Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Cholangiocarcinoma

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form