Order or find a test

Please continue to use the test directory below. The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Synnovis strike action: see news page for more details https://southeastgenomics.nhs.uk/synnovis-industrial-strike-action-16th-dec-20th-dec-inclusive/

Clinical Indication ID & Name

M79

Well Differentiated/Dedifferentiated Liposarcoma

Test Group

Sarcomas

Specialties

Test code

M79.1

Test name

MDM2 amplification FISH

Target genes

MDM2

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Challenging cases where diagnosis not made on morphology and immunohistochemistry alone

Test code

M79.2

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

M79.3

Test name

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

Target genes

NTRK1, NTRK2, NTRK3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected

Test code

M79.4

Test name

Multi-target NGS panel - copy number variant (MDM2, DDIT3)

Target genes

MDM2, DDIT3

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Challenging cases where diagnosis not made on morphology and immunohistochemistry alone

Test code

M79.6

Test name

DDIT3 copy number FISH

Target genes

DDIT3

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

DDIT3-amplified dedifferentiated liposarcoma in the differential diagnosis of myxoid liposarcomas

Test code

M79.7

Test name

DDIT3 copy number RT-PCR/ddPCR

Target genes

DDIT3

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

RT-PCR/ddPCR

Optimal Family Structure

n/a

Eligibility Criteria

DDIT3-amplified dedifferentiated liposarcoma in the differential diagnosis of myxoid liposarcomas

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