Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R97

Thrombophilia with a likely monogenic cause

Test Group

Haematology

Specialties

Clinical Genetics Haematology

Test code

R97.1

Test name

N/A

Target genes

Thrombophilia (516)

Test scope

n/a

Test method/ technology

WES or Small Panel

Optimal Family Structure

n/a

Eligibility Criteria

• Clinical features indicative of a likely monogenic venous thrombophilia as assessed by a consultant haematologist
• Testing should typically be targeted at those with venous thromboembolic disease at less than 40 years of age, is spontaneous or associated with weak environmental risk factors and which is present in at least one first degree relative
• Testing should only be used where it will impact on clinical management

Test code

R97.2

Test name

N/A

Target genes

PROS1;PROC;SERPINC1

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

• Clinical features indicative of a likely monogenic venous thrombophilia as assessed by a consultant haematologist
• Testing should typically be targeted at those with venous thromboembolic disease at less than 40 years of age, is spontaneous or associated with weak environmental risk factors and which is present in at least one first degree relative
• Testing should only be used where it will impact on clinical management

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

Molecular Haemostasis & Thrombosis
4th Floor North Wing
St. Thomas’ Hospital
London SE1 7EH

Contact with queries

viapath.mol.haem@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Haemostasis and Thrombosis Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

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