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

M1

Colorectal Carcinoma

Test Group

Solid Tumours (Adult)

Specialties

Test code

M1.1

Test name

Multi-target NGS panel - small variant (KRAS, NRAS, BRAF, MLH1, MSH2, MSH6, PMS2, POLD1, POLE)

Target genes

KRAS, NRAS, BRAF, MLH1, MSH2, MSH6, PMS2, POLD1, POLE

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Known colorectal carcinoma, eligible for anti-EGFR therapy and / or BRAF status required as per NICE Guidelines algorithm for molecular testing for Lynch syndrome and or no IHC result for Lynch testing. Please refer to Rare & Inherited disease directory R210 Lynch syndrome for full eligibility criteria.

Test code

M1.2

Test name

KRAS hotspot

Target genes

KRAS

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Known colorectal carcinoma, eligible for anti-EGFR therapy, in rare cases where this cannot be delivered by panel testing NB will be subject to close audit

Test code

M1.3

Test name

NRAS hotspot

Target genes

NRAS

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Known colorectal carcinoma, eligible for anti-EGFR therapy, in rare cases where this cannot be delivered by panel testing NB will be subject to close audit

Test code

M1.4

Test name

MSI Testing

Target genes

N/A

Test scope

Microsatellite instability analysis

Test method/ technology

Microsatellite instability

Optimal Family Structure

n/a

Eligibility Criteria

Known colorectal carcinoma, when MMR IHC not possible / not performed, as per NICE Guidelines algorithm for molecular testing for Lynch syndrome. Please refer to Rare & Inherited disease directory R210 Lynch syndrome for full eligibility criteria.

Test code

M1.5

Test name

MLH1 promoter hypermethylation

Target genes

MLH1

Test scope

Methylation analysis

Test method/ technology

Targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Known colorectal carcinoma, as per NICE Guidelines algorithm for molecular testing for Lynch syndrome. Please refer to Rare & Inherited disease directory R210 Lynch syndrome for full eligibility criteria.

Test code

M1.6

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

M1.7

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