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

M199

Spindle Cell Soft Tissue Tumour Differential

Test Group

Sarcomas

Specialties

Test code

M199.1

Test name

Multi-target NGS panel - small variant (APC, CTNNB1)

Target genes

APC, CTNNB1

Test scope

Small 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

Test code

M199.2

Test name

Multi-target NGS panel - structural variant (ALK, BCOR, CIC, EWSR1, FUS, SS18, USP6, COL1A1-PDGFB, TPM3-ALK, TPM4-ALK, ETV6-NTRK3, NTRK1, NTRK2, NTRK3)

Target genes

ALK, BCOR, CIC, EWSR1, FUS, SS18, USP6, COL1A1-PDGFB, TPM3-ALK, TPM4-ALK, ETV6-NTRK3, 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

M199.3

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

M199.4

Test name

FUS rearrangement FISH

Target genes

FUS

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

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

Test code

M199.5

Test name

MDM2 copy number FISH

Target genes

MDM2

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

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

Test code

M199.6

Test name

SS18 rearrangement FISH or RT-PCR

Target genes

SS18

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

M199.7

Test name

USP6 rearrangement FISH

Target genes

USP6

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

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

Test code

M199.8

Test name

COL1A1-PDGFB rearrangement FISH

Target genes

COL1A1-PDGFB

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

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

Test code

M199.9

Test name

TPM3-ALK FISH/RT-PCR

Target genes

TPM3-ALK

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

M199.10

Test name

TPM4-ALK FISH/RT-PCR

Target genes

TPM4-ALK

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

M199.11

Test name

ETV6-NTRK3 RT-PCR

Target genes

ETV6-NTRK3

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

M199.12

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

Test code

M199.13

Test name

Multi-target NGS panel - copy number variant (MDM2)

Target genes

MDM2

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

Panel

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

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