Clinical Indication ID & Name
Mosaic skin disorders - deep sequencing
Test Group
Dermatology
Specialties
Test code
R327.1
Test name
N/A
Target genes
Mosaic skin disorders - deep sequencing (564)
Test scope
n/a
Test method/ technology
Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
Dermatological abnormality likely to have a mosaic single gene cause
Test code
R327.2
Test name
N/A
Target genes
Mosaic skin disorders - deep sequencing (564)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Dermatological abnormality likely to have a mosaic single gene cause
Commissioning group
Specialised
Overlapping idications
• R110 Segmental overgrowth disorders test should be used where relevant • R343 Chromosomal mosaicism – microarray test should be used where a microarray is required
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