Clinical Indication ID & Name
Ichthyosis and erythrokeratoderma
Test Group
Dermatology
Specialties
Test code
R165.1
Test name
N/A
Target genes
Ichthyosis and erythrokeratoderma (555)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with at least TWO features from the list below:
1. Born with collodion membrane
2. Erythroderma
3. Dark plate-like scales or fine white scaling
4. Ectropium/eclabium
5. Hyperkeratosis
Test code
R165.2
Test name
N/A
Target genes
Ichthyosis and erythrokeratoderma (555)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with at least TWO features from the list below:
1. Born with collodion membrane
2. Erythroderma
3. Dark plate-like scales or fine white scaling
4. Ectropium/eclabium
5. Hyperkeratosis
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