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

1. 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 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) 2. Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing 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

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

1. 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 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) 2. Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing 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

Commissioning group

Specialised

Overlapping idications

n/a

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

Rare Disese WGS Clinician pack

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