Clinical Indication ID & Name
Subcutaneous panniculitis T-cell lymphoma (SPTCL)
Test Group
Dermatology
Specialties
Test code
R424.1
Test name
N/A
Target genes
HAVCR2
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. New diagnosis of SPTCL (to guide therapeutic management)
2. Suspected SPTCL (to aid diagnosis)
Detection of the germline HAVCR2 variant is associated with the life-threatening complication of haemophagocytic lymphohistiocytosis (HLH) in a subset of SPTCL patients and also indicates which patients may benefit from immunosuppressive therapy (eg Cyclosporin) as opposed to chemotherapy
Test code
R424.2
Test name
N/A
Target genes
Test scope
n/a
Test method/ technology
n/a
Optimal Family Structure
n/a
Eligibility Criteria
1. New diagnosis of SPTCL (to guide therapeutic management)
2. Suspected SPTCL (to aid diagnosis)
Detection of the germline HAVCR2 variant is associated with the life-threatening complication of haemophagocytic lymphohistiocytosis (HLH) in a subset of SPTCL patients and also indicates which patients may benefit from immunosuppressive therapy (eg Cyclosporin) as opposed to chemotherapy
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