Clinical Indication ID & Name
Ectodermal dysplasia
Test Group
Dermatology
Specialties
Test code
R163.1
Test name
N/A
Target genes
Ectodermal dysplasia (553)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clinical diagnosis of ectodermal dysplasia who have one or more of:
1. Abnormalities of hair (hypotrichosis, sparse hair, sparse/missing eyebrows)
2. Abnormalities of teeth (hypodontia, conical incisors)
3. Abnormalities of skin (hypohidrosis, episodes of hyperthermia)
Test code
R163.2
Test name
N/A
Target genes
Ectodermal dysplasia (553)
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 ectodermal dysplasia who have one or more of:
1. Abnormalities of hair (hypotrichosis, sparse hair, sparse/missing eyebrows)
2. Abnormalities of teeth (hypodontia, conical incisors)
3. Abnormalities of skin (hypohidrosis, episodes of hyperthermia)
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