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Private: 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.

Testing of unaffected individuals for inherited cancer predisposition syndromes

Clinical Indication ID & Name

R404

Testing of unaffected individuals for inherited cancer predisposition syndromes

Test Group

Inherited cancer

Specialties

Clinical Genetics

Test code

R422.1

Test name

N/A

Target genes

As dictated by clinical indication

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Germline testing of unaffected individuals for specific inherited cancer predisposition syndromes where the following criteria are met:
1. There are no living affected relatives available for testing, AND
2. Any applicable somatic testing on deceased relatives tumour samples has been performed first, AND
3. The individual to be tested is deemed to have ≥10% chance of having a variant (deceased first degree relative with ≥20% chance), AND
4. This is agreed by specialist cancer genetics MDT

For testing for hereditary breast and ovarian cancer and inherited MMR deficiency (Lynch syndrome),
unaffected individuals must meet criteria as specified under relevant indications R208/R215

NOTE: All cancers must be confirmed

Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Test code

R422.2

Test name

N/A

Target genes

As per appropriate inherited cancer indication

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Germline testing of unaffected individuals for specific inherited cancer predisposition syndromes where the following criteria are met:
1. There are no living affected relatives available for testing, AND
2. Any applicable somatic testing on deceased relatives tumour samples has been performed first, AND
3. The individual to be tested is deemed to have ≥10% chance of having a variant (deceased first degree relative with ≥20% chance), AND
4. This is agreed by specialist cancer genetics MDT

For testing for hereditary breast and ovarian cancer and inherited MMR deficiency (Lynch syndrome),
unaffected individuals must meet criteria as specified under relevant indications R208/R215

NOTE: All cancers must be confirmed

Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Test code

R422.3

Test name

N/A

Target genes

Relevant inherited cancer panel

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Germline testing of unaffected individuals for specific inherited cancer predisposition syndromes where the following criteria are met:
1. There are no living affected relatives available for testing, AND
2. Any applicable somatic testing on deceased relatives tumour samples has been performed first, AND
3. The individual to be tested is deemed to have ≥10% chance of having a variant (deceased first degree relative with ≥20% chance), AND
4. This is agreed by specialist cancer genetics MDT

For testing for hereditary breast and ovarian cancer and inherited MMR deficiency (Lynch syndrome),
unaffected individuals must meet criteria as specified under relevant indications R208/R215

NOTE: All cancers must be confirmed

Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Commissioning group

Core/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.

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.