Clinical Indication ID & Name
Bleeding and platelet disorders
Test Group
Haematology
Specialties
Test code
R90.1
Test name
Bleeding and platelet disorders
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
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
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.