Aorta Panel
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چکیده
The Blueprint Genetics Aorta Panel is an efficient genetic diagnostic tool targeted for aortic dilatation and aortic aneurysm diseases. The Aorta Panel covers 18 genes associated with non-syndromic and syndromic aortic disease. Most of the aortic aneurysms associate to non-syndromic dilatation. However, at least 20% of aortic aneurysms are in context of syndromic diseases such as Marfan syndrome (MfS), LoeysDietz syndrome (LDS), Shprintzen-Goldberg syndrome (SGS) and vascular and other Ehlers-Danlos syndromes (EDS), which are also covered by the Aorta Panel. In clear syndromic cases we recommend to use the Blueprint Genetics Marfan Panel targeting only the syndromic forms of the disease.
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