The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Clinical Indication ID & Name

R140

Elastin-related phenotypes

Test Group

Cardiology

Specialties

Cardiology Clinical Genetics

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool