Aortic aneurysm, hereditary thoracic panel

Aortic aneurysm,  hereditary thoracic panel
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Hereditary Thoracic Aortic Aneurym panel is a molecular diagnostic test that screens for relevant mutations in TGFBR1, TGFBR2, FBN1, and COL3A1 genes.

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Thoracic Aortic Aneurysm Disease (TAAD) is a genetically heterogeneous disorder, which primarily involves problems with the aorta, specifically the thoracic aorta. The major manifestations of TAAD include aortic dilatation, aortic aneurysms, aortic dissection, and aneurysms of the other arteries (i.e. abdominal, cerebral). In Aortic aneurysm hereditary thoracic panel, TGFBR1, TGFBR2, FBN1, COL3A1 genes will be analysed by PCR and next-generation sequencing.

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