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 phaeochromocytoma and paraganglioma excluding NF1

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

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

n/a

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