Clinical Indication ID & Name
Combined factor V and VIII deficiency
Test Group
Haematology
Specialties
Test code
R124.1
Test name
N/A
Target genes
Combined factor V and VIII deficiency (517)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features characteristic of combined factor V and VIII deficiency
Test code
R124.2
Test name
N/A
Target genes
Combined factor V and VIII deficiency (517)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features characteristic of combined factor V and 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
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
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