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
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
Form not available, please contact us to enquire.
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.