Clinical Indication ID & Name
Lymphoproliferative syndrome with absent SAP expression
Test Group
Immunology
Specialties
Test code
R17.1
Test name
N/A
Target genes
SH2D1A
Test scope
n/a
Test method/ technology
Single gene sequencing <10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Haemophagocytic lymphohistiocytosis (HLH) or other lymphoproliferative disorders affecting males consistent with SAP-related disease and low or absent SAP expression
Typical features may include EBV infection, gammaglobulinaemia or bone marrow aplasia
Test code
R17.2
Test name
N/A
Target genes
SH2D1A
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Haemophagocytic lymphohistiocytosis (HLH) or other lymphoproliferative disorders affecting males consistent with SAP-related disease and low or absent SAP expression
Typical features may include EBV infection, gammaglobulinaemia or bone marrow aplasia
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
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