;q11), inv(3), 11q23 rearrangements

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

M84.6

Test name

FISH copy number and rearrangement Other: See tests M84.12 - M84.20 for individual specified FISH targets.

Target genes

Other: See tests M84.12 -M84.20 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

Molecular assessment will aid diagnosis or management

Test code

M84.8

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

Clinically thought to have BCR-ABL1 TKD mutations. NB has to be able to detect variants with minimum VAF of at least 5%

Test code

M84.10

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

Clinically thought to have BCR-ABL1 TKD mutations

Test code

M84.11

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

Paediatric cases only

Test code

M84.12

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

M84.13

Test name

Chr19 copy number FISH

Target genes

Chr19

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

M84.14

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

M84.15

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

M84.16

Test name

i(17q) FISH

Target genes

Chr17q

Test scope

Copy number variant detection to genomewide resolution; Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M84.17

Test name

Chr12p copy number FISH

Target genes

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

M84.18

Test name

t(9;22)(q34;q11) BCR-ABL1 FISH and related abnormalities i.e. 2nd Ph+[+der(22)t(9;22)(q34;q11)], Ider(22)(q10)t(9;22)(q34;q11)

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

M84.19

Test name

Inv(3) MECOM FISH

Target genes

Chr3

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

M84.20

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

M84.21

Test name

Multi-target NGS panel - copy number variant (trisomy 8, trisomy 19, -7/7q, -5/5q, i(17q), 12p-)

Target genes

Chr8, Chr19, Chr7/Chr7q, Chr5/Chr5q, Chr17q, 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

M84.22

Test name

Multi-target NGS panel - structural variant (To include detection of t(9;22)(q34;q11) BCR-ABL1, 2nd Ph+[+der(22)t(9;22)(q34;q11)], Ider(22)(q10)t(9;22)(q34;q11), inv(3), 11q23 rearrangements)

Target genes

BCR-ABL1, Chr9, Chr2, Chr3, Chr11q rearrangements

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

M84.23

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

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