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

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

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

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/

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