Clinical Indication ID & Name
Autoinflammatory Disorders
Test Group
Immunology
Test code
R413.1
Test name
N/A
Target genes
Autoinflammatory disorders (1075)
Test scope
n/a
Test method/ technology
WES or Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Evidence of recurrent or continuous inflammation ( localised or systemic) of otherwise undetermined cause, which fluctuate apparently randomly, either periodically or irregularly AND
2. Infectious and autoimmune testing will have been non-diagnostic.
Attacks typically start during childhood but symptoms can also begin during adolescence or even in later adulthood. Main symptom is fever. Other symptoms include serositis (peritonitis, pleuritis and pericarditis), recurrent stroke-like episodes, myalgia, arthralgia and rash, CNS, gastrointestinal and respiratory symptoms.
Commissioning group
Highly Specialised
Overlapping idications
• R15 Primary immunodeficiency or monogenic Inflammatory Bowel Disease
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
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