Clinical Indication ID & Name
R117
Factor VIII deficiency
Test Group
Haematology
Specialties
Test code
R117.1
Test name
N/A
Target genes
F8
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features characteristic of factor VIII deficiency
Test code
R117.2
Test name
N/A
Target genes
F8
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features characteristic of factor VIII deficiency
Test code
R117.3
Test name
N/A
Target genes
F8
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features characteristic of factor VIII deficiency
Commissioning group
Specialised
Overlapping idications
• R90 Bleeding and platelet disorders test should be used where features are not typical
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
Rare Disese WGS Clinician pack
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