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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

M82

Myelodysplasia

Test Group

Haematology

Specialties

Test code

M82.1

Test name

Multi-target NGS panel - small variant (TP53, SF3B1, IDH1, IDH2, NRAS, KRAS, TET2, SRSF2, ASXL1, DNMT3A, RUNX1, U2AF1, EZH2, BCOR, PTPN11, JAK2, SETBP1, PPM1D, DDX41, PHF6, CUX1, UBA1)

Target genes

TP53, SF3B1, IDH1, IDH2, NRAS, KRAS, TET2, SRSF2, ASXL1, DNMT3A, RUNX1, U2AF1, EZH2, BCOR, PTPN11, JAK2, SETBP1, PPM1D, DDX41, PHF6, CUX1, UBA1

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.2

Test name

Karyotype (To include detection of complex karyotype, -7/del7q, -5/del5q, i(17q)/t(17p), -13/del13q, del11q, del12p/t(12p), del9q, del17/del17p & idic(X)(q13)); -Y; del 20q; +8; +19,(inv(3)/t(3q)/del(3q))

Target genes

To include detection of complex karyotype, -7/del7q, -5/del5q, i(17q)/t(17p), -13/del13q, del11q, del12p/t(12p), del9q, del17/del17p & idic(X)(q13);-Y; del 20q; +8; +19,(inv(3)/t(3q)/del(3q))

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.4

Test name

FISH copy number and rearrangement Other: See tests M82.7 -M82.22 for individual specified FISH targets.

Target genes

Other: See tests M82.7 -M82.22 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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.6

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

M82.7

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.8

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.9

Test name

i(17q)/t(17p) FISH

Target genes

Chr17/chr17p

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.10

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.11

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.12

Test name

Chr12p copy number FISH, t(12p) rearrangement FISH

Target genes

Chr12p

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.13

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.14

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.15

Test name

idic(X)(q13) FISH

Target genes

ChrX

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.16

Test name

Multi-target NGS panel - copy number variant (-7/del7q, -5/del5q, -13/del13q, del11q, del12p, del9q, del17/del17p & idic(X)(q13);-Y; del 20q; +8; +19,del(3q)

Target genes

Chr7/Chr7q, Chr5/Chr5q, Chr13/Chr13q, Chr11q, Chr12p, Chr9q, Chr17/Ch17p, ChrX, ChrY/Chr20/20q/Chr8/Chr19/Chr3

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.17

Test name

Multi-target NGS panel - structural variant (t(12p), t(17p);inv(3)/t(3q)/del(3q)

Target genes

Chr12p, Chr17p,ChrY,Chr20/20q,Chr8,Chr19,Chr3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.18

Test name

ChrY copy number FISH

Target genes

ChrY

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.19

Test name

Chr20/20q copy number FISH

Target genes

Chr20

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.20

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.21

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. Known or suspected / high risk for the development of myelodysplasia

Test code

M82.22

Test name

inv(3)/t(3q)/del(3q)

Target genes

Chr3(MECOM)

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia

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