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
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