Clinical Indication ID & Name
Vascular skin disorders
Test Group
Dermatology
Specialties
Test code
R326.1
Test name
N/A
Target genes
Vascular skin disorders (563)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Vascular skin disorders with a likely germline genetic cause
Test code
R326.2
Test name
N/A
Target genes
Vascular skin disorders (563)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Vascular skin disorders with a likely germline genetic cause
Commissioning group
Specialised
Overlapping idications
• R327 Mosaic skin disorders – deep sequencing test should be used where a mosaic cause is likely, as the technology used for this test will be more sensitive to detect mosaicism • R110 Segmental overgrowth disorders test should be used where relevant
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