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
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
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