Clinical Indication ID & Name
Pseudoxanthoma elasticum
Test Group
Ophthalmology
Specialties
Test code
R420.1
Test name
N/A
Target genes
ABCC6, ENPP1
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Individuals who have characteristic features of Pseudoxanthoma elasticum:
• Papules or plaques on the skin of the neck and/or flexural creases (antecubital fossae, axillae, groin, or popliteal fossae) and/or calcified dystrophic elastic fibres on biopsied skin using a von Kossa or similar stain) AND/OR
• Retinal finding (angioid streaks, peau d’orange, or choroidal vascularization).
Test code
R420.2
Test name
N/A
Target genes
ABCC6, ENPP1
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Individuals who have characteristic features of Pseudoxanthoma elasticum:
• Papules or plaques on the skin of the neck and/or flexural creases (antecubital fossae, axillae, groin, or popliteal fossae) and/or calcified dystrophic elastic fibres on biopsied skin using a von Kossa or similar stain) AND/OR
• Retinal finding (angioid streaks, peau d’orange, or choroidal vascularization).
Commissioning group
Specialised
Overlapping idications
• R384 Generalised arterial calcification in infancy
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.
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.