Clinical Indication ID & Name
Elastin-related phenotypes
Test Group
Cardiology
Specialties
Test code
R140.1
Test name
N/A
Target genes
ELN
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Congenital heart disease of a type associated with Elastin mutations, with an autosomal dominant pattern of inheritance in at least 3 family members, OR
2. Supravalvular aortic stenosis characteristic of Elastin mutations
Commissioning group
Specialised
Overlapping idications
• R28 Congenital malformation and dysmorphism syndromes – microarray only should be used for patients with clinical features strongly suggestive of Williams syndrome • R27 Congenital malformation and dysmorphism syndromes - likely monogenic test should be used for individuals with syndromic forms of cutis laxa R125 Thoracic aortic aneurysm or dissection test should be used for individuals with primarily aortic/large arterial involvement, with some features of cutis laxa
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
n/a
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