Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Pseudoxanthoma elasticum

Clinical Indication ID & Name

R420

Pseudoxanthoma elasticum

Test Group

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

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