Order or find a test

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

M90

Blastic Plasmacytoid Dendritic Cell Neoplasm

Test Group

Haematology

Specialties

Test code

M90.1

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 blastic plasmacytoid dendritic cell neoplasm are eligible for WG S

Test code

M90.2

Test name

PAX3-FOXO1 rearrangement FISH or RT-PCR

Target genes

PAX3-FOXO1

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

To differentiate from embryonal rhabdomyosarcoma

Test code

M90.3

Test name

FISH copy number and rearrangement

Target genes

As appropriate

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

M90.4

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)

Target genes

NPM1, CEBPA, RUNX1, FLT3, IDH1, IDH2, KIT, WT1, ASXL1, SRSF2, STAG2, RAD21, TP53, KRAS, NRAS, KMT2A(MLL)-PTD

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

M90.5

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

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