Aortopathies are a group of conditions linked by disease of the aorta; aortic aneurysm, dilatation and dissection are cardinal features. Other features include abnormality of the aortic valves (bicuspid aortic valve). Aortopathies can be associated with syndromic connective tissue disorders such as Marfan syndrome, Loeys-Dietz syndrome and Ehlers-Danlos syndrome.

Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

Next generation sequencing of 19 genes. For additional information please click on the link Download additional information >

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

80 days

Disease / group

Next generation sequencing panel of 19 genes


Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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