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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

M209

Vascular Tumour of Bone Differential

Test Group

Sarcomas

Specialties

Test code

M209.1

Test name

MYC copy number FISH

Target genes

MYC

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

M209.2

Test name

SERPINE1-FOSB FISH/RT-PCR

Target genes

SERPINE1-FOSB

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

M209.3

Test name

WWTR1-CAMTA1 RT-PCR

Target genes

WWTR1-CAMTA1

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

M209.4

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

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

Test code

M209.5

Test name

Multi-target NGS panel - structural variant (SERPINE1-FOSB, WWTR1-CAMTA1, NTRK1, NTRK2, NTRK3)

Target genes

SERPINE1-FOSB, WWTR1-CAMTA1, 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

M209.6

Test name

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

Target genes

MYC

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