Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Juvenile Myelomonocytic Leukaemia

Clinical Indication ID & Name

M88

Juvenile Myelomonocytic Leukaemia

Test Group

Haematology

Specialties

Test code

M88.1

Test name

Multi-target NGS panel - small variant (PTPN11, KRAS, NRAS, NF1, CBL)

Target genes

PTPN11, KRAS, NRAS, NF1, CBL

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

If not undergoing WGS as a paediatric tumour

Test code

M88.2

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 patients only

Test code

M88.3

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

M88.4

Test name

Karyotype

Target genes

Genomewide

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

M88.5

Test name

FISH copy number and rearrangement Other: See tests M88.7-M88.9 for individual specified FISH targets.

Target genes

Other: See tests M88.7-M88.9 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

M88.7

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

M88.8

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

M88.9

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

M88.10

Test name

Multi-target NGS panel - copy number variant (-7/del7q, -5/del5q, trisomy 8)

Target genes

Chr7/Chr7q, Chr5/Chr5q, 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

Test name

N/A

Target genes

Test scope

n/a

Test method/ technology

n/a

Optimal Family Structure

n/a

Eligibility Criteria

n/a

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

rmh-tr.moleculardiagnostics@nhs.net

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