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.

Bleeding and platelet disorders

Clinical Indication ID & Name

R90

Bleeding and platelet disorders

Test Group

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

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

n/a

Education resources

n/a

Service updates

n/a

Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form