Clinical Indication ID & Name
Bleeding and platelet disorders
Test Group
Haematology
Specialties
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
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