Clinical Indication ID & Name
Pigmentary skin disorders
Test Group
Dermatology
Specialties
Test code
R236.1
Test name
N/A
Target genes
Pigmentary skin disorders (559)
Test scope
n/a
Test method/ technology
WES or Large Panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Multiple café-au-lait macules where neurofibromatosis type 1 (NF1) has been excluded either clinically or on genetic testing, OR
2. Poikiloderma with a likely genetic cause, OR
3. Other forms of reticulate, patchy or speckled hypo- or hyperpigmentation with a likely genetic cause
Test code
R236.2
Test name
N/A
Target genes
SPRED1
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Multiple café-au-lait macules where neurofibromatosis type 1 (NF1) has been excluded either clinically or on genetic testing, OR
2. Poikiloderma with a likely genetic cause, OR
3. Other forms of reticulate, patchy or speckled hypo- or hyperpigmentation with a likely genetic cause
Commissioning group
Specialised
Overlapping idications
• R222 Neurofibromatosis type 1 test should be used where features are typical of this condition • R343 Chromosomal mosaicism – microarray test should be used where this is the likely diagnosis • R327 Mosaic skin disorders – deep sequencing test should be used where the likely cause is a mosaic genetic change, as the technology applied to the mosaic disorders will be more sensitive to these than the panel test designed to detect germline disorders
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