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

R90

Bleeding and platelet disorders

Test Group

Haematology

Specialties

Clinical Genetics Haematology

Test code

R90.1

Test name

N/A

Target genes

Bleeding and platelet disorders (545)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with a bleeding or platelet disorder of likely monogenic aetiology where there are multiple possible causative genes

Test code

R90.2

Test name

N/A

Target genes

F5;F11;MYH9;ENG;ACVRL1;F7;F8;F9;F10;VWF

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with a bleeding or platelet disorder of likely monogenic aetiology where there are multiple possible causative genes

Commissioning group

Specialised

Overlapping idications

Testing using one of the following targeted indications should be used where appropriate: • R112 Factor II deficiency • R115 Factor V deficiency • R116 Factor VII deficiency • R117 Factor VIII deficiency • R118 Factor IX deficiency • R119 Factor X deficiency • R120 Factor XI deficiency • R121 von Willebrand disease • R122 Factor XIII deficiency • R123 Combined vitamin K-dependent clotting factor deficiency • R124 Combined factor V and VIII deficiency

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