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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

M4

Non-Small Cell Lung Cancer

Test Group

Solid Tumours (Adult)

Specialties

Test code

M4.1

Test name

Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET)

Target genes

EGFR, ALK, BRAF, KRAS p.(G12C), MET exon 14 skipping

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Generally non-squamous NSCLC should be analysed for the full gene panel, although there may be scenarios where clinicians wish to test other subtypes of NSCLC.
Patients with squamous cell NSCLC should be tested for KRAS p.(G12C) and MET exon 14 skipping.

Test code

M4.2

Test name

Multi-target NGS panel - structural variant (ROS1, RET, EML4-ALK, NTRK1, NTRK1, NTRK3, MET)

Target genes

ROS1, RET, EML4-ALK, NTRK1, NTRK2, NTRK3, MET 14 exon skipping

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management.
Generally non-squamous NSCLC should be analysed for the full gene panel, although there may be scenarios where clinicians wish to test other subtypes of NSCLC.
Patients with squamous cell NSCLC should be tested for RET and NTRK gene fusions, and for MET exon 14 skipping.

Test code

M4.3

Test name

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

Target genes

MET

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

M4.4

Test name

EGFR hotspot tumour

Target genes

EGFR

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Usually non-squamous NSCLC although there may be scenarios where clinicians wish to test other subtypes of NSCLC e.g. unusual phenotype, eligible for tyrosine kinase inhibitor therapy, in rare cases where this cannot be delivered by panel testing. NB. Will be subject to close audit

Test code

M4.5

Test name

EGFR hotspot ctDNA

Target genes

EGFR

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

To be used for detection of activating EGFR mutations in ctDNA when biopsy unavailable and patient otherwise eligible for tyrosine kinase inhibitor therapy

Test code

M4.6

Test name

ROS1 rearrangement FISH/RT-PCR

Target genes

ROS1

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M4.7

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

M4.8

Test name

MET copy number FISH

Target genes

MET

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

M4.10

Test name

EML4-ALK FISH/RT-PCR

Target genes

EML4-ALK

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Usually non-squamous NSCLC although there may be scenarios where clinicians wish to test other subtypes of NSCLC e.g. unusual phenotype, eligible for tyrosine kinase inhibitor therapy

Test code

M4.11

Test name

ALK hotspot cDNA

Target genes

ALK

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Usually non-squamous NSCLC although there may be scenarios where clinicians wish to test other subtypes of NSCLC e.g. unusual phenotype, where knowledge of ALK mutations would alter management

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