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

M42

Alveolar Rhabdomyosarcoma

Test Group

Sarcomas

Specialties

Test code

M42.1

Test name

FOXO1 rearrangement FISH

Target genes

FOXO1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

To differentiate from embryonal rhabdomyosarcoma

Test code

M42.2

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

M42.3

Test name

PAX7-FOXO1 rearrangement FISH or RT-PCR

Target genes

PAX7-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

M42.4

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

WGS at pathologist discretion – not essential in all cases

Test code

M42.5

Test name

Multi-target NGS panel - structural variant (FOXO1, PAX3-FOXO1, PAX7-FOXO1 NTRK1, NTRK2, NTRK3)

Target genes

FOXO1, PAX3-FOXO1, PAX7-FOXO1 NTRK1, NTRK2, NTRK3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

To differentiate from embryonal rhabdomyosarcoma / Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected

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

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

n/a

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