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
Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP
Contact with queries
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