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

M15

Head and Neck Squamous Cell Carcinoma

Test Group

Solid Tumours (Adult)

Specialties

Test code

M15.1

Test name

Multi-target NGS panel - small variant (CDKN2A, EGFR, TP53)

Target genes

CDKN2A, EGFR, TP53

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M15.2

Test name

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

Target genes

RET, NTRK1, NTRK2, NTRK3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

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

M15.3

Test name

Multi-target NGS panel - copy number variant (CDKN2A, TP53)

Target genes

CDKN2A, TP53

Test scope

Copy number variant detection to exon level resolution

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M15.4

Test name

RET rearrangement FISH/RT-PC

Target genes

RET

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M15.5

Test name

del(17p) TP53 copy number FISH

Target genes

TP53

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M15.6

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

M15.7

Test name

DPYD hotspot

Target genes

DPYD

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Patient planned to receive fluoropyrimidine treatment

Commissioning group

n/a

Overlapping idications

n/a

Address for samples/request forms

Cancer Genetics
Genetics Laboratories
5th Floor Tower Wing
Guy’s Hospital
Great Maze Pond
London
SE1 9RT

Contact with queries

gst-tr.gtabsoutheastglh@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

Solid Tumour Request Form WGS Record of Discussion

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