Clinical Indication ID & Name
Multiple monogenic benign skin tumours
Test Group
Dermatology
Specialties
Test code
R230.1
Test name
N/A
Target genes
Multiple monogenic benign skin tumours (558)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Three or more benign skin tumours suggesting a diagnosis of any of the following conditions, with at least two histologically confirmed:
1. Familial cylindromatosis, OR
2. Brooke-Spiegler syndrome, OR
3. Multiple Familial Trichoepithelioma, OR
4. Muir-Torre syndrome, OR
5. Buschke-Ollendorff syndrome*, OR
6. Birt-Hogg-Dubé syndrome
*One skin biopsy may be sufficient to make a confident diagnosis
Test code
R230.2
Test name
N/A
Target genes
FLCN
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Three or more benign skin tumours suggesting a diagnosis of any of the following conditions, with at least two histologically confirmed:
1. Familial cylindromatosis, OR
2. Brooke-Spiegler syndrome, OR
3. Multiple Familial Trichoepithelioma, OR
4. Muir-Torre syndrome, OR
5. Buschke-Ollendorff syndrome*, OR
6. Birt-Hogg-Dubé syndrome
*One skin biopsy may be sufficient to make a confident diagnosis
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
Supporting documents
Rare Disese WGS Clinician pack
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