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

R237

Cutaneous photosensitivity with a likely genetic cause

Test Group

Dermatology

Specialties

Clinical Genetics Dermatology

Test code

R237.1

Test name

N/A

Target genes

Cutaneous photosensitivity with a likely genetic cause (560)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical diagnosis of a genetic condition causing cutaneous photosensitivity, for example RothmundThompson syndrome, hydroa vacciniforme

Test code

R237.2

Test name

N/A

Target genes

Cutaneous photosensitivity with a likely genetic cause (560)

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 genetic condition causing cutaneous photosensitivity, for example RothmundThompson syndrome, hydroa vacciniforme

Commissioning group

Specialised

Overlapping idications

• Porphyria (cutaneous presentation, R168 or R170) should be tested using the appropriate porphyria test • R227 Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome test should be used where there is a high likelihood that this is the diagnosis

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