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.

Round Cell Sarcoma of Soft Tissue Differential

Clinical Indication ID & Name

M197

Round Cell Sarcoma of Soft Tissue Differential

Test Group

Sarcomas

Specialties

Test code

M197.1

Test name

Multi-target NGS panel - structural variant (BCOR, CIC, DDIT3, EWSR1, FOXO1, WT1, BCOR-CCNB3, HEY1-NCOA2, PAX3-FOXO1, PAX7-FOXO1, NTRK1, NTRK2, NTRK3)

Target genes

BCOR, CIC, DDIT3, EWSR1, FOXO1, WT1, BCOR-CCNB3, HEY1-NCOA2, PAX3-FOXO1, PAX7-FOXO1, NTRK1, NTRK2, NTRK3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management / Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected

Test code

M197.2

Test name

DDIT3 rearrangement FISH or RT-PCR

Target genes

DDIT3

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M197.3

Test name

EWSR1 rearrangement FISH or RT-PCR

Target genes

EWSR1

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M197.4

Test name

FOXO1 rearrangement FISH or RT-PCR

Target genes

FOXO1

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M197.5

Test name

WT1 rearrangement FISH or RT-PCR

Target genes

WT1

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M197.6

Test name

BCOR-CCNB3 RT-PCR

Target genes

BCOR-CCNB3

Test scope

Structural variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M197.7

Test name

HEY1-NCOA2 RT-PCR

Target genes

HEY1-NCOA2

Test scope

Structural variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M197.8

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

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M197.9

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

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M197.10

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

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

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

Cancer WGS Clinician pack

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