Clinical Indication ID & Name
Thoracic Aortic Aneurysm or Dissection
Test Group
Cardiology
Specialties
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
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