Clinical Indication ID & Name
Vascular skin disorders
Test Group
Dermatology
Specialties
Test code
R326.1
Test name
N/A
Target genes
Vascular skin disorders (563)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Vascular skin disorders with a likely germline genetic cause
Test code
R326.2
Test name
N/A
Target genes
Vascular skin disorders (563)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Vascular skin disorders with a likely germline genetic cause
Commissioning group
Specialised
Overlapping idications
• R327 Mosaic skin disorders – deep sequencing test should be used where a mosaic cause is likely, as the technology used for this test will be more sensitive to detect mosaicism • R110 Segmental overgrowth disorders test should be used where relevant
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