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.

Rare genetic inflammatory skin disorders

Clinical Indication ID & Name

R332

Rare genetic inflammatory skin disorders

Test Group

Dermatology

Test code

R332.1

Test name

N/A

Target genes

Rare genetic inflammatory skin disorders (565)

Test scope

n/a

Test method/ technology

WES or Medium panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical diagnosis of a rare inflammatory skin disorder of probably genetic origin, including autoinflammatory disease (e.g. early onset urticaria, recurrent febrile erythemas), infantile pustular psoriasis, likely genetic forms of pityriasis rubra pilaris

Test code

R332.2

Test name

N/A

Target genes

Rare genetic inflammatory skin disorders (565)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Clinical diagnosis of a rare inflammatory skin disorder of probably genetic origin, including autoinflammatory disease (e.g. early onset urticaria, recurrent febrile erythemas), infantile pustular psoriasis, likely genetic forms of pityriasis rubra pilaris

Commissioning group

Specialised

Overlapping idications

n/a

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