Clinical Indication ID & Name
Thrombophilia with a likely monogenic cause
Test Group
Haematology
Specialties
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
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