Clinical Indication ID & Name
Epidermolysis bullosa and congenital skin fragility
Test Group
Dermatology
Specialties
Test code
R164.1
Test name
N/A
Target genes
Epidermolysis bullosa and congenital skin fragility (554)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clinical diagnosis of epidermolysis bullosa or other forms of unexplained skin fragility including peeling skin syndrome
Test code
R164.2
Test name
N/A
Target genes
Epidermolysis bullosa and congenital skin fragility (554)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clinical diagnosis of epidermolysis bullosa or other forms of unexplained skin fragility including peeling skin syndrome
Commissioning group
Highly 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