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

R223

Inherited phaeochromocytoma and paraganglioma excluding NF1

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology

Test code

R223.1

Test name

N/A

Target genes

Inherited phaeochromocytoma and paraganglioma excluding NF1 (649)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Testing of individual (proband) affected with cancer where the individual +/- family history meets one of the following criteria. The proband has:
1. Phaeochromocytoma <60 years, OR 2. Any paraganglioma at any age, OR 3. Phaeochromocytoma / paraganglioma with loss of staining for SDH proteins on IHC, OR 4. Bilateral phaeochromocytoma (any age), OR 5. Phaeochromocytoma and renal cell carcinoma (any age), OR 6. Phaeochromocytoma / paraganglioma (any age) AND ≥1 relative (first / second / third degree relative) with phaeochromocytoma / paraganglioma / renal cell cancer (any age) / gastrointestinal stromal tumour

Test code

R223.2

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 individual (proband) affected with cancer where the individual +/- family history meets one of the following criteria. The proband has:
1. Phaeochromocytoma <60 years, OR 2. Any paraganglioma at any age, OR 3. Phaeochromocytoma / paraganglioma with loss of staining for SDH proteins on IHC, OR 4. Bilateral phaeochromocytoma (any age), OR 5. Phaeochromocytoma and renal cell carcinoma (any age), OR 6. Phaeochromocytoma / paraganglioma (any age) AND ≥1 relative (first / second / third degree relative) with phaeochromocytoma / paraganglioma / renal cell cancer (any age) / gastrointestinal stromal tumour

Commissioning group

Specialised

Overlapping idications

• R363 Inherited predisposition to GIST should be used where GIST is a prominent cancer type in the family • M13 Phaeochromocytoma should be used for somatic testing

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