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.

Inherited predisposition to GIST

Clinical Indication ID & Name

R363

Inherited predisposition to GIST

Test Group

Inherited cancer

Specialties

Clinical Genetics Endocrinology Gastroenterology

Test code

R363.1

Test name

N/A

Target genes

Inherited predisposition to GIST (523)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Testing of affected individual (proband) where the individual +/- family history meets the following
The proband has GIST (gastrointestinal stromal tumour) :
1. Diagnosed age before age 50, OR
2. With ≥1 relative (first / second / third degree relative) with GIST, phaeochromocytoma / paraganglioma

NOTE: The proband’s cancer and majority of reported cancers in the family should have been confirmed

Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Test code

R363.2

Test name

N/A

Target genes

SDHB; SDHC; SDHD

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Testing of affected individual (proband) where the individual +/- family history meets the following
The proband has GIST (gastrointestinal stromal tumour) :
1. Diagnosed age before age 50, OR
2. With ≥1 relative (first / second / third degree relative) with GIST, phaeochromocytoma / paraganglioma

NOTE: The proband’s cancer and majority of reported cancers in the family should have been confirmed

Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Commissioning group

Specialised

Overlapping idications

• M8 Gastrointestinal stromal tumour should be used for somatic testing • R223 Inherited phaeochromocytoma and paraganglioma excluding NF1

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

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form