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

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@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

Rare Disease Order Form Record of Discussion Form

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