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
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