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Aortic Disorders, Comprehensive Genetic Testing

53 Genes
Blood, Saliva
3-4 Weeks
780€

The Comprehensive Genetic Test for Aortic Disorders (Aorta Panel) utilizes next-generation sequencing (NGS) to examine multiple genes associated with aortic aneurysms and inherited aortic syndromes. It is a targeted gene panel specifically designed to support accurate diagnosis, risk assessment, and prevention.

More Information

The Aorta Panel is a comprehensive genetic screening test that analyzes 53 genes known to be associated with aortic diseases, including both coding and non-coding variants. This advanced panel is designed to detect pathogenic mutations that may predispose individuals to a spectrum of thoracic aortic disorders. It is particularly relevant for individuals presenting with isolated or syndromic aortic pathology, especially those exhibiting ascending aortic dilatation, aneurysms, or dissections. By examining key genes involved in the structural integrity and function of the aortic wall, the test contributes to the early detection of hereditary aortic conditions. It provides insight into the underlying molecular etiology of these potentially life-threatening disorders.

Aortic diseases primarily manifest as abnormal enlargement or weakening of the aortic wall. Aortic dilatation is typically diagnosed when the diameter of the aorta exceeds 110% of the expected reference values, which are established based on age, sex, and body surface area. If the diameter increases further to exceed 150% of the reference range, the condition is classified as an aortic aneurysm. This pathological expansion is often attributed to a progressive loss of structural proteins such as elastin and a reduction in smooth muscle cells within the aortic media, leading to a phenomenon known as cystic medial degeneration. While this degenerative process may occur gradually as part of the aging process, it advances at a faster rate in individuals with a genetic predisposition to aortic disease.

A significant portion of aortic aneurysms, particularly those involving the ascending thoracic aorta, are non-syndromic and appear sporadically. However, up to 20% of cases are syndromic in nature, associated with inherited connective tissue disorders such as Marfan syndrome, Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, and various types of Ehlers-Danlos syndrome. These syndromes are characterized by systemic involvement of connective tissue, often affecting the cardiovascular, skeletal, and ocular systems, and carry a heightened risk of severe aortic complications.

Genetic mutations that affect the aortic wall compromise its mechanical stability and resilience, thereby increasing susceptibility to rupture or dissection. Aortic dissection, in particular, poses an acute risk of sudden cardiac death if not identified and managed promptly. Therefore, the Aorta Panel serves as a critical tool in risk stratification and monitoring of individuals at genetic risk for aortic disease. By identifying carriers of pathogenic variants, it facilitates appropriate follow-up and clinical decision-making, thereby reducing the likelihood of catastrophic cardiovascular events.

The test is performed in a clinical laboratory accredited to ISO 15189 and certified by CLIA and CAP, ensuring the validity, accuracy and international recognition of the results.

Additional information
Sample Blood, Saliva
Results Time3-4 Weeks
Procedure completion test
Step 1

Book an appointment and buy the test online

Select from the most complete range test of Prevention, Andrology and Diagnostics, book an appointment in real time and purchase them online.

Step 2

Sampling

Visit the certified laboratory of Diagnostiki Athinon on the date and time you have chosen, to perform the sampling.

Step 3

Receiving the test results

Download your test results easily and securely anytime you want by logging in to your personal account.

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