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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 OR metastatic phaeochromocytoma 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 NOTE: The proband's cancer and majority of reported cancers in the family should have been confirmed NOTE: Testing under this clinical indication does not include NF1

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 OR metastatic phaeochromocytoma 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 NOTE: The proband's cancer and majority of reported cancers in the family should have been confirmed NOTE: Testing under this clinical indication does not include NF1

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

Please refer to the test request form.

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

Form not available, please contact us to enquire.

Consent record

See consent guidance in test request form

Sample requirements

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.