Clinical Indication ID & Name
Haemophagocytic syndrome with absent XIAP expression
Test Group
Immunology
Specialties
Test code
R18.1
Test name
N/A
Target genes
XIAP
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Haemophagocytic lymphohistiocytosis (HLH) affecting males consistent with XIAP-related disease and low or absent XIAP expression
Typical features include inflammatory bowel disease or colitis
Test code
R18.2
Test name
N/A
Target genes
XIAP
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Haemophagocytic lymphohistiocytosis (HLH) affecting males consistent with XIAP-related disease and low or absent XIAP expression
Typical features include inflammatory bowel disease or colitis
Commissioning group
Specialised
Overlapping idications
• R15 Primary immunodeficiency panel test should be used where clinical and laboratory features are not typical and a broader range of genes are potentially causative
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