Request / Find a Test Tool

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.

Thoracic Aortic Aneurysm or Dissection

Clinical Indication ID & Name

R125

Thoracic Aortic Aneurysm or Dissection

Test Group

Cardiology

Test code

R125.1

Test name

N/A

Target genes

Thoracic aortic aneurysm or dissection (700)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

1. Thoracic aortic aneurysm* or dissection with onset before age 50, OR
2. Thoracic aortic aneurysm* or dissection with onset before age 60 with a first degree relative with
thoracic aortic aneurysm or dissection, OR
3. Thoracic aortic aneurysm* or dissection before age 60 with no classical cardiovascular risk factors, OR
4. Thoracic aortic aneurysm* or dissection before age 60 with features suggestive of aortopathy, e.g. arterial tortuosity, OR
5. Clinical features suggestive of Loeys-Dietz syndrome, OR
6. Features of Marfan syndrome giving a systemic Ghent score of ≥7, following assessment by a clinical geneticist or specialist with expertise in aortopathy, OR
7. High clinical suspicion of a condition predisposing to aortic/arterial disease AND diagnostic testing for other conditions such as Ehlers Danlos syndrome (where indicated) has not identified a causative mutation
8. Any deceased individual with a thoracic aortic aneurysm* or dissection detected at autopsy meeting one of the above criteria and who have relatives who will benefit from cascade testing using a genetic diagnosis will be suitable for post-mortem genetic testing. *Thoracic aortic aneurysm defined as:
• In children: z score >2 for body surface area
• In adults: dilatation >38 mm
Testing should be carried out following assessment in a clinical service specialising in management of patients with aortopathy, including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an aortic genetics MDT

Test code

R125.2

Test name

N/A

Target genes

Thoracic aortic aneurysm or dissection (700)

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Thoracic aortic aneurysm* or dissection with onset before age 50, OR
2. Thoracic aortic aneurysm* or dissection with onset before age 60 with a first degree relative with thoracic aortic aneurysm or dissection, OR
3. Thoracic aortic aneurysm* or dissection before age 60 with no classical cardiovascular risk factors, OR
4. Thoracic aortic aneurysm* or dissection before age 60 with features suggestive of aortopathy, e.g. arterial tortuosity, OR
5. Clinical features suggestive of Loeys-Dietz syndrome, OR
6. Features of Marfan syndrome giving a systemic Ghent score of ≥7, following assessment by a clinical geneticist or specialist with expertise in aortopathy, OR
7. High clinical suspicion of a condition predisposing to aortic/arterial disease AND diagnostic testing for other conditions such as Ehlers Danlos syndrome (where indicated) has not identified a causative mutation
8. Any deceased individual with a thoracic aortic aneurysm* or dissection detected at autopsy meeting one of the above criteria and who have relatives who will benefit from cascade testing using a genetic diagnosis will be suitable for post-mortem genetic testing.
*Thoracic aortic aneurysm defined as:
• In children: z score >2 for body surface area
• In adults: dilatation >38 mm
Testing should be carried out following assessment in a clinical service specialising in management of patients with aortopathy, including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an aortic genetics MDT

Commissioning group

Specialised

Overlapping idications

R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations

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

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