Clinical Indication ID & Name
Cutaneous photosensitivity with a likely genetic cause
Test Group
Dermatology
Specialties
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
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