Aortopathy Panel

Aortopathy Panel

Aortopathies are a group of complex, related disorders with overlapping phenotypes and genetic heterogeneity. They can be characterized by aneurysms, dilation, and tortuosity of the aorta that occur as a result of disruption to the genes involved in connective tissues and those related to the structure and function of the aortic wall.

Aortopathy can be treated using targeted therapy and/or appropriate interventional surgery, therefore an accurate genetic diagnosis is important. The NewGene Aortopathy panel includes 15 genes implicated in the following disorders:

  • Marfan syndrome
  • Loeys-Dietz syndrome type 1A and type 2A
  • Loeys-Dietz syndrome type 1B and type 2B
  • Loeys-Dietz syndrome type 1C also known as aneurysm-osteoarthritis syndrome
  • Ehlers-Danlos syndrome type IV, autosomal dominant
  • Thoracic aortic aneurysms and aortic dissections/aortic aneurysm, familial thoracic TAAD/AAT
  • Arthrogryposis, distal, type 9/contractural arachnodactyly, congenital
  • Arterial tortuosity syndrome
  • Aortic valve disease-1
  • X-linked cardiac valvular dysplasia.

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NewGene Limited
Bioscience Building
International Centre for Life
Newcastle upon Tyne

Tel: +44 (0)191 241 8769
Fax: +44 (0)191 241 8799

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Mon – Fri 08:30 to 17:00, closed Bank Holidays

An ISO 15189 accredited Medical Laboratory company

NewGene Limited | Company Number: 06735445

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