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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.

Von Hippel Lindau syndrome

Clinical Indication ID & Name

R225

Von Hippel Lindau syndrome

Test Group

Inherited cancer

Specialties

Clinical Genetics Endocrinology Nephrology Neurology Ophthalmology Urology Neurosurgery

Test code

R225.1

Test name

N/A

Target genes

VHL

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Testing of individual (proband) affected with VHL-related tumours where the individual/family history meets
one of the following criteria:
a. Retinal angioma, spinal or endolymphatic sac tumour (<40 years), OR b. Cerebellar OR spinal haemangioblastoma (<60 years), OR c. ≥2 VHL-related tumours (any age), OR d. ≥1 VHL-related tumour and a first degree relative with ≥1 VHL-related tumour (where one of the tumours is retinal angioma / hemangioblastoma) Deceased affected individual (proband) where all the following are met; (i) the individual +/- family history meets one of the above criteria, AND (ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available, AND (iii) no living affected individual is available for genetic testing, AND (iv) after discussion at specialist cancer genetics MDT VHL-related tumours comprise: Retinal angioma, Spinal or cerebellar hemangioblastoma, adrenal or extra- adrenal pheochromocytoma, Renal cell carcinoma, multiple renal and/or pancreatic cysts, endolymphatic sac tumors, papillary cystadenomas of the epididymis or broad ligament, neuroendocrine tumour of the pancreas 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 Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.

Test code

R225.2

Test name

N/A

Target genes

VHL

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Testing of individual (proband) affected with VHL-related tumours where the individual/family history meets
one of the following criteria:
a. Retinal angioma, spinal or endolymphatic sac tumour (<40 years), OR b. Cerebellar OR spinal haemangioblastoma (<60 years), OR c. ≥2 VHL-related tumours (any age), OR d. ≥1 VHL-related tumour and a first degree relative with ≥1 VHL-related tumour (where one of the tumours is retinal angioma / hemangioblastoma) Deceased affected individual (proband) where all the following are met; (i) the individual +/- family history meets one of the above criteria, AND (ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available, AND (iii) no living affected individual is available for genetic testing, AND (iv) after discussion at specialist cancer genetics MDT VHL-related tumours comprise: Retinal angioma, Spinal or cerebellar hemangioblastoma, adrenal or extra- adrenal pheochromocytoma, Renal cell carcinoma, multiple renal and/or pancreatic cysts, endolymphatic sac tumors, papillary cystadenomas of the epididymis or broad ligament, neuroendocrine tumour of the pancreas 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 Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.

Commissioning group

Specialised

Overlapping idications

n/a

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.