Clinical Indication ID & Name
Rare genetic inflammatory skin disorders
Test Group
Dermatology
Specialties
Test code
R332.1
Test name
N/A
Target genes
Rare genetic inflammatory skin disorders (565)
Test scope
n/a
Test method/ technology
WES or Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical diagnosis of a rare inflammatory skin disorder of probably genetic origin, including autoinflammatory disease (e.g. early onset urticaria, recurrent febrile erythemas), infantile pustular psoriasis, likely genetic forms of pityriasis rubra pilaris
Test code
R332.2
Test name
N/A
Target genes
Rare genetic inflammatory skin disorders (565)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical diagnosis of a rare inflammatory skin disorder of probably genetic origin, including autoinflammatory disease (e.g. early onset urticaria, recurrent febrile erythemas), infantile pustular psoriasis, likely genetic forms of pityriasis rubra pilaris
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