Clinical Indication ID & Name
Hereditary angioedema types I and II
Test Group
Immunology
Specialties
Test code
R341.1
Test name
N/A
Target genes
SERPING1
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Recurrent non-urticarial angioedema, usually of gradual onset involving the peripheries, gut or larynx, usually of gradual onset and lasting 1-5 days and presenting without a family history, AND
2. Abnormal serum C1INH concentration or function
Test code
R341.2
Test name
N/A
Target genes
SERPING1
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Recurrent non-urticarial angioedema, usually of gradual onset involving the peripheries, gut or larynx, usually of gradual onset and lasting 1-5 days and presenting without a family history, AND
2. Abnormal serum C1INH concentration or function
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