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

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

Witihin working hours:
South East GLH
Genetics Specimen Reception
5th floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Outside of working hours:
Central Specimen Reception
4th floor Southwark 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

Dermatology 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