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.

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Clinical Indication ID & Name

R227

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Test Group

Dermatology

Specialties

Clinical Genetics Dermatology

Test code

R227.1

Test name

N/A

Target genes

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (77)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

1. Confident clinical diagnosis of xeroderma pigmentosum plus specific XP-related features in the eye, neurological system or a related cancer, OR
2. Confident clinical diagnosis of trichothiodystrophy, OR
3. Confident clinical diagnosis of Cockayne syndrome

Test code

R227.2

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

DNA repair defect testing

Optimal Family Structure

n/a

Eligibility Criteria

1. Confident clinical diagnosis of xeroderma pigmentosum plus specific XP-related features in the eye, neurological system or a related cancer, OR
2. Confident clinical diagnosis of trichothiodystrophy, OR
3. Confident clinical diagnosis of Cockayne syndrome

Test code

R227.3

Test name

N/A

Target genes

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (77)

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Confident clinical diagnosis of xeroderma pigmentosum plus specific XP-related features in the eye, neurological system or a related cancer, OR
2. Confident clinical diagnosis of trichothiodystrophy, OR
3. Confident clinical diagnosis of Cockayne syndrome

Commissioning group

Highly Specialised

Overlapping idications

R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or less recognisable presentations

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

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form