Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R420

Pseudoxanthoma elasticum

Test Group

Ophthalmology

Specialties

Clinical Genetics Ophthalmology

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

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