MOLECULAR STUDY - FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION (ACTA2, MYH11) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4099

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	45 days
Information:
Familial thoracic aortic aneurysm and dissection (familial TAAD) is a disorder that involves problems with upper part of the aorta. In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. People with familial TAAD may develop aneurysms or aortic dissections at any time during their life. Aortic dissections usually cause severe, sudden chest pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias), or paralysis. Mutations in the ACTA2 gene have been identified in 14% of people with this disorder. This condition is inherited in an autosomal dominant pattern. People with mutations in the gene inherit an increased risk of thoracic aortic aneurysms and dissection, not the conditions themselves.

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