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

M220

Cholangiocarcinoma

Test Group

Solid Tumours (Adult)

Specialties

Test code

M220.1

Test name

Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3, FGFR2)

Target genes

NTRK1, NTRK2, NTRK3,FGFR2

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. Patient’s clinical status means they are eligible for a protein kinase inhibitor therapy in the event an FGFR2 fusion is detected.

Test code

M220.3

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

Test code

M220.5

Test name

MSI Testing

Target genes

N/A

Test scope

Microsatellite instability analysis

Test method/ technology

Microsatellite instability analysis

Optimal Family Structure

n/a

Eligibility Criteria

Known cholangiocarcinoma carcinoma, when MMR IHC not possible / not performed, as per NICE Guidelines for molecular testing to inform therapy choice. Delivery via pathology in some regions.

Test code

M220.6

Test name

Multi-target NGS panel -small variant (IDH1)

Target genes

IDH1

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or 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